Linking uterine serous carcinoma to BRCA1/2-associated cancer syndrome: A meta-analysis and case report

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• 作者：M.M. de Jonge^a ; ¹ ; A.L. Mooyaart^a ; ¹ ; M.P.G. Vreeswijk^b ; C.D. de Kroon^c ; T. van Wezel^a ; C.J. van Asperen^d ; V.T.H.B.M. Smit^a ; O.M. Dekkers^e ; T. Bosse^a ; ^{t.bosse@lumc.nl}
• 关键词：Uterine serous carcinoma ; BRCA1 ; BRCA2 ; Germline mutation ; Meta-analysis
• 刊名：European Journal of Cancer
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：72
• 期：Complete
• 页码：215-225
• 全文大小：1068 K
• 卷排序：72

文摘

Germline BRCA1/2 mutations are more common in women with uterine serous carcinoma compared with the general population. The LOH and homologous recombination deficiency found in an USC of a BRCA1 germline carrier, support a causal relationship. Uterine serous carcinoma may be an overlooked component of BRCA1/2-associated hereditary breast and ovarian cancer syndrome. Screening for germline BRCA1/2 pathogenic mutations should be considered in women with uterine serous carcinoma.