Rosemary Morgan1, Audrey Brown2, Kelly Jo Hamman3, Jone Sampson3, Arpana Naik1, Kristen Massimino4. 1. Oregon Health & Science University, Department of Surgery, Portland, OR, USA. 2. Oregon Health & Science University, School of Medicine, Portland, OR, USA. 3. Oregon Health & Science University, Department of Molecular and Medical Genetics, Portland, OR, USA. 4. Providence Cancer Institute, Portland, OR, USA. Electronic address: kristen.massimino@providence.org.
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.
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.