Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.Y969delFs
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MSH6

NM_000179.3:p.Y969delFs

Associated Papers

Increased colorectal and endometrial cancer rates in a genomically ascertained Lynch syndrome cohort.

Hallquist MLG et al.

Jnci Cancer Spectrum, 2025

40498571 (PubMed )
Supplement: pkaf061_supplementary_data.xlsx › STable1_Individual_Case_Details

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

Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Mian A et al.

Bjui Compass, 2023

36816149 (PubMed )
Supplement: BCO2-4-156-s001.xlsx › sTable_1

Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.

Pearlman R et al.

Jco Precision Oncology, 2021

Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.

Lu HM et al.

Jama Oncology, 2019

Assessment of Tumor Sequencing as a Replacement for Lynch Syndrome Screening and Current Molecular Tests for Patients With Colorectal Cancer.

Hampel H et al.

Jama Oncology, 2018

A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.

Castellanos E et al.

Scientific Reports, 2017

28051113 (PubMed )
Supplement: srep39348-s1.pdf

Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

Yurgelun MB et al.

Gastroenterology, 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."