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

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

Lynch syndrome (LS), caused by heterozygous pathogenic variants affecting one of the mismatch repair (MMR) genes (<i>MSH2</i>, <i>MLH1</i>, <i>MSH6</i>, <i>PMS2</i>), confers moderate to high risks for colorectal, endometrial, and other cancers. We des...

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Bibliographic Details
Main Authors: Ingrid P. Vogelaar, Stephanie Greer, Fan Wang, GiWon Shin, Billy Lau, Yajing Hu, Sigurdis Haraldsdottir, Rocio Alvarez, Dennis Hazelett, Peter Nguyen, Francesca P. Aguirre, Maha Guindi, Andrew Hendifar, Jessica Balcom, Anna Leininger, Beth Fairbank, Hanlee Ji, Megan P. Hitchins
Format: Article
Language:English
Published: MDPI AG 2022-12-01
Series:Cancers
Subjects:
Lynch syndrome
splice variants
multicancer gene panel test
Online Access:https://www.mdpi.com/2072-6694/15/1/228

Internet

https://www.mdpi.com/2072-6694/15/1/228

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