Therapy susceptible germline-related BRCA 1-mutation in a case of metastasized mixed adeno-neuroendocrine carcinoma (MANEC) of the small bowel

A. Quaas,D. Waldschmidt,H. Alakus,T. Zander,C. Heydt,T. Goeser, M. Daheim, P. Kasper,P. Plum, C. Bruns,A. Brunn,W. Roth, N. Hartmann, A. Bunck,M. Schmidt,H. Göbel, L. Tharun,R. Buettner,S. Merkelbach-Bruse

BMC Gastroenterology（2018）

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摘要

We present first evidence of a therapy susceptible germline-related BRCA1 mutation in small bowel adeno-neuroendocrine carcinoma (MANEC). Our findings offer a personalized treatment option. The germline background was unexpected in a 74-year old man with no previously known tumor burden. We should be aware of the familiar background in tumors of older patients as well.

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关键词

Small bowel mixed adeno-neuroendocrine carcinoma (MANEC), BRCA1 mutation, Germline-related, PARP-inhibition, Personalized treatment

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