Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.Q215_I216Splc
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MSH2

NM_000251.3:p.Q215_I216Splc

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

Comprehensive RNA and protein functional assessments contribute to the clinical interpretation of MSH2 variants causing in-frame splicing alterations.

Meulemans L et al.

Journal of Medical Genetics, 2023

Occurrence of variants of unknown clinical significance in genetic testing for hereditary breast and ovarian cancer syndrome and Lynch syndrome: a literature review and analytical observational retrospective cohort study.

Adam F et al.

Bmc Medical Genomics, 2023

36647026 (PubMed )
Supplement: 12920_2023_1437_MOESM2_ESM.xlsx › all_cases

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

Comprehensive characterization of CRC with germline mutations reveals a distinct somatic mutational landscape and elevated cancer risk in the Chinese population.

Yao J et al.

Cancer Biology & Medicine, 2022

MSH2 Loss in Primary Prostate Cancer.

Guedes LB et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

Germ-line variants identified by next generation sequencing in a panel of estrogen and cancer associated genes correlate with poor clinical outcome in Lynch syndrome patients.

Jóri B et al.

Oncotarget, 2015

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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."