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First evidence of a large CHEK2 duplication involved in cancer predisposition in an Italian family with hereditary breast cancer

BACKGROUND: CHEK2 is a multi-cancer susceptibility gene whose common germline mutations are known to contribute to the risk of developing breast and prostate cancer. CASE PRESENTATION: Here, we describe an Italian family with a high number of cases of breast cancer and other types of tumour subjecte...

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Detalles Bibliográficos
Autores principales: Tedaldi, Gianluca, Danesi, Rita, Zampiga, Valentina, Tebaldi, Michela, Bedei, Lucia, Zoli, Wainer, Amadori, Dino, Falcini, Fabio, Calistri, Daniele
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4091954/
https://www.ncbi.nlm.nih.gov/pubmed/24986639
http://dx.doi.org/10.1186/1471-2407-14-478