Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes-Reference-Cited by-同舟云学术

Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes

Published:2018-07 Issue:1 Volume:103 Page:19-29
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Shirts Brian H.,Konnick Eric Q.,Upham Sarah,Walsh Tom,Ranola John Michael O.,Jacobson Angela L.,King Mary-Claire,Pearlman Rachel,Hampel Heather,Pritchard Colin C.

Funder

Damon Runyon Cancer Research Foundation

NHGRI

Fred Hutch/University of Washington Cancer Consortium

Ohio Colorectal Cancer Prevention Initiative

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference40 articles.

1. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet. Med.,2015

2. Differential DNA mismatch repair underlies mutation rate variation across the human genome;Supek;Nature,2015

3. The use of loss of constitutional heterozygosity data to ascertain the location of predisposing genes in cancer families;Teare;J. Med. Genet.,1994

4. Loss of the wild type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancer;Hemminki;Nat. Genet.,1994

5. Current Lynch syndrome tumor screening practices: a survey of genetic counselors;Cohen;J. Genet. Couns.,2014

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