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Browsing by Author "Alvarez, Rocio"

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Large Cancer Pedigree Involving Multiple Cancer Genes including Likely Digenic MSH2 and MSH6 Lynch Syndrome (LS) and an Instance of Recombinational Rescue from LS

Vogelaar, Ingrid P.; Greer, Stephanie; Wang, Fan; Shin, Gi Won; Lau, Billy; Hu, Yajing; Haraldsdottir, Sigurdis; Alvarez, Rocio; Hazelett, Dennis; Nguyen, Peter; Aguirre, Francesca P.; Guindi, Maha; Hendifar, Andrew; Balcom, Jessica; Leininger, Anna; Fairbank, Beth; Ji, Hanlee; Hitchins, Megan P. (2023-01)

Lynch syndrome (LS), caused by heterozygous pathogenic variants affecting one of the mismatch repair (MMR) genes (MSH2, MLH1, MSH6, PMS2), confers moderate to high risks for colorectal, endometrial, and other cancers. We describe a four-generation, ...

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