Identification of a Pathogenic Germline Variant in the BRCA2 Gene in a Patient Diagnosed with Ductal Carcinoma in Situ (DCIS): A Case Report and Review of the Literature
Keywords:
Breast cancer, Germline mutation, BRCAAbstract
Advances in sequencing technology are rapidly progressing, leading to reduced costs and enhanced accessibility to genetic testing for cancers. Thailand, classified as a middle-income nation, integrates Universal Coverage of public health insurance to encompass germline genetic testing for breast cancer (BC) patients and their relatives who are at high risk of Hereditary Breast and Ovarian Cancer Syndrome (HBOC). In this study, we describe the case of a 48-year-old woman diagnosed with Ductal Carcinoma in Situ (DCIS) who underwent genetic testing, which revealed the presence of a pathogenic germline variant in the BRCA2 gene. The test was also conducted on three children. The findings indicate that two of three children carry pathogenic germline variants similar to those identified in their mother. The patient and their family members, who presented with both inherited and non-inherited BRCA2 germline mutations, underwent counseling sessions delivered by certified genetic counselors. Moreover, implementing cancer surveillance and risk reduction strategies for individuals with inherited BRCA2 germline mutations, encompassing BC, ovarian cancer, prostate cancer, pancreatic cancer, and malignant melanoma, offers significant advantages for this familial cohort.
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