Whole-Genome Sequencing Identifies PPARGC1A as a Putative Modifier of Cancer Risk in BRCA1/2 Mutation Carriers

• Published in: Cancers Vol. 14; no. 10; p. 2350
• Main Authors: Zhu, Qianqian, Wang, Jie, Yu, Han, Hu, Qiang, Bateman, Nicholas W, Long, Mark, Rosario, Spencer, Schultz, Emily, Dalgard, Clifton L, Wilkerson, Matthew D, Sukumar, Gauthaman, Huang, Ruea-Yea, Kaur, Jasmine, Lele, Shashikant B, Zsiros, Emese, Villella, Jeannine, Lugade, Amit, Moysich, Kirsten, Conrads, Thomas P, Maxwell, George L, Odunsi, Kunle
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 10.05.2022; MDPI
• Subjects: BRCA modifier; BRCA1 protein; BRCA2 protein; Breast cancer; cancer susceptibility gene; Evolution; Family medical history; Genetic factors; Genomes; Mitochondria; Mutation; Ovarian cancer; Whole genome sequencing; breast cancer; BRCA modifier; cancer susceptibility gene; ovarian cancer; whole-genome sequencing

While and mutations are known to confer the largest risk of breast cancer and ovarian cancer, the incomplete penetrance of the mutations and the substantial variability in age at cancer onset among carriers suggest additional factors modifying the risk of cancer in mutation carriers. To identify gen...