Article
Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity.
Pediatric blood & cancer - 1 Mar 2016
Baris Hagit N, Barnes-Kedar Inbal, Toledano Helen, Halpern Marisa, Hershkovitz Dov, Lossos Alexander, Lerer Israela, Peretz Tamar, Kariv Revital, Cohen Shlomi, Half Elizabeth E, Magal Nurit, Drasinover Valerie, Wimmer Katharina, Goldberg Yael, Bercovich Dani, Levi Zohar
Abstract excerpt
BACKGROUND: Heterozygous germline mutations in any of the mismatch repair (MMR) genes, MLH1, MSH2, MSH6, and PMS2, cause Lynch syndrome (LS), an autosomal dominant cancer predisposition syndrome conferring a high risk of colorectal, endometrial, and other cancers in adulthood. Offspring of couples where both spouses have LS have a 1:4 risk of inheriting biallelic MMR gene mutations. These cause constitutional MMR...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.