Germline mutations in which of the following genes is not associated with hereditary breast cancer?
Correct Answer: GATA2
Description: Mutations in BRCA1 and BRCA2 are responsible for 80% to 90% of single gene familial breast cancers and about 3% to 6% of all breast cancers. BRCA1-associated breast cancers are commonly poorly differentiated, often have characteristic morphologic features, and usually fall in the TNBC subgroup. BRCA2-associated breast carcinomas also tend to be poorly differentiated, but are more often ER-positive than BRCA1 cancers. Other tumor suppressor genes associated with germline mutations that convey a high risk for breast cancer: TP53, PTEN, STK11, CDH1, PALPB2 (high penetrance) ATM, CHEK2 (moderate penetrance) Germline GATA2 mutations predisposes to development of myeloid neoplasms. Germline GATA2 gene mutations were originally identified as four separate syndromes: MonoMAC syndrome, characterized by monocytopenia and non-tuberculous mycobacterial infection Dendritic cell, monocyte, B- and NK-lymphoid (DCML) deficiency with vulnerability to viral infections Familial myelodysplastic syndrome (MDS)/acute myeloid leukemia (AML) Emberger syndrome, characterized by primary lymphoedema, was and a predisposition to MDS/AML
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Pathology
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