Download Cancer genetics referral guidelines

Cancer genetics referral guidelines
These guidelines aim to help healthcare professionals decide when to refer a
patient to the regional clinical genetic service. This section covers when to
refer someone with a personal or family history of cancer. Not all patients
referred will need to be seen in clinic, in some cases we will write with the
outcome of our assessment.
Family structures and knowledge about family history varies from patient to
patient so the guidelines below cannot incorporate all the possible family
permutations. However, we hope they will help you to decide which families
might have a strong inherited predisposition to cancer and might therefore
benefit from a referral.
If you are not sure whether to refer please contact us. A clinician is
available to answer queries any time between Monday-Friday 9am-5pm,
our telephone number is 02381 206170.
Has your patient got a close relative with cancer?
In these guidelines a close relative is a 1st or 2nd degree relative:

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A 1st degree relative is a child, sibling or parent
A 2nd degree relative is a grandparent, aunt or uncle, niece or
nephew
If your patient is not affected by cancer, and does not have a close relative
with cancer then their family history is unlikely to be due to a high risk cancer
predisposition syndrome and they will be better managed in primary or
secondary care. If in doubt please call us at the above number.
Please refer only those individuals who have at least one first degree relative
with cancer unless:

There is a paternal family history of breast and/or ovarian
cancer. A woman may have paternal aunts or a grandmother
with these cancers and a genetic factor might be passed
through an unaffected father

Where it is known that a mutation in a cancer predisposition
gene is present in the family e.g. a mutation in the BRCA1 or
BRCA2 gene is present
Breast cancer
Patients at moderate additional risk of developing breast cancer based on
family history should be managed in secondary care (usually breast care
services). Contact details for these services can be found at the end of this
document. The genetic service is dedicated to seeing individuals at high
additional risk of developing breast cancer due to a family history.
Please see the latest NICE guidelines on Familial Breast cancer for guidance
on whether your patient is at high risk. Pages 24-25 identify those who should
be referred to a specialist genetics clinic: publications.nice.org.uk/familialbreast-cancer-cg164
The following is a brief summary of family histories where there may be a high
additional risk of breast cancer:

A woman with an oestrogen/progesterone receptor and Her2
expression negative breast tumour (Triple negative) under the age of
40

An individual with a male breast cancer at any age plus one close
relative with breast cancer from the same side of the family

An individual with two close relatives with breast cancer with an
average age of diagnosis under 50 and who come from the same side
of the family

An individual with three close relatives with breast cancer with an
average age of diagnosis under 60 and who come from the same side
of the family

An individual with four close relatives diagnosed at any age and who
come from the same side of the family

An individual with a parent, sibling or child diagnosed with bilateral
breast cancer before the age of 50
For bilateral breast cancer, count as 2 affected cases
The following is a brief summary of family histories where there may be a high
additional risk of ovarian and or breast cancer:

A woman with a serous papillary ovarian cancer with or without a family
history of breast cancer

An individual with one relative with ovarian cancer at any age plus one
close relative with breast cancer before age 50, from the same side of the
family

Two close relatives with ovarian cancer at any age from the same side of
the family

One relative with ovarian cancer at any age plus two close relatives with
breast cancer with an average age of diagnosis under 60 from the same
side of the family
Please contact us if the following features are present in the family in
addition to a family history of breast and or ovarian cancer:

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Jewish ancestry
Sarcoma in a relative younger than age 45 years
Glioma or childhood adrenal cortical carcinoma
The following is a brief summary of family histories where there may be
a high additional risk of bowel (colorectal) cancer:

An individual with or a parent, sibling or child diagnosed with colorectal
cancer before the age of 50

An individual with two close relatives with colorectal cancer with an
average age of diagnosis under 60, and from the same side of the family

An individual with three close relatives with colorectal cancer with an
average age of diagnosis under 70, and from the same side of the family

An individual with one close relative with colorectal cancer diagnosed
under 50 and a family history of endometrial, ovarian, urothelial, gastric or
hepatobiliary cancer on the same side of the family

