Familial Breast Cancer

Introduction

Mutations in the germ-line of predisposition genes account for approximately 5-10% of women affected with breast cancer. Two genes BRCA1 and 2 account for the majority of familial cases.

Referral information

We accept referrals for mutation scanning in BRCA1 and BRCA2 from patients affected by and with a family history of breast cancer. Patients must have been seen by a Clinical Geneticist and must meet the criteria for genetic testing indicated in the guidelines issued by NICE. Screening for three common mutations in the Ashkenazi Jewish population and in the Polish population can also be offered if appropriate. If a mutation has been identified in the family, predictive/confirmatory testing can be offered to at-risk family members.

Price & reporting times

NHS referrals to this service are paid for where there is an existing specialist commissioning contract for genetic testing. In other cases please contact the lab for prices.

Test Price (NHS and non-NHS) TRT (calendar days)
BRCA1 and BRCA2 full screen POA 56
Single mutation test POA 14
Ashkenazi/Polish 3 common mutations POA 28

Test validation & quality assurance - information for users

Amongst patients at >20% prior risk of carrying a predisposition mutation as assessed by family history. The overall pathological mutation detection rate is approximately 17%. The technical sensitivity is 95%.

Sample requirements

4ml EDTA blood sample

Referral guidelines

Please see our referral guidelines for more information.

OMIM Number(s) - 114480

Gene(s) - BRCA1, BRCA2

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