Study confirms BRCA1 and BRCA2 is linked to seven cancers
"The results suggest the range of cancer types associated with pathogenic variants in BRCA1 and BRCA2 is likely broader than that determined from previous analysis of largely European ancestry cohorts," wrote authors who were led by Yukihide Momozawa, DVM, PhD, RIKEN Center for Integrative Medical Sciences, Japan.
"These risk association findings, together with our analysis of an association with family history of cancer and clinical phenotypes, are relevant for developing and adapting guidelines about genetic testing, treatment options, and treatability with PARP [polyMomozawa and associates conducted a large-scale sequencing study across 14 common cancer types in 63,828 patients and 37,086 controls on data drawn from a Japanese nationwide biobank between April 2003 and March 2018.
Three hundred fifteen pathogenic variants were identified. An odds ratios of greater than 4.0 for the pathogenic variants were found for biliary tract cancer in BRCA1, esophageal cancer in BRCA2, and gastric cancer in BRCA1, and in BRCA2. Two other cancer types were found to be associated with BRCA1, and four other cancer types with BRCA2.
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