An individual with one close relative at any age with a proven polyposis
syndrome, for example Familial Adenomatous Polyposis (FAP), MYH
Polyposis-( MutYH associated Polyposis or MAP), Juvenile Polyposis or
Peutz Jegher syndrome
Other Cancers
Unusual clusters of cancers, at least some with relatively young age of
diagnosis (less than 50), in close relatives and on the same side of the family
Genetic Testing for cancer predisposing genes
Genetic testing is most informative when it is initiated in a person in the family
with cancer. Often a familial investigation is best started here and so a referral
of this person, or a suggestion they seek referral to their local genetic service
may help the management of their unaffected relatives. If in doubt please
contact us to enquire.
We are a large regional genetic service covering a population of nearly 3
million people. Inevitably there are a few local variations in service
provision. The following are examples of secondary care services
available in the Wessex region:
Dorset (excluding Poole and Bournemouth)
All family history of breast cancer referrals will be initially assessed by
radiographers at the Dorset breast screening unit at Poole Hospital who will
arrange screening, with annual recall, for those deemed to be at moderate
additional risk. Those thought to be at high additional risk will be referred onto
the genetics service.
Please make referrals to:
Ann Taft
Radiographer practitioner
Dorset breast screening unit
Poole Hospital
Longfleet Road
Poole
BH15 2JB
The referral letter must be accompanied by a completed family history
questionnaire.
Referrals regarding other types of cancer should be made direct to the
genetics service if they meet the above criteria.
Bournemouth and Poole
All referrals for a family history of cancer should be sent to:
The community cancer nursing team (genetics)
Unit 4, Park Place
6 North Road
Poole
BH14 0LY
Telephone: 01202 714 965
The team will assess each referral and triage appropriately. High additional
risk families will be sent on to the cancer genetic service.
Referrals can be sent without a family history questionnaire but your patient
may still wish to complete one as this may speed up the risk assessment
process.
Winchester and Basingstoke
A family history of breast cancer is usually initially assessed by the breast
family history clinic. Referrals should be made to:
Virginia Straker
North and Mid Hants Breast Screening Unit
Florence Portal House
Royal Hampshire County Hospital
Romsey Road
Winchester
Hampshire
SO22 5DG
The team will assess each referral and triage appropriately. High additional
risk families will be sent on to the cancer genetic service.
Southampton
A family history of breast cancer is usually initially assessed by the breast
family history clinic. Referrals should be made to:
Anne Howard
Advanced Practice Radiographer
Southampton Breast Imaging Unit
Mailpoint 105
Princess Anne Hospital
Coxford Road
Southampton
SO16 5YA
A family history of colorectal cancer is usually initially assessed by the bowel
family history clinic. Referrals should be made to:
Sue Park
Colorectal Nurse Practitioner
The team will assess each referral and triage appropriately. High additional
risk families will be sent on to the cancer genetic service.
Bailiwick of Guernsey
Family histories of breast cancer are usually initially assessed by the breast
family history clinic. Referrals should be made to:
Sharon Tracey
Breast Care Nurse
Breast Unit
Princess Elizabeth Hospital
Rue Mignot
St Andrews
Guernsey
GY6 8TW
The team will assess each referral and triage appropriately. High additional
risk families will be sent on to the cancer genetic service.
Portsmouth
Family histories of breast cancer are usually initially assessed by the breast
family history clinic. Referrals should be made to:
Maria Noblet or Rosemary Buck
Breast Screening Unit
Queen Alexandra Hospital
Cosham
Portsmouth
PO6 3LY
Isle of Wight
Family histories of breast cancer are usually initially assessed by the breast
family history clinic. Referrals should be made to:
Clare Hocknull or Alana Bell
Clinical Nurse Specialist
Applegate Breast Care Nurses
St Mary’s Hospital
Newport
Isle of Wight
PO30 5TG
The team will assess each referral and triage appropriately. High additional
risk families will be sent on to the cancer genetic service.
Salisbury
Family histories of breast cancer are usually initially assessed by the breast
family history clinic. Referrals should be made to:
Shirley Holmes or Sonia Dabill
Specialist Breast care Nurse
Salisbury District Hospital
Salisbury
Wiltshire
SP2 8BJ