Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.R359Splc
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MSH2

NM_000251.3:p.R359Splc

Associated Papers

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 › MSH2

Comparison of immediate germline sequencing and multi-step screening for Lynch syndrome detection in high-risk endometrial and colorectal cancer patients.

Chao AS et al.

Journal of Gynecologic Oncology, 2024

Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

White JA et al.

Cancer Research Communications, 2022

36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST1_Known_Germline_Variants

Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.

Bhai P et al.

Frontiers in Genetics, 2021

34326862 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_files › Supplementary_Table_S4.xlsx › Every_test

DNA mismatch repair deficiency and hereditary syndromes in Latino patients with colorectal cancer.

Ricker CN et al.

Cancer, 2017

Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.

Sjursen W et al.

Molecular Genetics & Genomic Medicine, 2016

Different splicing defects lead to differential effects downstream of the lipid and protein phosphatase activities of PTEN.

Agrawal S et al.

Human Molecular Genetics, 2005

Identification of predictive factors for the occurrence of predisposing MLH1 and MSH2 germline mutations among Sardinian patients with colorectal carcinoma.

Colombino M et al.

European Journal of Cancer (oxford, England : 1990), 2005

Spectrum of germ-line MLH1 and MSH2 mutations in Austrian patients with hereditary nonpolyposis colorectal cancer.

Wolf B et al.

Wiener Klinische Wochenschrift, 2005

Microsatellite instability and mutation analysis among southern Italian patients with colorectal carcinoma: detection of different alterations accounting for MLH1 and MSH2 inactivation in familial cases.

Colombino M et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2003

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."