Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.L1080delFs
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MSH6

NM_000179.3:p.L1080delFs

Associated Papers

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

Development and evaluation of INT2GRATE: a platform for comprehensive assessment of the role of germline variants informed by tumor signature profile in Lynch syndrome.

Isidro RA et al.

Frontiers in Oncology, 2023

Clinical Impact of Pathogenic Variants in DNA Damage Repair Genes beyond BRCA1 and BRCA2 in Breast and Ovarian Cancer Patients.

Espinel W et al.

Cancers, 2022

35626031 (PubMed )
Supplement: cancers-14-02426-s001.zip › cancers-1700686-supplementary.pdf

Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.

Southey MC et al.

Npj Breast Cancer, 2021

34887416 (PubMed )
Supplement: 41523_2021_360_MOESM1_ESM.pdf

Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Van Hout CV et al.

Nature, 2020

33087929 (PubMed )
Supplement: 41586_2020_2853_MOESM11_ESM.xlsx › Sheet1

High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.

González-Acosta M et al.

Journal of Medical Genetics, 2020

31494577 (PubMed )
Supplement: jmedgenet-2019-106272supp001.xlsx › Suppl_Table_S1

Clinical Challenges Associated with Universal Screening for Lynch Syndrome-Associated Endometrial Cancer.

Bruegl AS et al.

Cancer Prevention Research (philadelphia, Pa.), 2017

Consequences of universal MSI/IHC in screening ENDOMETRIAL cancer patients for Lynch syndrome.

Batte BA et al.

Gynecologic Oncology, 2014

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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."