BRCA1/2 mutation screening in FFPE samples to assist in the management of familial breast/ovarian cancer


The management of families at high risk of having an inherited BRCA1/2 mutation where there is no living affected relative and/or no DNA sample is available, may benefit from BRCA1/2 mutation testing of archive pathology material. The test has been designed to perform on DNA extracted from typical formalin fixed paraffin embedded (FFPE) tissue specimens. BRCA1/2 mutation screening of FFPE tissue can identify germline pathogenic BRCA1/2 mutations in deceased relatives and a negative result can also reduce the likelihood that a pathogenic BRCA1/2 mutation is present in the family.

Referral information

We require a minimum 5x5µM thick unstained sections preferably from a pathology specimen comprising normal (non-cancerous) tissue which must have been reviewed by a histopathologist clearly stating the proportion (if any) of neoplastic cells in the sample. The sample must be accompanied by a completed test request form. Referrals will be accepted from Clinical Geneticists or other appropriate health care professionals. Consent to obtain the material and undertake the testing must accompany the test request.

Price & reporting times

Test Price (NHS) Price (non-NHS) TRT
FFPE pathology tissue POA POA 56 cd

Test validation & quality assurance - information for users

The FFPE BRCA mutation screen has been validated in-house using DNA extracted from over 50 FFPE tissue samples, 26 of which were known to carry BRCA1/2 mutations or variants and in two multi-centre studies where in total >20 samples were tested blind. Analytical test sensitivity is >98%, analytical test specificity is >99%. Data is analysed using a custom bioinformatics pipeline developed in-house which is capable of detecting germline and somatic mutations present at a level of >4% mutant allele frequency in the sample submitted for testing. Poor preservation of DNA or low DNA yield may lead to analysis failure which occurs in <20% of samples analysed. This test is not intended to substitute for germline BRCA1/2 mutation screening as it is not designed to detect large deletions or duplications.

Sample requirements

5 x 5µM unstained, uncovered, mounted sections or unmounted sections from tissue block containing normal tissue only.

Referral guidelines

Please see our referral guidelines for more information.

OMIM Number(s) - 604370, 612555

Gene(s) - BRCA1, BRCA2