Conference Proceedings
Mutational landscape of breast cancers from PALB2 germline mutation carriers
KA Burke, S Berman, FC Geyer, S Piscuoglio, CK Ng, YH Wen, A Mannermaa, P Peterlongo, C Tondini, M Janatova, T Soo Hwang, P-S Ng, LM Looi, G Chenevix-Trench, MC Southey, B Weigelt, W Foulkes, M Tischkowitz, JS Reis-Filho
CANCER RESEARCH | AMER ASSOC CANCER RESEARCH | Published : 2017
Abstract
Abstract Background: The PALB2 gene encodes the partner and localizer of the BRCA2 protein, which participates in homologous recombination during DNA repair via an interaction with BRCA1 and BRCA2. Germline mutations in PALB2 are associated with an increased risk of breast cancer, with a cumulative risk of 35% by age 70 in female PALB2 mutant carriers. The aims of this project were to characterize the genomic landscape of PALB2 breast cancers and define the differences in the repertoire of somatic genetic alterations and mutational signatures between PALB2, BRCA1 and BRCA2 breast cancers. Methods: Representative samples from fourteen breast cancers from patients..
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