Associated Papers
Genomic disparity impacts variant classification of cancer susceptibility genes in Turkish breast cancer patients.
Agaoglu NB et al.
Cancer Medicine, 2024
38308423 (PubMed )
Supplement: CAM4-13-e6852-s005.xlsx › Supp_Table_4
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
38287404 (PubMed )
Supplement: 40246_2024_573_MOESM3_ESM.xls › MLH1
Prevalence and spectrum of cancer predisposition germline mutations in young patients with the common late-onset cancers.
Hao S et al.
Cancer Medicine, 2023
37610374 (PubMed )
Supplement: CAM4-12-18394-s002.xlsx › Germline_variants
Penetrance of Gastric Adenocarcinoma Susceptibility Genes: A Systematic Review.
Hosseini S et al.
Annals of Surgical Oncology, 2023
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
34172528 (PubMed )
Supplement: jmedgenet-2021-107886supp006.xlsx › MLH1
Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.
Thompson BA et al.
Frontiers in Genetics, 2020
32849802 (PubMed )
Supplement: Data_Sheet_1.xlsx › Supplementary_Table_3
Whole-exome sequencing and RNA sequencing analyses of acinic cell carcinomas of the breast.
Beca F et al.
Histopathology, 2019
Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?
Moles-Fernández A et al.
Frontiers in Genetics, 2018
30233647 (PubMed )
Supplement: Table_1.XLSX › Supplem_Table_6
Japanese Society for Cancer of the Colon and Rectum (JSCCR) Guidelines 2016 for the Clinical Practice of Hereditary Colorectal Cancer (Translated Version).
Ishida H et al.
Journal of the Anus, Rectum and Colon, 2018
Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.
Sjursen W et al.
Molecular Genetics & Genomic Medicine, 2016
BRAFV600E immunohistochemistry facilitates universal screening of colorectal cancers for Lynch syndrome.
Toon CW et al.
The American Journal of Surgical Pathology, 2013
A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.
Thompson BA et al.
Human Mutation, 2013
Immunohistochemical testing of conventional adenomas for loss of expression of mismatch repair proteins in Lynch syndrome mutation carriers: a case series from the Australasian site of the colon cancer family registry.
Walsh MD et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2012
MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families.
Borràs E et al.
Cancer Research, 2010
Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.
Pagenstecher C et al.
Human Genetics, 2006
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