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Comment & Response
January 2019

Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6

Author Affiliations
  • 1Cancer Genetics and Prevention Program, Helen Diller Comprehensive Cancer Center, University of California San Francisco, San Francisco
  • 2Color Genomics, San Francisco, California
  • 3Invitae Corporation, San Francisco, California
JAMA Oncol. 2019;5(1):120-121. doi:10.1001/jamaoncol.2018.6911

To the Editor In “Association of Breast and Ovarian Cancers with Predisposition Genes Identified by Large-Scale Sequencing,” Lu et al1 describe an association between invasive lobular breast cancer and mutations in the mismatch repair gene MSH6. The purported association is driven primarily by the increased frequency of 1 particular pathogenic variant, a single base deletion c.2945delC, compared with its frequency in 3988 in-laboratory controls referred for nononcological indications (OR, 4.23; 95% CI, 1.39-11.97). We believe this association is incorrect, caused by a sequencing artifact in the authors’ data sets.

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