Research Topic

Hereditary Breast and Ovarian Cancer: Current Concepts of Prevention and Treatment

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About this Research Topic

Hereditary breast and ovarian cancer (HBOC) syndrome is the most common cause of inherited breast and ovarian cancers. Women with HBOC primarily have BRCA1 or BRCA2 mutations, although other less common mutations have also been identified. HBOC increases the risk of breast, ovarian/fallopian tube/primary ...

Hereditary breast and ovarian cancer (HBOC) syndrome is the most common cause of inherited breast and ovarian cancers. Women with HBOC primarily have BRCA1 or BRCA2 mutations, although other less common mutations have also been identified. HBOC increases the risk of breast, ovarian/fallopian tube/primary peritoneal and pancreatic cancers. The absolute risks in women with HBOC are 46-71% for breast cancer and 17-46% for ovarian cancer. Less than 1% of the general population has a mutation in the BRCA1 or BRCA2 gene in contrast to 5-10% of breast cancer patients and 10-15% ovarian cancer patients. Approximately 2.5% of women of Ashkenazi Jewish ancestry are born with a germline BRCA1 or BRCA2 gene mutation.

HBOC is typically suspected when ≥1 woman in the family is diagnosed before the age of 45; ≥1 woman in the family is diagnosed with breast cancer before the age of 50 with an additional family history of cancer (prostate or pancreatic cancer, melanoma); there is a history of breast and/or ovarian cancers in multiple generations on the same side of the family; there is a history of breast, ovarian and/or pancreatic cancer on the same side of the family; there is a history of breast and/or ovarian, pancreatic, or male breast cancer in a family of Ashkenazi Jewish ancestry; a woman is diagnosed with a second ipsilateral or contralateral breast cancer or with both breast and ovarian cancers; a male relative is diagnosed with breast cancer.

Following the discovery of the BRCA1 and BRCA2 genes and their link with HBOC, research has shown that screening programs, genetic testing and preventative measures can reduce mortality associated with HBOC by half, helping BRCA mutation carriers make informed decisions regarding the screening, prevention, and treatment of breast and ovarian cancer.

This Research Topic aims to present insights into HBOC including genetic testing, screening models, surgical and non-surgical prevention options as well as treatment modalities and their impact on patient outcomes. We welcome contributions focusing on but not limited to:

1) Hereditary breast and ovarian cancer: BRCA1/2 and beyond
2) Genetic testing for hereditary breast and ovarian cancer
3) Screening for hereditary breast and ovarian cancer
4) Surgical and non-surgical prevention of breast and ovarian cancer in BRCA mutation carriers
5) Surgical and systemic treatment of hereditary breast and ovarian cancer


Keywords: Breast, ovary, hereditary, prevention, treatment


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