Article
Combined tumor genomic profiling and exome sequencing in a breast cancer family implicates ATM in tumorigenesis: A proof of principle study.
Genes, chromosomes & cancer - 1 Nov 2017
Bubien Virginie, Bonnet Françoise, Dupiot-Chiron Jennifer, Barouk-Simonet Emmanuelle, Jones Natalie, de Reynies Aurélien, MacGrogan Gaëtan, Sevenet Nicolas, Letouzé Eric, Longy Michel
Abstract excerpt
Familial breast cancers (BCs) account for 10%-20% of all diagnosed BCs, yet only 20% of such tumors arise in the context of a germline mutation in known tumor suppressor genes such as BRCA1 or BRCA2. The vast genetic heterogeneity which characterizes non BRCA1 and non BRCA2 (or BRCAx) families makes grouped studies impossible to perform. Next generation sequencing techniques, however, allow individual families to...
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