Targeted sequencing of BRCA1/BRCA2 across a large unselected breast cancer cohort suggests one third of mutations are somatic (Sweden)

full.pdf
 May 18, 2016

      For relapsed ovarian cancer, the PARP inhibitor olaparib has recently

been approved in Europe for use in patients with BRCA1/2 mutations – regardless of the mutations being germline or somatic [15, 16]. Ongoing trials will determine if this will be the case also for breast cancer patients [17].

 Conclusions In a population without strong germline founder mutations, the likelihood of a BRCA1/2 mutation found in a breast carcinoma being somatic was approximately 1/3, and germline 2/3. This may have implications for treatment and genetic counseling.