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Highly Accessed Open Badges Editorial

Is breast cancer a part of Lynch syndrome?

James M Ford

Author Affiliations

Department of Medicine (Oncology), Stanford University School of Medicine, Room 1115, CCSR Building, 269 Campus Drive, Stanford, CA 94305-5151, USA

Breast Cancer Research 2012, 14:110  doi:10.1186/bcr3241

See related research by Lotsari et al.,

Published: 22 August 2012


A long-standing question is whether breast cancer is an integral part of Lynch syndrome, also known as hereditary non-polyposis colorectal cancer. A recent study by Lotsari and colleagues analyzes molecular features of breast cancers from families with Lynch syndrome, including germline mutation carriers and their non-mutation carrier siblings, and controls with sporadic breast cancer. The study finds microsatellite instability and loss of mismatch DNA repair protein expression in one third and two thirds of Lynch syndrome samples, respectively, but in none of the non-mutation carriers or controls. Overall, the age of diagnosis of breast cancer in Lynch syndrome mutation carriers is no different than that in non-carriers, but diagnosis age was lower in those carriers whose breast tumors exhibited defects in mismatch repair. These results have important implications for genetic counseling and genetic testing of families with breast cancer and other tumors associated with Lynch syndrome, such as colorectal and endometrial cancers.