Cancer Genetics
Specialty
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 8am-4pm, 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:
- 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.
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.
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.
- 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:
- Jewish ancestry
- Sarcoma in a relative younger than age 45 years
- Glioma or childhood adrenal cortical carcinoma
If you are not sure whether to refer please contact us. A clinician is available to answer queries any time between Monday-Friday 8am-4pm, our telephone number is 02381 206170.
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
If you are not sure whether to refer please contact us. A clinician is available to answer queries any time between Monday-Friday 8am-4pm, our telephone number is 02381 206170.
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:
Portsmouth: Family histories of breast cancer are usually initially assessed by the breast family history clinic. Referrals should be made to: Breast Screening Unit, Queen Alexandra Hospital, Cosham, Portsmouth, PO6 3LY.
Salisbury: Family histories of breast cancer are usually initially assessed by the breast family history clinic. Referrals should be made to the specialist breast care nurse, Salisbury District Hospital, Salisbury, Wiltshire, SP2 8BJ.
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 the 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.
Winchester and Basingstoke: A family history of breast cancer is usually initially assessed by the breast family history clinic. Referrals should be made to: North and Mid Hants Breast Screening Unit, Florence Portal House, Royal Hampshire County Hospital, Romsey Road, Winchester, Hampshire, S022 5DG. The team will assess each referral and triage appropriately. High additional risk families will be sent on to the cancer genetic service.
Referral and enquiry forms:
