Download Identification of patients suggestive of hereditary breast and ovarian

Allina Breast Program Committee Consensus Guidelines
These guidelines apply to clinical interventions that have well-documented outcomes,
but whose outcomes are not clearly desirable to all patients
Identification of patients suggestive of hereditary breast and ovarian
cancer syndrome that warrants further professional evaluation.
Approved By: Allina Breast Program Committee
Date of Approval: June 6, 2012
Effective Date: April 23, 2012
Reapproved: June 6, 2014
Revision Due Date:
June 2017
RECOMMENDATIONS:
The following are minimal criteria, mostly prescribed by the National Comprehensive Cancer
Network (NCCN) for consideration of BRCA 1 and BRCA 2 testing*, **. We plan to track a subset
of patients who meet criteria based on their diagnoses alone via the tumor registry as a measure of
quality in this regard.
The following individuals should be referred to a genetic counselor for further evaluation:
With or without personal history of breast cancer AND:
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Individual from family with known deleterious mutation (typically site specific testing
alone is warranted unless there is evidence of more than one heritable risk)
Any male with breast cancer
Any woman with an epithelial*** ovarian/ fallopian tube/primary peritoneal cancer
Personal history of pancreatic cancer (adenocarcinoma) OR high grade prostate cancer
(gleason≥7) at any age with ≥ 2 relatives with breast and/or epithelial** ovarian/ fallopian
tube/primary peritoneal cancer and/or pancreatic cancer at any age and/or high grade
prostate cancer.
Personal history of breast cancer AND one or more than one of the following:
 Diagnosis age ≤ 45
 Diagnosis any age with at least one relative with breast cancer ≤ 50 and/or epithelial ***
ovarian/ fallopian tube/primary peritoneal
 2 primary breast cancers with first occurring ≤ age 50
Guidelines are not meant to replace clinical judgment or professional standards of care. Clinical judgment
must take into consideration all the facts in each individual and particular case, including individual patient
circumstances and patient preferences. They serve to inform clinical judgment, not act as a substitute for it.
These guidelines were developed by a Review Organization. These guidelines may be disclosed only for the
purposes of the Review Organization according to Minn. Statutes §145.64 and are subject to the limitations
described at Minn. Statutes §145.65
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Diagnosis ≤ age 60 with triple negative cancer (1,2)
Diagnosis ≤ age 50 with limited family structure (requires complete pedigree to
demonstrate <2 unaffected females 45 or older in either lineage)(3)
Diagnosis at any age with ≥ 2 close relatives with breast cancer and/or epithelial** ovarian/
fallopian tube/primary peritoneal at any age, pancreatic adenocarcinoma or high grade
prostate cancer (gleason≥7).
Close male relative with breast cancer
No additional history required IF Ashkenazi Jewish or of other ethnicity associated with
higher mutation frequency/founder mutations( Testing should involve founder mutation
testing first; may consider reflex to comprehensive gene testing IF pt would meet criteria
in absence of ancestry)
Diagnosis at any age with ≥ 2 relatives with pancreatic cancer at any age
Unaffected: Family History only****( not covered by Medicare)
 First or second degree relative meeting one of the above criteria
*One or more of the above criteria are suggestive of hereditary breast and ovarian cancer syndrome that warrants further
professional evaluation. Some who meet criteria MAY still not be good candidates for testing, as sporadic cancers can occur in
HBOC families and/or results may not impact medical management. Also, Medicare will not pay for testing on someone without
cancer.
A close relative per NCCN is a first, second or third degree relative. Medicare concurs but most insurers consider this first and
second degree only. The maternal and paternal sides should be considered independently.
** Testing recommended (unless otherwise stated) is comprehensive sequencing and comprehensive
duplication/deletion/rearrangement test; although Medicare and some insurance may not cover the latter.
***Mucinous and borderline tumors are only rarely BRCA related (4).
****No true negative for breast cancer risk without known mutation in affected relatives BUT without mutation or family history
of ovarian cancer. The literature suggests no evidence of high risk for ovarian cancer in familial non-BRCA families (5); mutations
in BRCA 1 and 2 mutations account for only about half of heritable breast cancer and may want to consider other breast cancer
genes (see Special Entities section below).
SCOPE:
Sites, Facilities, Business
Units
All Allina Health Hospitals
and Clinics
(Abbott Northwestern,
Departments,
Divisions, Operational
Areas
Oncology, Primary care,
OB/GYN
VPCI
People applicable to (MD, NP,
Administration, Contractors
etc.)
MDs , Genetic counselors, NPs,
RNs; Care Coordinators
Guidelines are not meant to replace clinical judgment or professional standards of care. Clinical judgment
must take into consideration all the facts in each individual and particular case, including individual patient
circumstances and patient preferences. They serve to inform clinical judgment, not act as a substitute for it.
These guidelines were developed by a Review Organization. These guidelines may be disclosed only for the
purposes of the Review Organization according to Minn. Statutes §145.64 and are subject to the limitations
described at Minn. Statutes §145.65
United, Mercy, Unity,
River Falls, New Ulm,
Buffalo, Cambridge)
OVERVIEW AND SUPPORTING EVIDENCE:
A growing body of evidence supports the benefits of genetic risk assessment, genetic testing and
the efficacy of clinical management in those with a variety of inherited cancer syndromes,
including hereditary breast and ovarian cancer syndrome. The United States Preventive Services
Task Force (USPSTF) recommended genetic risk assessment and evaluation fro BRCA 1 and 2
testing for unaffected individuals at elevated risk of hereditary breast and ovarian cancer syndrome
(HBOC) based on specific family history criteria (6), while at VPCI we have adopted the NCCN
guidelines in our practice (7).
