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5
beyond RISK
THE OHIO STATE UNIVERSITY COMPREHENSIVE CANCER CENTER –
ARTHUR G. JAMES CANCER HOSPITAL AND RICHARD J. SOLOVE RESEARCH INSTITUTE
Waiting for Cancer to Come continued from page 4 . . .
themselves after testing. Again, this is why it’s important
to see a genetic counselor.
•Genetic testing can often lead to isolation and stigmatization
within a family and therefore it’s not always beneficial. This
has been the case within my own family.
•Women with HBOC who have a desire to have prophylactic
surgery tend to marry earlier and have children sooner.
•Most women get genetically tested simply to “beat” cancer.
Well, I know I did, in hopes of beating ovarian cancer.
•Countless circumstances determine whether or not a woman
will undergo testing: age, children, employment, ethnicity,
and education level; most women do it for their families,
specifically their children—they want to be around for their
children. At the same time, they hold tremendous guilt for
unknowingly passing this onto their children.
•Various cultural influences play a role in a decision to get
tested; for example, some Orthodox Jewish fathers prefer
their daughters do not undergo genetic testing prior to
marriage; Jewish law mandates that women should only
“seek knowledge” if she is capable of dealing with it.
•When one woman within a family tests positive for BRCA,
many other female members of their family are more likely
to be tested.
•Who gets tested? 90 percent were Caucasian, 80 percent
identified themselves as middle-class, and none of them
deemed themselves lower class; the socio-economical
disparities in genetic testing amongst women is appalling.
•Women who are not white, well-educated, and well-off
are less likely to be tested. Poor women are less likely to
receive genetic counseling, good medical treatment, and
visit oncologists.
•Some women find their diagnosis to be the impetus for them
to make serious changes in their lives; for example, one
woman decided to get that much-needed divorce which she
had been putting off for so long. Some feel if their time is
limited then they should make the most out of it and be happy
as possible.
•If someone has not seen someone die of the cancer within
their family which they’re possibly at risk for, it can definitely
negatively affect their decision making process in regards to
genetic testing and prophylactic surgeries.
I could go on and on with the salient points of Waiting for
Cancer to Come, but I won’t because I want you to read it.
Professor Hesse-Biber does a remarkable job of discussing
the various issues which influence how, why, when, and who
gets genetically tested and takes prophylactic measures to
prevent malignancy to their organs. The one thing I wish she
had gone into greater detail about was forced menopause at
an early age and the hells which may follow it. She does not
emphasize this enough. But my beloved Mick Jagger reminds
me of the fact, “You Can’t Always Get What You Want!” Kudos
to her for mentioning BRCA in men and how the removal of
body parts (in this case, of breasts) can make a woman feel
defeminized; something which I frequently discuss as a result
of my oophorectomy. The bottom line: most women are illprepared for these prophylactic surgeries, the conversation
regarding genetic testing, and that genetic testing for mutations
need to be more inclusive of various groups — the voices of the
marginalized need to be heard, too. I highly recommend this
book to doctors, genetic counselors, advocates, and anyone
else interested in truly understanding the complexity behind
the variables of genetic testing. Though this solely focuses on
BRCA, many of these observations are relevant and mirror many
issues regarding other deleterious gene mutations.
The book may be found at: http://www.amazon.com/WaitingCancer-Come-Experiences-Decision/dp/0472052195. It is a
great book to add to your hereditary cancer collection and use
as a reference.
VOL 7
The Ohio State University
Division of Human Genetics
2001 Polaris Parkway
Columbus, Ohio 43240
Waiting for Cancer to Come
by Sharlene Hesse-Biber
Reviewed and excerpt reprinted with permission from:
Georgia Hurst on her blog ihavelynchsyndrome.com
Save the Date!
7th Annual
Beyond Risk Conference
Saturday, April 25
10 a.m.-2:00 p.m. (Lunch will be provided)
Nationwide and Ohio Farm Bureau
4-H Center
2201 Fred Taylor Dr.
Columbus, OH 43210
www.ohio4-hcenter.org/features.html
Check your mailboxes in the next few
weeks for a registration brochure or
contact us at [email protected]
for more information.
Our seventh annual Beyond Risk Conference for
individuals with Hereditary Breast Ovarian Cancer
(HBOC) syndrome is fast approaching! As in previous
years, we will provide information and management
updates for carriers of BRCA mutations to promote
early cancer detection and cancer risk reduction.
Topics to be addressed include impact of social media
on family communication, healthcare legislation and
genetics, what to expect when you have an abnormal
breast exam and research updates. We also hope to
have time for you to make connections with others
so you can meet other families affected by BRCA
mutations, share your stories and support one another.
Waiting for Cancer to Come: Women’s
Experience with Genetic Testing and
Medical Decision Making for Breast
and Ovarian Cancer was written by
Sharlene Hesse-Biber; a Professor of
Sociology and Director of Women’s
Studies & Gender Studies Program
at Boston College in Chestnut Hill,
Massachusetts. I read, and read,
and read; constantly, looking for vital
information, which gives me a different
perspective and teaches me new
things on genetic testing, other genetic
disorders, and life in general. Reading
medical journals is great and all but I
love reading actual books where the
author has first hand experience with
the topic being discussed—she is a
breast cancer survivor. Books provide
me with a deeper understanding that
things, which besiege that issue, are not necessarily so black and white; various
shades of grey emerge.
The book discussed the dilemmas, hopes, and concerns of 64 women who undergo
genetic testing for the BRCA mutation. These are the major points I’ve extracted
from the book:
•The “one size fits all” approach should not apply to those who require genetic
testing; genetic testing situations are as diverse as the individuals who undergo it.
continues on page 4
1
Waiting for Cancer to Come
1
NCCN Breast Cancer Screening Guidelines
2
Patient Story: Janette Cole
3 Current Management Guidelines for BRCA Carriers
6 Save the Date! 7th Annual Beyond Risk Conference
NCCN
Breast Cancer
Screening
Guidelines
The National Comprehensive Cancer
Network (NCCN) is a consortium of
the leading cancer treatment and
research centers in the U.S., including
the James Cancer Hospital. The NCCN
publishes annually updated guidelines
covering screening and management
recommendations for people with BRCA
mutations. One significant change in the
guidelines for 2014 was a recommendation
that BRCA carriers no longer undergo
mammograms before age 30. They call for
annual MRI for breast imaging between
ages 25 and 29, and then mammograms
along with MRI annually from age 30.
