Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.L1330fs
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MSH6

NM_000179.3:p.L1330fs

Associated Papers

Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.

Yuen J et al.

European Journal of Human Genetics : Ejhg, 2025

39843919 (PubMed )
Supplement: 41431_2025_1785_MOESM5_ESM.pdf

Congenital Peribronchial Myofibroblastic Tumors Harbor a Recurrent EGFR Kinase Domain Duplication.

Younes S et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025

Clinical integration of germline findings from a tumor testing precision medicine program.

Sanabria-Salas MC et al.

Bmc Cancer, 2025

39885482 (PubMed )
Supplement: 12885_2025_13487_MOESM1_ESM.pdf

Sarcoma in patients with Lynch syndrome and response to immunotherapy.

Shehata MS et al.

Journal of Surgical Oncology, 2024

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

Clinical Testing for Mismatch Repair in Neoplasms Using Multiple Laboratory Methods.

Yang RK et al.

Cancers, 2022

36230473 (PubMed )
Supplement: cancers-14-04550-s001.zip › cancers-1836268-supplementary › SupplementaryDataYanget2022 › Table_S1._Case_Level_Data.xlsx › Sheet1

Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders.

Kagan M et al.

Frontiers in Genetics, 2022

Papillary Renal Cell Carcinoma in Lynch/Muir-Torre Syndrome with Germline Pathogenic Variant in MSH6 and Molecular Analysis: Report of a Case and Review of the Literature.

Yang Y et al.

Journal of Kidney Cancer and Vhl, 2021

Lynch Syndrome-Associated Variants and Cancer Rates in an Ancestrally Diverse Biobank.

Rosenblum RE et al.

Jco Precision Oncology, 2020

Patterns and functional implications of rare germline variants across 12 cancer types.

Lu C et al.

Nature Communications, 2015

26689913 (PubMed )
Supplement: ncomms10086-s11.xlsx › supplementary_data_10

Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome.

Ponti G et al.

Clinical Genetics, 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."