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

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 evidence for br...

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Detalles Bibliográficos
Autores principales: Kumpula, Timo, Tervasmäki, Anna, Mantere, Tuomo, Koivuluoma, Susanna, Huilaja, Laura, Tasanen, Kaisa, Winqvist, Robert, de Voer, Richarda M., Pylkäs, Katri
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667375/
https://www.ncbi.nlm.nih.gov/pubmed/32949222
http://dx.doi.org/10.1002/mgg3.1493