This arose from a number of pieces of
evidence. Firstly there is evidence that
women in the general public (without
known BRCA mutations) have an increased
risk for breast cancer if they have
significant earlier radiation exposure in
childhood and early adulthood.1 There has
also been ongoing theoretical concern that
BRCA carriers may be more susceptible
continues on page 4
2
beyond RISK
3
Janette Cole
My name is Janette Cole and I have been
a registered nurse for 20 years.
My career has taken several turns to include home health case
management, pediatric office, Children’s Hospital, dermatology
and finally an oncology nurse specializing in melanoma here at
The James. Working with oncology patients has been the most
rewarding yet challenging path I have taken. This is what I love
and where I belong.
I have always known that cancer runs in my family. I really
started to pay closer attention when my aunt and cousin both
got breast cancer at about the same time. They were the third
and fourth family members with breast cancer diagnosed on my
dad’s side. It was right around this time that I started working
at The James. Several times during my orientation, there was
explanation and presentation of genetic testing. Every time
it was mentioned, something inside me seemed to lead me
toward finding out more. With the strong family history, I met
with a genetic counselor. I had to do a very complete family
history with details of cancers, ages of onset and mortality.
During this time, my cousin and my aunt tested positive for a
BRCA2 mutation. With that information and my family history, it
was decided that I qualified for the testing. They only tested for
the very specific mutation that was positive in my cousin and
aunt. My test came back that I also have the BRCA2 mutation.
The most difficult thought that passed through my mind wasn’t
that I was positive, it was that each of my two daughters has a
50 percent chance of getting this BRCA2 mutation from me.
beyond RISK
Current Management Guidelines for BRCA Carriers
I then proceeded with a series of appointments with physicians
to determine what options I had. There was a 50-85 percent
chance that I would develop breast cancer and up 27 percent
chance of getting ovarian cancer. I knew ovarian cancer is
difficult to detect at an early stage. I could alternate every six
months with an MRI and mammogram and hopefully find the
breast cancer at an early stage. The other option was surgical.
I could also have a total hysterectomy with bilateral salpingooophorectomy to greatly decrease the ovarian cancer risk as well
as reduce the breast cancer risk by eliminating the amount of
estrogen circulating. After weighing my options, I firmly decided
to take the surgical approach. This decision was met with quite
opinionated remarks from both friends and family alike. Some in
agreement with my decision and some that didn’t agree at all. This
was a very personal decision on many levels. The hysterectomy
would put me in instant menopause without relief from estrogen
replacement due to its triggering breast cancer for my condition,
and a bilateral mastectomy for its physical reasons. Surgery itself is
not without its risks. Thankfully, my husband was in full support of
my decision throughout the process.
The first surgery scheduled was the total hysterectomy in
September 2011. The surgery went well but not without its
post-operation complication. Three weeks after the operation
I developed adhesions and this caused a volvulus (an
obstruction caused by twisting of the stomach or intestine)
resulting in emergency surgery and a resection of 14 inches of
my small bowel. This recovery took a couple months to regain
my strength. Because of this complication, I delayed my bilateral
mastectomy with tissue expanders until September 2012. Then
the next six months I had frequent appointments to fill the tissue
expanders. This process was much easier than anticipated.
The last step was the final surgical procedure of replacing
the expanders with silicone implants. I had the procedure in
October 2013 on a Thursday and was back to work the following
Tuesday. I was not a suitable candidate for Tamoxifen due to the
increased incidence of blood clots in my familial history.
Looking back at the entire process, I realize all I have been
through. There was never really a question of what needed
to be done when I was diagnosed. I knew my goal was to be
around for a long time for my two beautiful daughters and loving
husband. It was my decision and I knew what needed to be
done to decrease my risk. I thank my surgeons at The James,
the OR, my coworkers, family, friends and my church for helping
me and my family through this entire process. This has taught
me to not take life for granted and has helped me to develop
a better appreciation of what my patients endure daily.
*Please note that the recent United States Preventative
Services Task Force recommendations against doing screening
mammography between ages 40 and 50 do not apply to BRCA
carriers and other high-risk women.
Men:
• Breast self-exam training and education starting at age 35.
•Clinical breast examination every 6-12 months beginning
at age 35.
Women:
•Consider baseline mammogram at age 40; annual
mammogram if you have a lot of breast tissue or dense
breast tissue on baseline mammogram.
•Prostate cancer screening starting at age 40 for BRCA2
mutation carriers (and consider for BRCA1 mutation
carriers as well) with annual PSA blood tests and
digital rectal exams.
•Breast awareness beginning at age 18. Women should be
familiar with their breasts and promptly report changes to their
healthcare provider. Periodic, consistent breast self-exam
(BSE) may facilitate breast self awareness. Premenopausal
women may find BSE most informative when performed
at the end of menses.
Men and Women:
•Clinical breast examination every 6-12 months beginning
at age 25.
•Be aware of the signs and symptoms of cancer(s),
especially those associated with BRCA gene mutations.
• Breast screening
•No specific guidelines exist for pancreatic cancer and
melanoma, but screening may be individualized based
on cancers observed in the family. Consider full-body skin
exam for melanoma and investigational protocols
for pancreatic cancer.
– Age 25-29 or 10 years earlier than the youngest breast
cancer diagnosis in the family, whichever is earlier, annual
breast MRI (preferably on days 7-15 of the menstrual cycle
for premenopausal women) or mammogram if MRI is
unavailable.
– Age 30-75, annual mammography and breast MRI.
– Age >75, management should be considered on an
individual basis.
• Consider risk-reducing mastectomy.
•Risk-reducing bilateral salpingo-oophorectomy (removal of
the ovaries and fallopian tubes) is recommended after child
bearing and ideally between 35-40 years of age.
•For women who have not elected bilateral salpingooophorectomy, consider transvaginal ultrasound with
color-Doppler (preferably day 1-10 of menstrual cycle) and
CA-125 (preferably after day 5 of menstrual cycle) every 6
months for premenopausal women. This should begin at age
30, or 5-10 years prior to the earliest age at which ovarian
cancer was diagnosed in family, whichever is earlier.
•Consider chemoprevention options such as Tamoxifen
and oral contraceptives.
•Consider investigational imaging and screening studies,
when available, in the context of a clinical trial.
•Follow general population screening guidelines for
other cancers.
