Expanding the Phenotypic Spectrum of BRCA1-Associated HBOC: Gastric Cancer and a Salivary Gland Tumor in a Colombian Family

Abstract Objective This study aims to broaden the understanding of the BRCA1-associated Hereditary Breast and Ovarian Cancer (HBOC) syndrome by highlighting its link to non-traditional cancer types such as gastric and salivary gland tumors in a Colombian family. Case Presentation: We present the case of a 61-year-old woman with mucoepidermoid carcinoma of the salivary gland who underwent significant surgical treatment. The family history revealed a diverse cancer pattern, including gastric, breast, and colorectal cancers across four generations in the paternal lineage. Genetic testing confirmed a BRCA1: p.Gln1111Asnfs*5, diverging from the common breast or ovarian cancer manifestations of HBOC syndrome. Conclusion The study underscores the necessity of including gastrointestinal and salivary gland cancers in the spectrum of HBOC syndrome associated with BRCA1 variants. It advocates for extensive genetic counseling and testing for families displaying a broad range of cancer types. This contribution supports the diversification of associated cancer types with BRCA1 and encourages further research into precise therapies and management approaches for affected individuals.