RT Journal Article
SR Electronic
T1 Germline <em>BRCA1</em> and <em>BRCA2</em> testing for breast cancer survivors
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 528
OP 530
DO 10.1136/jmedgenet-2019-106420
VO 57
IS 8
A1 Jennifer Wiggins
A1 Anne McLoughlin
A1 Angela George
A1 Alistair Ring
A1 Zoe Kemp
YR 2020
UL http://jmg.bmj.com/content/57/8/528.abstract
AB Background For patients with early breast cancer, knowledge of germline BRCA1/2 status increasingly influences management as well as informing future cancer risk for patients and their families. As access to germline testing expands, it is important that this benefit is extended to survivors as well as to the newly diagnosed. Methods In collaboration with our breast unit colleagues and by embedding a Senior Genetic Counsellor in the virtual multidisciplinary meeting, we identified patients suitable for genetics review 5 years after their breast cancer diagnosis. Results Between May 2015 and December 2018, 2044 patients were discussed, of whom 769 patients were identified for notes review by Genetics. Of these, 275 had already undergone testing and 47 had confirmed germline pathogenic variants in BRCA1/2. A further 463 were recommended for referral. One hundred and eighty patients were subsequently offered testing with 161 accepting (161/180, 89%). Nine patients were found to harbour pathogenic variants in either BRCA1 or BRCA2 (9/161, 6%). Of the initial 2044 patients reviewed, 2.7% (56/2044) are now known to carry germline pathogenic variants. Conclusion The survivorship setting provides an opportunity for genetic review underpinned by collaborative working between cancer specialists and the genetics team.