Risk to Relatives:
•Inform family members about inherited cancer risk to relatives,
options for risk assessment and management.
•Recommend genetic counseling and consideration of genetic
testing for at-risk relatives.
Reproductive Options:
•For those individuals who seek to avoid having a child with
a BRCA mutation, consider genetic counseling to discuss
options for prenatal diagnosis and assisted reproductive
technologies. Become informed about the risks, limitations
and benefits of these technologies.
•Genetic counseling for BRCA2 mutation carriers, to discuss
the risk of a rare (recessive) Fanconi anemia/brain tumor
phenotype in offspring. This occurs when both parents are
carriers of a BRCA2 mutation and both pass the mutation
to their offspring. This situation is extremely rare.
beyond RISK
4
NCCN Breast Cancer Screening Guidelines continued from page 1 . . .
than most women to the DNA-damaging effects of radiation
since BRCA1 and BRCA2 are involved in repairing some types
of DNA damage. The small number of previous studies looking
at mammograms and breast cancer risk in BRCA carriers had
come to mixed conclusions, with two finding no increased risk,
and two finding increased risks, particularly in women exposed
at a young age.
Several recent studies, while not large enough to be
completely conclusive, provided enough evidence for NCCN
to recommend against mammograms in women before age
30. Pijpe and colleagues2 published findings from a European
collaborative study of almost 2,000 BRCA mutation carriers,
which found that exposure to diagnostic radiation before
age 30 was associated with an increased breast cancer risk.
Interestingly, no association was found with radiation exposure
between ages 30 and 39. Chubiz and colleagues3 performed
a computer simulation model on radiation risk in BRCA
carriers, and found the greatest benefit from doing MRI only
before age 30, and combined MRI and mammograms after.
Similarly, computer modeling done by de Bock and colleagues4
predicted the greatest gain in survival and greatest costeffectiveness for the same approach. Based on this evidence,
the NCCN guidelines were changed to limit exposure in
younger women.
1.Ronckers CM, Erdmann CA, Land CE. Radiation and breast cancer:
a review of current evidence. Breast Cancer Res 2005;7:21-32.
2.Pijpe, A et al., Exposure to diagnostic radiation and risk of breast
cancer among carriers of BRCA1/2 mutations: retrospective cohort
study (GENE-RAD-RISK). Br Med J 2012;345:e5660.
3.Chubiz JE et al., Cost-effectiveness of alternating magnetic
resonance imaging and digital mammography screening in BRCA1
and BRCA2 gene mutation carriers. Cancer 2013;119:1266-76.
4.De Bock GH et al., Which screening strategy should be offered
to women with BRCA1 or BRCA2 mutations? A simulation of
comparative cost-effectiveness. Br J Cancer 2103;108:1579-86.
Waiting for Cancer to Come continued from page 1 . . .
•Many factors determine whether or not someone gets
genetically tested, but mostly, a sibling or parent’s cancer
narrative usually determines if one gets tested.
•Life for people after genetic testing for BRCA is not the
same — this information can transform one’s life and it’s
not always positive.
• Currently, genetic testing offers tests for 1,200 different diseases.
•The book discusses the provocative politics behind the
practices of some genetic testing companies and the
implications for when a genetic testing company refuses to
share genetic information from diagnostic tests. It basically
prevents other scientists from making progress in furthering
research and possibly saving lives.
•The book raises interesting questions regarding the ethical
responsibility of genetic testing companies; for example,
where does their involvement in order to help someone
reduce their risk of developing cancer stop? What kind of
resources does that genetic testing company offer a patient
for emotional support or for further information?
•The book includes the plethora of reasons why some
people won’t get tested including: employment or insurance
discrimination, emotional or psychological damages, poor
reactions from family members, and the uncertainty of a
false-positive test result.
•The book addresses the issues when a genetic testing
company markets a genetic test to general practitioners
instead of using a genetic counselor; these doctors usually
have very little experience with cancer and genetic counseling,
which in turn may leave a patient in limbo with their diagnosis
along with a high level of uncertainty and anxiety.
•She reinforces the importance to meet and have your testing
through a genetic counselor; they are highly capable of
interpreting your results and then will guide you through your
next appropriate steps.
•This notion of “knowledge is power” is not entirely true—
many genetic testing companies do not provide patients
with the resources for patients to medically empower
continues on page 5
2
beyond RISK
3
Janette Cole
My name is Janette Cole and I have been
a registered nurse for 20 years.
My career has taken several turns to include home health case
management, pediatric office, Children’s Hospital, dermatology
and finally an oncology nurse specializing in melanoma here at
The James. Working with oncology patients has been the most
rewarding yet challenging path I have taken. This is what I love
and where I belong.
I have always known that cancer runs in my family. I really
started to pay closer attention when my aunt and cousin both
got breast cancer at about the same time. They were the third
and fourth family members with breast cancer diagnosed on my
dad’s side. It was right around this time that I started working
at The James. Several times during my orientation, there was
explanation and presentation of genetic testing. Every time
it was mentioned, something inside me seemed to lead me
toward finding out more. With the strong family history, I met
with a genetic counselor. I had to do a very complete family
history with details of cancers, ages of onset and mortality.
During this time, my cousin and my aunt tested positive for a
BRCA2 mutation. With that information and my family history, it
was decided that I qualified for the testing. They only tested for
the very specific mutation that was positive in my cousin and
aunt. My test came back that I also have the BRCA2 mutation.
The most difficult thought that passed through my mind wasn’t
that I was positive, it was that each of my two daughters has a
50 percent chance of getting this BRCA2 mutation from me.
beyond RISK
Current Management Guidelines for BRCA Carriers
I then proceeded with a series of appointments with physicians
to determine what options I had. There was a 50-85 percent
chance that I would develop breast cancer and up 27 percent
chance of getting ovarian cancer. I knew ovarian cancer is
difficult to detect at an early stage. I could alternate every six
months with an MRI and mammogram and hopefully find the
breast cancer at an early stage. The other option was surgical.
I could also have a total hysterectomy with bilateral salpingooophorectomy to greatly decrease the ovarian cancer risk as well
as reduce the breast cancer risk by eliminating the amount of
estrogen circulating. After weighing my options, I firmly decided
to take the surgical approach. This decision was met with quite
opinionated remarks from both friends and family alike. Some in
agreement with my decision and some that didn’t agree at all. This
was a very personal decision on many levels. The hysterectomy
would put me in instant menopause without relief from estrogen
replacement due to its triggering breast cancer for my condition,
and a bilateral mastectomy for its physical reasons. Surgery itself is
not without its risks. Thankfully, my husband was in full support of
my decision throughout the process.
