The BRCA2 c.68‐7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity
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DOI: 10.1002/humu.23411
Abstract: Although the spliceogenic nature of the BRCA2 c.68‐7T > A variant has been demonstrated, its association with cancer risk remains controversial. In this study, we accurately quantified by real‐time PCR and digital PCR (dPCR), the… read more here.
Keywords: cancer risk; brca2 variant; brca2; variant ... See more keywords
Exceptional Response of Pancreatic Acinar Cell Carcinoma and Bile Duct Cancer to Platinum-Based Chemotherapy in a Family With a Germline BRCA2 Variant.
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DOI: 10.1097/mpa.0000000000002150
Abstract: ABSTRACT Pancreatic cancer and its rare subtype, acinar cell carcinoma (PACC), frequently harbor germline and/or somatic variants in homologous recombinant genes, including BRCA2. Individuals possessing germline pathogenic BRCA2 variants are known to have a higher… read more here.
Keywords: germline; brca2; brca2 variant; acinar cell ... See more keywords