Cancer genetics referrals

When a cancer genetics referral is received, it is seen by a senior clinical staff member. Urgent referrals are given an appointment directly – this may be in a telephone clinic in the first instance.

With most referrals, the patient is sent a family history questionnaire to fill in (with as much information as is practical) and return to the department before their first consultation. The information from the questionnaire is used to draw the family tree. By having as much information available as feasible before the consultation, the discussion can focus on risk assessment, genetic testing (and whether it is an option), choices for cancer risk management and the patient’s concerns.

Patients who have difficulty with the questionnaire are welcome to contact the Cancer Genetics Unit for assistance to ensure their access to the service.

For referrals please write or fax to:

Cancer Genetics Clinical Team
The Royal Marsden
Orchard House
Downs Road
Sutton
Surrey SM2 5PT

Fax: 020 8770 1489

Referral guidelines

The following family histories are suggestive of an inherited cancer predisposition and would be appropriate for referral. This list is a guide only, and is not comprehensive.

The pattern of cancer should be in blood relatives through either the maternal or the paternal side. In general, but not always, when undertaking genetic testing after counselling, a living relative affected by cancer is tested prior to offering testing to unaffected family members. This maximizes the likelihood of finding the family gene mutation (genetic error) if one exists.

Relatives

First degree: mother, sister, daughter, etc
Second degree: grandmother, aunt, half siblings, etc
Third degree: great grandmother, first cousin, etc

Breast / ovarian cancer families

All families with four or more breast cancers
Families with three breast cancers if two are diagnosed at less than 55 years old or one at under 35 years old
Some families with two younger-onset breast cancers
Breast / ovarian families with two or more cases
Male breast cancer families with at least one additional breast cancer diagnosed at less than 50 years old, or two at under 60 years old
Families in whom a BRCA1 or BRCA2 gene mutation has been identified

The criteria for referral are less for Ashkenazi Jewish women. Any woman of definite Ashkenazi ancestry who is concerned about her breast or ovarian cancer risk can be referred for evaluation.

For family histories that are not covered by the criteria above, refer to the full referral categories which are available in the NICE (2004) guidelines or at www.icr.ac.uk/protocols.

Women who are at moderate breast risk (who do not fit criteria for referral to genetics) would still be eligible for referral to the Breast Unit Family History Clinic for breast screening.

Colon cancer families

One first-degree relative under the age of 50 affected with bowel cancer
Two (or more) close relatives affected with bowel cancer at any age (one must be a first-degree relative)
A close relative with multiple adenomatous polyps (ten or more)
Anyone with a diagnosis of or family history of a high-risk susceptibility condition such as familial adenomatous polyposis (FAP, also known as polyposis coli) or Lynch syndrome (also known as hereditary non-polyposis colorectal cancer (HNPCC)).

Prostate cancer families

Any family with two cases of prostate cancer where one is diagnosed at less than 65 years old
Families with three or more cases of prostate cancer at any age

Families with childhood cancers

Any family with a case of childhood cancer plus two other close relatives with cancer

Other families

Any other families with an unusual pattern of cancer in the family or rare syndromes