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Genetic testing and breast cancer

Although 15% of women with breast cancer have a family history of the disease, only 5% involve known gene mutations. These mutations include the ones called BRCA1 and BRCA2 which are linked with breast and ovarian cancer; 2% of all cases of breast cancer are associated with these mutations.
A Scottish company, Rosgen, has been granted a licence to use American technology for BRCA testing and you may see some publicity about this the service. Bearing in mind the low  number of cases due to these mutations, it is important for you to understand the facts.
The place of genetic testing is now clear and direct access to the service is not appropriate. In order to advise an unaffected close family member, the first step is to identify whether the mutation is present in the family member with the disease. Only then can the position be put in to perspective. The British Association of Surgical Oncology have developed guidelines defining the categories of risk for breast cancer in women with a family history.
(NHS Executive letter 26/1/00)

First degree relative is mother/sister/daughter
Second degree relative is granddaughter/grandmother/aunt/

Risk category

Criteria for risk level

 Recommendations
High risk
(more than 4 times average age related risk)
bullet4 or more relatives affected at any age by breast or ovarian cancer
bullet3 relatives with breast or ovarian cancer, with an average age at diagnosis of the breast cancer below age 60
bullet2 relatives affected by breast cancer with an average age at diagnosis below age 40
bulletOne relative with both breast and ovarian cancer at any age

 

 Referral to Regional Genetic Centre for specialist genetic counselling. Some of these patients may require genetic testing after the specialist assessment.
Moderate risk
(at least 3 times the average age related risk)
bulletOne first degree relative with breast cancer diagnosed under age 40
bullet2 first or second degree relatives with breast cancer diagnosed under age 60, or ovarian cancer at any age
bullet2 first or second degree relatives with breast or ovarian cancer diagnosed at any age
bulletOne first degree relative with bilateral breast cancer under age 60
bulletOne first degree male relative with breast cancer at any age
 There is no significant evidence to support intervention but referral into clinical studies can be considered. Genetic testing is NOT appropriate.
Low risk All women not falling into the categories above  Reassurance that the individual's risk is not significantly raised. Discuss the difference between familial and non-familial cancer.

Advice on breast awareness & self examination as risk of non-familial breast cancer remains.

Encourage participation in the National Breast Screening Programme at age 50.

Support groups
Breast Cancer Care: Includes support for women who think they have breast cancer 0808 800 6000
Breast Friends Helpline: Based at Good Hope Hospital, this helpline is manned by a trained volunteer who has had breast cancer. 0121 378 6203 Line open weekdays 11.30am to 1.30pm. On Wednesdays, there is an additional evening service 6.30pm to 8.30pm.

 
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