While mutations in these 2 genes account for only about 5% of all breast cancer and 14% of all
ovarian cancer, a survival analysis of BRCA 1 and BRCA 2 carriers revealed that prophylactic
surgery confers a substantial survival probability (8). The results may have a clear impact on
breast screening, as noted by the American Cancer Society (ACS) in 2007 (9).
Even in the absence of a BRCA 1 or BRCA 2 mutation, substantial breast risks may still exist
unless a familial mutation has been excluded and high risk management may still be appropriate,
as outlined by ACS. This is because of the limits of testing and the existence of other
susceptibility genes (see Special Entities). Models such as BRCAPRO, Boadicea, Claus, and
Cuzick-Tyrer all may be helpful, IF properly employed and with a clear understanding of the
strengths and limits of each model. Genetic counseling can help in this regard.
SPECIAL ENTITIES:
CONSIDER OTHER BREAST CANCER GENES: Mutations in BRCA 1 and 2 account for only
about half of heritable breast cancer so consideration of other gene testing should be entertained
depending on histology, personal and family history, technology available and impact on
management.
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TP53: consider with breast cancer diagnosis age ≤ 35(and BRCA negative) and/or family
history suggestive of Li Fraumeni syndrome e.g. close relative with sarcoma, brain tumor,
adrenal cortical tumor diagnosis <46-56 (10, 7)
PTEN: breast cancer + macrocephaly; breast cancer + at least 2 of the following: follicular
thyroid cancer, renal cancer, uterine cancer, hamartomatous polyps etc (11, 7)
Guidelines are not meant to replace clinical judgment or professional standards of care. Clinical judgment
must take into consideration all the facts in each individual and particular case, including individual patient
circumstances and patient preferences. They serve to inform clinical judgment, not act as a substitute for it.
These guidelines were developed by a Review Organization. These guidelines may be disclosed only for the
purposes of the Review Organization according to Minn. Statutes §145.64 and are subject to the limitations
described at Minn. Statutes §145.65
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CDH1: lobular breast cancer + family history of diffuse gastric cancer
STK11: breast cancer + diagnosis criteria for Peutz-Jeghers syndrome (NCCN)
Genomics: Moderate risk breast cancer genes (high with some alleles)—many insurance
companies consider this research.
 PALB2 (breast + pancreatic cancer)
 CHEK2 (bilateral breast cancer, male breast cancer, colon cancer)
 ATM
Whole Exome/genome sequencing; gene panels: now (14 gene panel by Ambry may account for
another 12-30% of familial cluster) and within 5 years whole exome and gene sequencing is likely.
REFERENCES:
1. Kwon JS, Gutierrez-Barrera AM, Young D, et al. Expanding the criteria for BRCA mutation
testing in breast cancer survivors. J Clin Oncol 2010;28(27)4214-20.
2. Gonzalez-Angulo AM,Timms KM, Liu S, et al. Incidence and Outcome of BRCA Mutations in
Unselected Patients with Triple Receptor-Negative Breast Cancer. Clin.Cancer Res
2011;17(5):1082-9.
3. Weitzel JN, Lagos VI, Cullinane CA, et al. Limited family structure and BRCA gene mutation
status in single cases of breast cancer. JAMA 2007;297(23):2587-2595.
4. Pal T, Permuth-Wey J, Betts JA, et al. BRCA1 and BRCA2 mutations account for a large
proportion of ovarian carcinoma cases. Cancer 2005;104(12):2807-16.
5. Kauff ND, Mitra N, Robson ME, et al. Risk of ovarian cancer in BRCA1 and BRCA2 mutationnegative hereditary breast cancer families. J Natl Cancer Inst 2005; 97(18):1382-4.
6. U.S. Preventative Services Task Force. Genetic Risk Assessment and BRCA Mutation Testing
for Breast and Ovarian Cancer Susceptibility: Recommendation Statement. Ann Intern Med
2005;143(5):355-61.
7. National Comprehensive Cancer Network. Genetic/Familial High-Risk Assessment: Breast and
Ovarian. Guidelines Version 1.2011.
http://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf
Guidelines are not meant to replace clinical judgment or professional standards of care. Clinical judgment
must take into consideration all the facts in each individual and particular case, including individual patient
circumstances and patient preferences. They serve to inform clinical judgment, not act as a substitute for it.
These guidelines were developed by a Review Organization. These guidelines may be disclosed only for the
purposes of the Review Organization according to Minn. Statutes §145.64 and are subject to the limitations
described at Minn. Statutes §145.65
8. Domcheck SM, Friebel TM, Singer CF, et al. Association of risk-reducing surgery in BRCA1
or BRCA2 mutation carriers with cancer risk and mortality. JAMA 2010;304(9):967-975.
9. Saslow D, Boetes C, Burke W, et al. American Cancer Society guidelines for breast screening
with MRI as an adjunct to mammography. CA Cancer J Clin 2007;57(2):75-89.
10. Tinat J, Bougeard G, Baert-Desurmont S, et al. 2009 version of the Chompret criteria for Li
Fraumeni syndrome. J Clin Oncol 2009;27(26):e108-e109.
11. Tan MH, Mester JL, Ngeow J, et al. Lifetime Cancer Risks in Individuals with Germline
PTEN Mutations. Clin Cancer Res 2012;18(2):400-7.
Guidelines are not meant to replace clinical judgment or professional standards of care. Clinical judgment
must take into consideration all the facts in each individual and particular case, including individual patient
circumstances and patient preferences. They serve to inform clinical judgment, not act as a substitute for it.
These guidelines were developed by a Review Organization. These guidelines may be disclosed only for the
purposes of the Review Organization according to Minn. Statutes §145.64 and are subject to the limitations
described at Minn. Statutes §145.65