Risk management decisions in women with BRCA1 and BRCA2 mutations
| Autor: | Kristen P. Massimino, Arpana Naik, Kelly Hamman, Rosemary E. Morgan, Jone E. Sampson, Audrey Brown |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Oncology Adult medicine.medical_specialty Risk reducing mastectomy Adolescent Population Decision Making Statistical difference Breast Neoplasms 03 medical and health sciences Breast cancer screening 0302 clinical medicine Breast cancer Internal medicine medicine Humans Genetic Testing skin and connective tissue diseases education Watchful Waiting Uncertain significance Mastectomy Genetic testing Aged BRCA2 Protein education.field_of_study Risk Management medicine.diagnostic_test business.industry Pathogenic mutation BRCA1 Protein General Medicine Middle Aged medicine.disease 030104 developmental biology 030220 oncology & carcinogenesis Mutation Surgery Female business Risk Reduction Behavior |
| Zdroj: | American journal of surgery. 215(5) |
| ISSN: | 1879-1883 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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