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

Alexander QuaasD WaldschmidtH AlakusT ZanderC HeydtT GoeserM DaheimP KasperP PlumC BrunsA BrunnW RothN HartmannA BunckM SchmidtH GöbelL TharunR BuettnerS Merkelbach-Bruse

Published in: BMC gastroenterology (2018)

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.

Keyphrases

small bowel
dna repair
gene therapy
risk factors
oxidative stress
mesenchymal stem cells
replacement therapy
smoking cessation