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- Title
Evaluation of family history in individuals with heterozygous BRCA pathogenic variants diagnosed with breast or ovarian cancer in a single center in Italy.
- Authors
Negri, Serena; De Ponti, Elena; Sina, Federica Paola; Sala, Elena; Dell'Oro, Cristina; Roversi, Gaia; Lazzarin, Sara; Delle Marchette, Martina; Inzoli, Alesssandra; Toso, Claudia; Fumagalli, Simona; Campanella, Maria; Kotsopoulos, Joanne; Fruscio, Robert
- Abstract
Background: BRCA1 and BRCA2 gene mutations are responsible for 5% of breast cancer (BC) and 10–15% of ovarian cancer (EOC). The presence of a germline mutation and therefore the identification of subjects at high risk of developing cancer should ideally precede the onset of the disease, so that appropriate surveillance and risk‐reducing treatments can be proposed. In this study, we revisited the family history (FH) of women who tested positive for BRCA mutations after being diagnosed with BC or EOC. Methods: The National Comprehensive Cancer Network (NCCN) Clinical Practice Guidelines in Oncology (NCCN Guidelines®), and the Italian Association of Medical Oncology (AIOM) guidelines were applied to the FH of 157 women who were referred to San Gerardo Hospital for genetic counseling. Results: Almost 85% of women had an FH of BRCA‐related cancer. 63.7% and 52.2% of women could have undergone genetic testing according to NCCN and AIOM testing criteria (p <.05) before tumor diagnosis. An FH of EOC was the most frequent NCCN criterion, followed by BC diagnosed <45 years old. Sixty‐five percent of deceased women could have undergone genetic testing before developing cancer. Conclusions: FH is a powerful tool to identify high‐risk individuals eligible for genetic counseling and testing. Testing of healthy individuals should be considered when an appropriately affected family member is unavailable for testing.
- Subjects
ITALY; NATIONAL Comprehensive Cancer Network (U.S.); OVARIAN cancer; FAMILY history (Medicine); BRCA genes; GENETIC testing; BREAST cancer; BREAST; INDUCED ovulation; FERTILITY preservation; DEAD
- Publication
Molecular Genetics & Genomic Medicine, 2022, Vol 10, Issue 12, p1
- ISSN
2324-9269
- Publication type
Article
- DOI
10.1002/mgg3.2071