The first surgery scheduled was the total hysterectomy in
September 2011. The surgery went well but not without its
post-operation complication. Three weeks after the operation
I developed adhesions and this caused a volvulus (an
obstruction caused by twisting of the stomach or intestine)
resulting in emergency surgery and a resection of 14 inches of
my small bowel. This recovery took a couple months to regain
my strength. Because of this complication, I delayed my bilateral
mastectomy with tissue expanders until September 2012. Then
the next six months I had frequent appointments to fill the tissue
expanders. This process was much easier than anticipated.
The last step was the final surgical procedure of replacing
the expanders with silicone implants. I had the procedure in
October 2013 on a Thursday and was back to work the following
Tuesday. I was not a suitable candidate for Tamoxifen due to the
increased incidence of blood clots in my familial history.
Looking back at the entire process, I realize all I have been
through. There was never really a question of what needed
to be done when I was diagnosed. I knew my goal was to be
around for a long time for my two beautiful daughters and loving
husband. It was my decision and I knew what needed to be
done to decrease my risk. I thank my surgeons at The James,
the OR, my coworkers, family, friends and my church for helping
me and my family through this entire process. This has taught
me to not take life for granted and has helped me to develop
a better appreciation of what my patients endure daily.
*Please note that the recent United States Preventative
Services Task Force recommendations against doing screening
mammography between ages 40 and 50 do not apply to BRCA
carriers and other high-risk women.
Men:
• Breast self-exam training and education starting at age 35.
•Clinical breast examination every 6-12 months beginning
at age 35.
Women:
•Consider baseline mammogram at age 40; annual
mammogram if you have a lot of breast tissue or dense
breast tissue on baseline mammogram.
•Prostate cancer screening starting at age 40 for BRCA2
mutation carriers (and consider for BRCA1 mutation
carriers as well) with annual PSA blood tests and
digital rectal exams.
•Breast awareness beginning at age 18. Women should be
familiar with their breasts and promptly report changes to their
healthcare provider. Periodic, consistent breast self-exam
(BSE) may facilitate breast self awareness. Premenopausal
women may find BSE most informative when performed
at the end of menses.
Men and Women:
•Clinical breast examination every 6-12 months beginning
at age 25.
•Be aware of the signs and symptoms of cancer(s),
especially those associated with BRCA gene mutations.
• Breast screening
•No specific guidelines exist for pancreatic cancer and
melanoma, but screening may be individualized based
on cancers observed in the family. Consider full-body skin
exam for melanoma and investigational protocols
for pancreatic cancer.
– Age 25-29 or 10 years earlier than the youngest breast
cancer diagnosis in the family, whichever is earlier, annual
breast MRI (preferably on days 7-15 of the menstrual cycle
for premenopausal women) or mammogram if MRI is
unavailable.
– Age 30-75, annual mammography and breast MRI.
– Age >75, management should be considered on an
individual basis.
• Consider risk-reducing mastectomy.
•Risk-reducing bilateral salpingo-oophorectomy (removal of
the ovaries and fallopian tubes) is recommended after child
bearing and ideally between 35-40 years of age.
•For women who have not elected bilateral salpingooophorectomy, consider transvaginal ultrasound with
color-Doppler (preferably day 1-10 of menstrual cycle) and
CA-125 (preferably after day 5 of menstrual cycle) every 6
months for premenopausal women. This should begin at age
30, or 5-10 years prior to the earliest age at which ovarian
cancer was diagnosed in family, whichever is earlier.
•Consider chemoprevention options such as Tamoxifen
and oral contraceptives.
•Consider investigational imaging and screening studies,
when available, in the context of a clinical trial.
•Follow general population screening guidelines for
other cancers.
Risk to Relatives:
•Inform family members about inherited cancer risk to relatives,
options for risk assessment and management.
•Recommend genetic counseling and consideration of genetic
testing for at-risk relatives.
Reproductive Options:
•For those individuals who seek to avoid having a child with
a BRCA mutation, consider genetic counseling to discuss
options for prenatal diagnosis and assisted reproductive
technologies. Become informed about the risks, limitations
and benefits of these technologies.
•Genetic counseling for BRCA2 mutation carriers, to discuss
the risk of a rare (recessive) Fanconi anemia/brain tumor
phenotype in offspring. This occurs when both parents are
carriers of a BRCA2 mutation and both pass the mutation
to their offspring. This situation is extremely rare.
beyond RISK
4
NCCN Breast Cancer Screening Guidelines continued from page 1 . . .
than most women to the DNA-damaging effects of radiation
since BRCA1 and BRCA2 are involved in repairing some types
of DNA damage. The small number of previous studies looking
at mammograms and breast cancer risk in BRCA carriers had
come to mixed conclusions, with two finding no increased risk,
and two finding increased risks, particularly in women exposed
at a young age.
Several recent studies, while not large enough to be
completely conclusive, provided enough evidence for NCCN
to recommend against mammograms in women before age
30. Pijpe and colleagues2 published findings from a European
collaborative study of almost 2,000 BRCA mutation carriers,
which found that exposure to diagnostic radiation before
age 30 was associated with an increased breast cancer risk.
Interestingly, no association was found with radiation exposure
between ages 30 and 39. Chubiz and colleagues3 performed
a computer simulation model on radiation risk in BRCA
carriers, and found the greatest benefit from doing MRI only
before age 30, and combined MRI and mammograms after.
Similarly, computer modeling done by de Bock and colleagues4
predicted the greatest gain in survival and greatest costeffectiveness for the same approach. Based on this evidence,
the NCCN guidelines were changed to limit exposure in
younger women.
1.Ronckers CM, Erdmann CA, Land CE. Radiation and breast cancer:
a review of current evidence. Breast Cancer Res 2005;7:21-32.
2.Pijpe, A et al., Exposure to diagnostic radiation and risk of breast
cancer among carriers of BRCA1/2 mutations: retrospective cohort
study (GENE-RAD-RISK). Br Med J 2012;345:e5660.
3.Chubiz JE et al., Cost-effectiveness of alternating magnetic
resonance imaging and digital mammography screening in BRCA1
and BRCA2 gene mutation carriers. Cancer 2013;119:1266-76.
