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BRCA2 germline mutation carrier with five malignancies: a case report.
Journal Paper/Review - Dec 19, 2024
Su Elena, Christinat Yann, McKee Thomas, Azzarello-Burri Silvia, Jochum Wolfram, Fischer Stefanie, Rothermundt Christian
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Brief description/objective
BRCA2 germline mutations are known to predispose carriers to various cancer types, including breast, ovarian, pancreatic and prostate cancer. An association with melanoma has also been reported. However, the full tumour spectrum associated with BRCA2 mutations, particularly in patients with other concurrent pathogenetic mutations, is unexplored.