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Breast cancer subtypes vary by gene, affecting risk prediction, screening strategies


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Journal
JAMA Oncology
Reuters Health - 02/02/2022 - Variants in nine major breast cancer susceptibility genes are associated with different tumor subtypes, researchers have found. The susceptibility genes are BRCA1, BRCA2, CHEK2, PALB2, ATM, BARD1, RAD51C, RAD51D and TP53. "Tumors arising in women harboring pathogenic variants in (these) genes were found to differ substantially in their tumor pathology profiles, although there were some similarities that could be traced to known biological functions of the genes," Dr. Nasim Mavaddat of the University of Cambridge told Reuters Health by email. "Risk variants in these genes were found to contribute disproportionately to more aggressive breast cancer, particularly among younger women," he said. "Together, the nine genes contributed to nearly a third of all triple-negative tumors in women aged 40 years or younger." As reported in JAMA Oncology, Dr. Mavaddat and colleagues analyzed data from close to 43,000 patients and matched ...


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