4.De Bock GH et al., Which screening strategy should be offered
to women with BRCA1 or BRCA2 mutations? A simulation of
comparative cost-effectiveness. Br J Cancer 2103;108:1579-86.
Waiting for Cancer to Come continued from page 1 . . .
•Many factors determine whether or not someone gets
genetically tested, but mostly, a sibling or parent’s cancer
narrative usually determines if one gets tested.
•Life for people after genetic testing for BRCA is not the
same — this information can transform one’s life and it’s
not always positive.
• Currently, genetic testing offers tests for 1,200 different diseases.
•The book discusses the provocative politics behind the
practices of some genetic testing companies and the
implications for when a genetic testing company refuses to
share genetic information from diagnostic tests. It basically
prevents other scientists from making progress in furthering
research and possibly saving lives.
•The book raises interesting questions regarding the ethical
responsibility of genetic testing companies; for example,
where does their involvement in order to help someone
reduce their risk of developing cancer stop? What kind of
resources does that genetic testing company offer a patient
for emotional support or for further information?
•The book includes the plethora of reasons why some
people won’t get tested including: employment or insurance
discrimination, emotional or psychological damages, poor
reactions from family members, and the uncertainty of a
false-positive test result.
•The book addresses the issues when a genetic testing
company markets a genetic test to general practitioners
instead of using a genetic counselor; these doctors usually
have very little experience with cancer and genetic counseling,
which in turn may leave a patient in limbo with their diagnosis
along with a high level of uncertainty and anxiety.
•She reinforces the importance to meet and have your testing
through a genetic counselor; they are highly capable of
interpreting your results and then will guide you through your
next appropriate steps.
•This notion of “knowledge is power” is not entirely true—
many genetic testing companies do not provide patients
with the resources for patients to medically empower
continues on page 5
2
beyond RISK
3
Janette Cole
My name is Janette Cole and I have been
a registered nurse for 20 years.
My career has taken several turns to include home health case
management, pediatric office, Children’s Hospital, dermatology
and finally an oncology nurse specializing in melanoma here at
The James. Working with oncology patients has been the most
rewarding yet challenging path I have taken. This is what I love
and where I belong.
I have always known that cancer runs in my family. I really
started to pay closer attention when my aunt and cousin both
got breast cancer at about the same time. They were the third
and fourth family members with breast cancer diagnosed on my
dad’s side. It was right around this time that I started working
at The James. Several times during my orientation, there was
explanation and presentation of genetic testing. Every time
it was mentioned, something inside me seemed to lead me
toward finding out more. With the strong family history, I met
with a genetic counselor. I had to do a very complete family
history with details of cancers, ages of onset and mortality.
During this time, my cousin and my aunt tested positive for a
BRCA2 mutation. With that information and my family history, it
was decided that I qualified for the testing. They only tested for
the very specific mutation that was positive in my cousin and
aunt. My test came back that I also have the BRCA2 mutation.
The most difficult thought that passed through my mind wasn’t
that I was positive, it was that each of my two daughters has a
50 percent chance of getting this BRCA2 mutation from me.
beyond RISK
Current Management Guidelines for BRCA Carriers
I then proceeded with a series of appointments with physicians
to determine what options I had. There was a 50-85 percent
chance that I would develop breast cancer and up 27 percent
chance of getting ovarian cancer. I knew ovarian cancer is
difficult to detect at an early stage. I could alternate every six
months with an MRI and mammogram and hopefully find the
breast cancer at an early stage. The other option was surgical.
I could also have a total hysterectomy with bilateral salpingooophorectomy to greatly decrease the ovarian cancer risk as well
as reduce the breast cancer risk by eliminating the amount of
estrogen circulating. After weighing my options, I firmly decided
to take the surgical approach. This decision was met with quite
opinionated remarks from both friends and family alike. Some in
agreement with my decision and some that didn’t agree at all. This
was a very personal decision on many levels. The hysterectomy
would put me in instant menopause without relief from estrogen
replacement due to its triggering breast cancer for my condition,
and a bilateral mastectomy for its physical reasons. Surgery itself is
not without its risks. Thankfully, my husband was in full support of
my decision throughout the process.
The first surgery scheduled was the total hysterectomy in
September 2011. The surgery went well but not without its
post-operation complication. Three weeks after the operation
I developed adhesions and this caused a volvulus (an
obstruction caused by twisting of the stomach or intestine)
resulting in emergency surgery and a resection of 14 inches of
my small bowel. This recovery took a couple months to regain
my strength. Because of this complication, I delayed my bilateral
mastectomy with tissue expanders until September 2012. Then
the next six months I had frequent appointments to fill the tissue
expanders. This process was much easier than anticipated.
The last step was the final surgical procedure of replacing
the expanders with silicone implants. I had the procedure in
October 2013 on a Thursday and was back to work the following
Tuesday. I was not a suitable candidate for Tamoxifen due to the
increased incidence of blood clots in my familial history.
Looking back at the entire process, I realize all I have been
through. There was never really a question of what needed
to be done when I was diagnosed. I knew my goal was to be
around for a long time for my two beautiful daughters and loving
husband. It was my decision and I knew what needed to be
done to decrease my risk. I thank my surgeons at The James,
the OR, my coworkers, family, friends and my church for helping
me and my family through this entire process. This has taught
me to not take life for granted and has helped me to develop
a better appreciation of what my patients endure daily.
*Please note that the recent United States Preventative
Services Task Force recommendations against doing screening
mammography between ages 40 and 50 do not apply to BRCA
carriers and other high-risk women.
Men:
• Breast self-exam training and education starting at age 35.
•Clinical breast examination every 6-12 months beginning
at age 35.
Women:
•Consider baseline mammogram at age 40; annual
mammogram if you have a lot of breast tissue or dense
breast tissue on baseline mammogram.
•Prostate cancer screening starting at age 40 for BRCA2
mutation carriers (and consider for BRCA1 mutation
carriers as well) with annual PSA blood tests and
digital rectal exams.
•Breast awareness beginning at age 18. Women should be
familiar with their breasts and promptly report changes to their
healthcare provider. Periodic, consistent breast self-exam
(BSE) may facilitate breast self awareness. Premenopausal
women may find BSE most informative when performed
at the end of menses.
Men and Women:
•Clinical breast examination every 6-12 months beginning
at age 25.
•Be aware of the signs and symptoms of cancer(s),
especially those associated with BRCA gene mutations.
