sábado, 10 de marzo de 2018

Risk management decisions in women with BRCA1 and BRCA2 mutations. - PubMed - NCBI

2018 Feb 13. pii: S0002-9610(17)31657-4. doi: 10.1016/j.amjsurg.2018.02.010. [Epub ahead of print]

Risk management decisions in women with BRCA1 and BRCA2 mutations.

Morgan R1, Brown A2, Hamman KJ3, Sampson J3, Naik A1, Massimino K4.

Author information

Abstract

INTRODUCTION:

Pathogenic mutations and variants of uncertain significance (VUS) occur in BRCA1/2 genes.

METHODS:

Records of women with a pathogenic mutation or VUS in BRCA1/2 treated between 2008 and 2017 were reviewed.

RESULTS:

One hundred and ten women were included. Mean age was 47. A pathogenic mutation or a VUS in BRCA1/2 was detected in 85 (77%) and 25 (23%) patients, respectively. The rate of risk reducing mastectomy (RRM) was 50% in women with a pathogenic mutation and 30% in women with a VUS (P = 0.232). Among women with breast cancer, 65% with a pathogenic mutation and 40% with a VUS underwent RRM. Over 50% of women with a pathogenic mutation in BRCA1/2 chose surveillance over operation.

DISCUSSION:

There was no statistical difference in the rate of RRM among women with a pathogenic mutation or a VUS in BRCA1/2 in our population. The majority of high risk women in our study chose to forgo RRM for breast cancer screening.