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Evaluating the role of NTHL1 p.Q90* allele in inherited breast cancer predisposition

ABSTRACT Background Rare protein truncating variants of NTHL1 gene are causative for the recently described, recessively inherited NTHL1 tumor syndrome that is characterized by an increased lifetime risk for colorectal cancer, colorectal polyposis, and breast cancer. Although there is strong evidenc...

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Auteurs principaux: Timo Kumpula, Anna Tervasmäki, Tuomo Mantere, Susanna Koivuluoma, Laura Huilaja, Kaisa Tasanen, Robert Winqvist, Richarda M. deVoer, Katri Pylkäs
Format: Artigo
Langue:Inglês
Publié: Wiley 2020-11-01
Collection:Molecular Genetics & Genomic Medicine
Accès en ligne:https://doi.org/10.1002/mgg3.1493
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