• Breast screening
•No specific guidelines exist for pancreatic cancer and
melanoma, but screening may be individualized based
on cancers observed in the family. Consider full-body skin
exam for melanoma and investigational protocols
for pancreatic cancer.
– Age 25-29 or 10 years earlier than the youngest breast
cancer diagnosis in the family, whichever is earlier, annual
breast MRI (preferably on days 7-15 of the menstrual cycle
for premenopausal women) or mammogram if MRI is
unavailable.
– Age 30-75, annual mammography and breast MRI.
– Age >75, management should be considered on an
individual basis.
• Consider risk-reducing mastectomy.
•Risk-reducing bilateral salpingo-oophorectomy (removal of
the ovaries and fallopian tubes) is recommended after child
bearing and ideally between 35-40 years of age.
•For women who have not elected bilateral salpingooophorectomy, consider transvaginal ultrasound with
color-Doppler (preferably day 1-10 of menstrual cycle) and
CA-125 (preferably after day 5 of menstrual cycle) every 6
months for premenopausal women. This should begin at age
30, or 5-10 years prior to the earliest age at which ovarian
cancer was diagnosed in family, whichever is earlier.
•Consider chemoprevention options such as Tamoxifen
and oral contraceptives.
•Consider investigational imaging and screening studies,
when available, in the context of a clinical trial.
•Follow general population screening guidelines for
other cancers.
Risk to Relatives:
•Inform family members about inherited cancer risk to relatives,
options for risk assessment and management.
•Recommend genetic counseling and consideration of genetic
testing for at-risk relatives.
Reproductive Options:
•For those individuals who seek to avoid having a child with
a BRCA mutation, consider genetic counseling to discuss
options for prenatal diagnosis and assisted reproductive
technologies. Become informed about the risks, limitations
and benefits of these technologies.
•Genetic counseling for BRCA2 mutation carriers, to discuss
the risk of a rare (recessive) Fanconi anemia/brain tumor
phenotype in offspring. This occurs when both parents are
carriers of a BRCA2 mutation and both pass the mutation
to their offspring. This situation is extremely rare.
beyond RISK
4
NCCN Breast Cancer Screening Guidelines continued from page 1 . . .
than most women to the DNA-damaging effects of radiation
since BRCA1 and BRCA2 are involved in repairing some types
of DNA damage. The small number of previous studies looking
at mammograms and breast cancer risk in BRCA carriers had
come to mixed conclusions, with two finding no increased risk,
and two finding increased risks, particularly in women exposed
at a young age.
Several recent studies, while not large enough to be
completely conclusive, provided enough evidence for NCCN
to recommend against mammograms in women before age
30. Pijpe and colleagues2 published findings from a European
collaborative study of almost 2,000 BRCA mutation carriers,
which found that exposure to diagnostic radiation before
age 30 was associated with an increased breast cancer risk.
Interestingly, no association was found with radiation exposure
between ages 30 and 39. Chubiz and colleagues3 performed
a computer simulation model on radiation risk in BRCA
carriers, and found the greatest benefit from doing MRI only
before age 30, and combined MRI and mammograms after.
Similarly, computer modeling done by de Bock and colleagues4
predicted the greatest gain in survival and greatest costeffectiveness for the same approach. Based on this evidence,
the NCCN guidelines were changed to limit exposure in
younger women.
1.Ronckers CM, Erdmann CA, Land CE. Radiation and breast cancer:
a review of current evidence. Breast Cancer Res 2005;7:21-32.
2.Pijpe, A et al., Exposure to diagnostic radiation and risk of breast
cancer among carriers of BRCA1/2 mutations: retrospective cohort
study (GENE-RAD-RISK). Br Med J 2012;345:e5660.
3.Chubiz JE et al., Cost-effectiveness of alternating magnetic
resonance imaging and digital mammography screening in BRCA1
and BRCA2 gene mutation carriers. Cancer 2013;119:1266-76.
4.De Bock GH et al., Which screening strategy should be offered
to women with BRCA1 or BRCA2 mutations? A simulation of
comparative cost-effectiveness. Br J Cancer 2103;108:1579-86.
Waiting for Cancer to Come continued from page 1 . . .
•Many factors determine whether or not someone gets
genetically tested, but mostly, a sibling or parent’s cancer
narrative usually determines if one gets tested.
•Life for people after genetic testing for BRCA is not the
same — this information can transform one’s life and it’s
not always positive.
• Currently, genetic testing offers tests for 1,200 different diseases.
•The book discusses the provocative politics behind the
practices of some genetic testing companies and the
implications for when a genetic testing company refuses to
share genetic information from diagnostic tests. It basically
prevents other scientists from making progress in furthering
research and possibly saving lives.
•The book raises interesting questions regarding the ethical
responsibility of genetic testing companies; for example,
where does their involvement in order to help someone
reduce their risk of developing cancer stop? What kind of
resources does that genetic testing company offer a patient
for emotional support or for further information?
•The book includes the plethora of reasons why some
people won’t get tested including: employment or insurance
discrimination, emotional or psychological damages, poor
reactions from family members, and the uncertainty of a
false-positive test result.
•The book addresses the issues when a genetic testing
company markets a genetic test to general practitioners
instead of using a genetic counselor; these doctors usually
have very little experience with cancer and genetic counseling,
which in turn may leave a patient in limbo with their diagnosis
along with a high level of uncertainty and anxiety.
•She reinforces the importance to meet and have your testing
through a genetic counselor; they are highly capable of
interpreting your results and then will guide you through your
next appropriate steps.
•This notion of “knowledge is power” is not entirely true—
many genetic testing companies do not provide patients
with the resources for patients to medically empower
continues on page 5
5
beyond RISK
THE OHIO STATE UNIVERSITY COMPREHENSIVE CANCER CENTER –
ARTHUR G. JAMES CANCER HOSPITAL AND RICHARD J. SOLOVE RESEARCH INSTITUTE
Waiting for Cancer to Come continued from page 4 . . .
themselves after testing. Again, this is why it’s important
to see a genetic counselor.
•Genetic testing can often lead to isolation and stigmatization
within a family and therefore it’s not always beneficial. This
has been the case within my own family.
•Women with HBOC who have a desire to have prophylactic
surgery tend to marry earlier and have children sooner.
•Most women get genetically tested simply to “beat” cancer.
Well, I know I did, in hopes of beating ovarian cancer.
