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Evaluating the role of CHEK2 p.(Asp438Tyr) allele in inherited breast cancer predisposition

CHEK2 is a well-established breast cancer susceptibility gene. The most frequent pathogenic CHEK2 variant is 1100delC, a loss-of-function mutation conferring 2-fold risk for breast cancer. This gene also harbors other rare variants encountered in the clinical gene panels for hereditary cancer. One o...

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Detalles Bibliográficos
Autores principales:	Kumpula, Timo A., Koivuluoma, Susanna, Soikkonen, Leila, Vorimo, Sandra, Moilanen, Jukka, Winqvist, Robert, Mantere, Tuomo, Kuismin, Outi, Pylkäs, Katri
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Netherlands 2023
Materias:	Brief Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10276058/ https://www.ncbi.nlm.nih.gov/pubmed/36653541 http://dx.doi.org/10.1007/s10689-023-00327-2

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