Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.Y977*
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MSH6

NM_000179.3:p.Y977*

Associated Papers

Putative multiple myeloma susceptibility genes identified by exome sequencing of 347 familial and early-onset cases.

Pertesi M et al.

Leukemia, 2026

41254116 (PubMed )
Supplement: 41375_2025_2802_MOESM1_ESM.pdf

Phase separation as a possible mechanism for dosage sensitivity.

Yang L et al.

Genome Biology, 2024

38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD-escaping_mutations

Mutation-specific Mismatch Repair-deficient Benign Endometrial Glands in Endometrial Biopsies and Curettings Are a Biomarker of Lynch Syndrome and Associate With Endometrial Carcinoma Development.

Hegazy S et al.

The American Journal of Surgical Pathology, 2023

Variants of DNA mismatch repair genes derived from 33,998 Chinese individuals with and without cancer reveal their highly ethnic-specific nature.

Zhang L et al.

European Journal of Cancer (oxford, England : 1990), 2020

Mutation spectrum of germline cancer susceptibility genes among unselected Chinese colorectal cancer patients.

Gong R et al.

Cancer Management and Research, 2019

Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

DeRycke MS et al.

Molecular Genetics & Genomic Medicine, 2017

28944238 (PubMed )
Supplement: MGG3-5-553-s002.xlsx › ST1

Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.

Lagerstedt-Robinson K et al.

Oncology Reports, 2016

The gynecological surveillance of women with Lynch syndrome in Sweden.

Tzortzatos G et al.

Gynecologic Oncology, 2015

Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population.

Castellsagué E et al.

Clinical Genetics, 2015

Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome.

Ponti G et al.

Clinical Genetics, 2015

Comprehensive screening for mutations associated with colorectal cancer in unselected cases reveals penetrant and nonpenetrant mutations.

Kraus C et al.

International Journal of Cancer, 2015

Cancer risks and immunohistochemical profiles linked to the Danish MLH1 Lynch syndrome founder mutation.

Therkildsen C et al.

Familial Cancer, 2012

Two Swedish founder MSH6 mutations, one nonsense and one missense, conferring high cumulative risk of Lynch syndrome.

Cederquist K et al.

Clinical Genetics, 2005

Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden.

Cederquist K et al.

International Journal of Cancer, 2004

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