Absence of loss of heterozygosity of BRCA1 in a renal tumor from a BRCA1 germline mutation carrier

BRCA1 种系突变携带者的肾肿瘤中未发生 BRCA1 杂合性缺失

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作者:Shaheen Alanee, Sohela Shah, Rajmohan Murali, Rohini Rau-Murthy, Kasmintan A Schrader, Kenneth Offit

Abstract

BRCA1 functions as a tumor suppressor gene and germline and somatic mutations in this gene have been shown to be associated with many types of cancer. We report the first tumor study of renal cell carcinoma in a carrier of the deleterious BRCA1 mutation-c.68_69delAG.

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