Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.Q158*
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MSH2

NM_000251.3:p.Q158*

Associated Papers

The genetic landscape of Lynch syndrome in the Israeli population.

Abu Shtaya A et al.

Familial Cancer, 2024

39546165 (PubMed )
Supplement: 10689_2024_432_MOESM1_ESM.xlsx › Sheet1

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

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_mutations

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

Large-scale meta-analysis of mutations identified in panels of breast/ovarian cancer-related genes - Providing evidence of cancer predisposition genes.

Suszynska M et al.

Gynecologic Oncology, 2019

Genetic features of Lynch syndrome in the Israeli population.

Goldberg Y et al.

Clinical Genetics, 2015

Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families.

Thodi G et al.

Bmc Cancer, 2010

hMSH2 is the most commonly mutated MMR gene in a cohort of Greek HNPCC patients.

Apessos A et al.

British Journal of Cancer, 2005

Inherited cancer predisposition syndromes in Greece.

Apessos A et al.

Anticancer Research, 0

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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."