•Countless circumstances determine whether or not a woman
will undergo testing: age, children, employment, ethnicity,
and education level; most women do it for their families,
specifically their children—they want to be around for their
children. At the same time, they hold tremendous guilt for
unknowingly passing this onto their children.
•Various cultural influences play a role in a decision to get
tested; for example, some Orthodox Jewish fathers prefer
their daughters do not undergo genetic testing prior to
marriage; Jewish law mandates that women should only
“seek knowledge” if she is capable of dealing with it.
•When one woman within a family tests positive for BRCA,
many other female members of their family are more likely
to be tested.
•Who gets tested? 90 percent were Caucasian, 80 percent
identified themselves as middle-class, and none of them
deemed themselves lower class; the socio-economical
disparities in genetic testing amongst women is appalling.
•Women who are not white, well-educated, and well-off
are less likely to be tested. Poor women are less likely to
receive genetic counseling, good medical treatment, and
visit oncologists.
•Some women find their diagnosis to be the impetus for them
to make serious changes in their lives; for example, one
woman decided to get that much-needed divorce which she
had been putting off for so long. Some feel if their time is
limited then they should make the most out of it and be happy
as possible.
•If someone has not seen someone die of the cancer within
their family which they’re possibly at risk for, it can definitely
negatively affect their decision making process in regards to
genetic testing and prophylactic surgeries.
I could go on and on with the salient points of Waiting for
Cancer to Come, but I won’t because I want you to read it.
Professor Hesse-Biber does a remarkable job of discussing
the various issues which influence how, why, when, and who
gets genetically tested and takes prophylactic measures to
prevent malignancy to their organs. The one thing I wish she
had gone into greater detail about was forced menopause at
an early age and the hells which may follow it. She does not
emphasize this enough. But my beloved Mick Jagger reminds
me of the fact, “You Can’t Always Get What You Want!” Kudos
to her for mentioning BRCA in men and how the removal of
body parts (in this case, of breasts) can make a woman feel
defeminized; something which I frequently discuss as a result
of my oophorectomy. The bottom line: most women are illprepared for these prophylactic surgeries, the conversation
regarding genetic testing, and that genetic testing for mutations
need to be more inclusive of various groups — the voices of the
marginalized need to be heard, too. I highly recommend this
book to doctors, genetic counselors, advocates, and anyone
else interested in truly understanding the complexity behind
the variables of genetic testing. Though this solely focuses on
BRCA, many of these observations are relevant and mirror many
issues regarding other deleterious gene mutations.
The book may be found at: http://www.amazon.com/WaitingCancer-Come-Experiences-Decision/dp/0472052195. It is a
great book to add to your hereditary cancer collection and use
as a reference.
VOL 7
The Ohio State University
Division of Human Genetics
2001 Polaris Parkway
Columbus, Ohio 43240
Waiting for Cancer to Come
by Sharlene Hesse-Biber
Reviewed and excerpt reprinted with permission from:
Georgia Hurst on her blog ihavelynchsyndrome.com
Save the Date!
7th Annual
Beyond Risk Conference
Saturday, April 25
10 a.m.-2:00 p.m. (Lunch will be provided)
Nationwide and Ohio Farm Bureau
4-H Center
2201 Fred Taylor Dr.
Columbus, OH 43210
www.ohio4-hcenter.org/features.html
Check your mailboxes in the next few
weeks for a registration brochure or
contact us at [email protected]
for more information.
Our seventh annual Beyond Risk Conference for
individuals with Hereditary Breast Ovarian Cancer
(HBOC) syndrome is fast approaching! As in previous
years, we will provide information and management
updates for carriers of BRCA mutations to promote
early cancer detection and cancer risk reduction.
Topics to be addressed include impact of social media
on family communication, healthcare legislation and
genetics, what to expect when you have an abnormal
breast exam and research updates. We also hope to
have time for you to make connections with others
so you can meet other families affected by BRCA
mutations, share your stories and support one another.
Waiting for Cancer to Come: Women’s
Experience with Genetic Testing and
Medical Decision Making for Breast
and Ovarian Cancer was written by
Sharlene Hesse-Biber; a Professor of
Sociology and Director of Women’s
Studies & Gender Studies Program
at Boston College in Chestnut Hill,
Massachusetts. I read, and read,
and read; constantly, looking for vital
information, which gives me a different
perspective and teaches me new
things on genetic testing, other genetic
disorders, and life in general. Reading
medical journals is great and all but I
love reading actual books where the
author has first hand experience with
the topic being discussed—she is a
breast cancer survivor. Books provide
me with a deeper understanding that
things, which besiege that issue, are not necessarily so black and white; various
shades of grey emerge.
The book discussed the dilemmas, hopes, and concerns of 64 women who undergo
genetic testing for the BRCA mutation. These are the major points I’ve extracted
from the book:
•The “one size fits all” approach should not apply to those who require genetic
testing; genetic testing situations are as diverse as the individuals who undergo it.
continues on page 4
1
Waiting for Cancer to Come
1
NCCN Breast Cancer Screening Guidelines
2
Patient Story: Janette Cole
3 Current Management Guidelines for BRCA Carriers
6 Save the Date! 7th Annual Beyond Risk Conference
NCCN
Breast Cancer
Screening
Guidelines
The National Comprehensive Cancer
Network (NCCN) is a consortium of
the leading cancer treatment and
research centers in the U.S., including
the James Cancer Hospital. The NCCN
publishes annually updated guidelines
covering screening and management
recommendations for people with BRCA
mutations. One significant change in the
guidelines for 2014 was a recommendation
that BRCA carriers no longer undergo
mammograms before age 30. They call for
annual MRI for breast imaging between
ages 25 and 29, and then mammograms
along with MRI annually from age 30.
This arose from a number of pieces of
evidence. Firstly there is evidence that
women in the general public (without
known BRCA mutations) have an increased
risk for breast cancer if they have
significant earlier radiation exposure in
childhood and early adulthood.1 There has
also been ongoing theoretical concern that
BRCA carriers may be more susceptible
continues on page 4
5
beyond RISK
THE OHIO STATE UNIVERSITY COMPREHENSIVE CANCER CENTER –
ARTHUR G. JAMES CANCER HOSPITAL AND RICHARD J. SOLOVE RESEARCH INSTITUTE
Waiting for Cancer to Come continued from page 4 . . .
themselves after testing. Again, this is why it’s important
to see a genetic counselor.
•Genetic testing can often lead to isolation and stigmatization
within a family and therefore it’s not always beneficial. This
has been the case within my own family.
•Women with HBOC who have a desire to have prophylactic
surgery tend to marry earlier and have children sooner.
•Most women get genetically tested simply to “beat” cancer.
Well, I know I did, in hopes of beating ovarian cancer.
•Countless circumstances determine whether or not a woman
will undergo testing: age, children, employment, ethnicity,
and education level; most women do it for their families,
specifically their children—they want to be around for their
children. At the same time, they hold tremendous guilt for
unknowingly passing this onto their children.
•Various cultural influences play a role in a decision to get
tested; for example, some Orthodox Jewish fathers prefer
their daughters do not undergo genetic testing prior to
marriage; Jewish law mandates that women should only
“seek knowledge” if she is capable of dealing with it.
•When one woman within a family tests positive for BRCA,
many other female members of their family are more likely
to be tested.
•Who gets tested? 90 percent were Caucasian, 80 percent
identified themselves as middle-class, and none of them
deemed themselves lower class; the socio-economical
disparities in genetic testing amongst women is appalling.
•Women who are not white, well-educated, and well-off
are less likely to be tested. Poor women are less likely to
receive genetic counseling, good medical treatment, and
visit oncologists.
•Some women find their diagnosis to be the impetus for them
to make serious changes in their lives; for example, one
woman decided to get that much-needed divorce which she
had been putting off for so long. Some feel if their time is
limited then they should make the most out of it and be happy
as possible.
•If someone has not seen someone die of the cancer within
their family which they’re possibly at risk for, it can definitely
negatively affect their decision making process in regards to
genetic testing and prophylactic surgeries.
I could go on and on with the salient points of Waiting for
Cancer to Come, but I won’t because I want you to read it.
Professor Hesse-Biber does a remarkable job of discussing
the various issues which influence how, why, when, and who
gets genetically tested and takes prophylactic measures to
prevent malignancy to their organs. The one thing I wish she
had gone into greater detail about was forced menopause at
an early age and the hells which may follow it. She does not
emphasize this enough. But my beloved Mick Jagger reminds
me of the fact, “You Can’t Always Get What You Want!” Kudos
to her for mentioning BRCA in men and how the removal of
body parts (in this case, of breasts) can make a woman feel
defeminized; something which I frequently discuss as a result
of my oophorectomy. The bottom line: most women are illprepared for these prophylactic surgeries, the conversation
regarding genetic testing, and that genetic testing for mutations
need to be more inclusive of various groups — the voices of the
marginalized need to be heard, too. I highly recommend this
book to doctors, genetic counselors, advocates, and anyone
else interested in truly understanding the complexity behind
the variables of genetic testing. Though this solely focuses on
BRCA, many of these observations are relevant and mirror many
issues regarding other deleterious gene mutations.
The book may be found at: http://www.amazon.com/WaitingCancer-Come-Experiences-Decision/dp/0472052195. It is a
great book to add to your hereditary cancer collection and use
as a reference.
VOL 7
The Ohio State University
Division of Human Genetics
2001 Polaris Parkway
Columbus, Ohio 43240
Waiting for Cancer to Come
by Sharlene Hesse-Biber
Reviewed and excerpt reprinted with permission from:
Georgia Hurst on her blog ihavelynchsyndrome.com
Save the Date!
7th Annual
Beyond Risk Conference
Saturday, April 25
10 a.m.-2:00 p.m. (Lunch will be provided)
Nationwide and Ohio Farm Bureau
4-H Center
2201 Fred Taylor Dr.
Columbus, OH 43210
www.ohio4-hcenter.org/features.html
Check your mailboxes in the next few
weeks for a registration brochure or
contact us at [email protected]
for more information.
Our seventh annual Beyond Risk Conference for
individuals with Hereditary Breast Ovarian Cancer
(HBOC) syndrome is fast approaching! As in previous
years, we will provide information and management
updates for carriers of BRCA mutations to promote
early cancer detection and cancer risk reduction.
Topics to be addressed include impact of social media
on family communication, healthcare legislation and
genetics, what to expect when you have an abnormal
breast exam and research updates. We also hope to
have time for you to make connections with others
so you can meet other families affected by BRCA
mutations, share your stories and support one another.
Waiting for Cancer to Come: Women’s
Experience with Genetic Testing and
Medical Decision Making for Breast
and Ovarian Cancer was written by
Sharlene Hesse-Biber; a Professor of
Sociology and Director of Women’s
Studies & Gender Studies Program
at Boston College in Chestnut Hill,
Massachusetts. I read, and read,
and read; constantly, looking for vital
information, which gives me a different
perspective and teaches me new
things on genetic testing, other genetic
disorders, and life in general. Reading
medical journals is great and all but I
love reading actual books where the
author has first hand experience with
the topic being discussed—she is a
breast cancer survivor. Books provide
me with a deeper understanding that
things, which besiege that issue, are not necessarily so black and white; various
shades of grey emerge.
The book discussed the dilemmas, hopes, and concerns of 64 women who undergo
genetic testing for the BRCA mutation. These are the major points I’ve extracted
from the book:
•The “one size fits all” approach should not apply to those who require genetic
testing; genetic testing situations are as diverse as the individuals who undergo it.
continues on page 4
1
Waiting for Cancer to Come
1
NCCN Breast Cancer Screening Guidelines
2
Patient Story: Janette Cole
3 Current Management Guidelines for BRCA Carriers
6 Save the Date! 7th Annual Beyond Risk Conference
NCCN
Breast Cancer
Screening
Guidelines
The National Comprehensive Cancer
Network (NCCN) is a consortium of
the leading cancer treatment and
research centers in the U.S., including
the James Cancer Hospital. The NCCN
publishes annually updated guidelines
covering screening and management
recommendations for people with BRCA
mutations. One significant change in the
guidelines for 2014 was a recommendation
that BRCA carriers no longer undergo
mammograms before age 30. They call for
annual MRI for breast imaging between
ages 25 and 29, and then mammograms
along with MRI annually from age 30.
This arose from a number of pieces of
evidence. Firstly there is evidence that
women in the general public (without
known BRCA mutations) have an increased
risk for breast cancer if they have
significant earlier radiation exposure in
childhood and early adulthood.1 There has
also been ongoing theoretical concern that
BRCA carriers may be more susceptible
continues on page 4