Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.Y1159*
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MSH6

NM_000179.3:p.Y1159*

Associated Papers

Smart Nonuniformity for Calibrating Sequencing Depth of a Targeted Gene Panel to Simultaneously Detect Somatic and Germline Variants.

O'Reilly RL et al.

The Journal of Molecular Diagnostics : Jmd, 2025

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

Risk of lymphoid malignancy associated with cancer predisposition genes.

Boddicker NJ et al.

Blood Cancer Journal, 2025

40253392 (PubMed )
Supplement: 41408_2025_1283_MOESM1_ESM.xlsx › Table_S15

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

Molecular underpinnings of dedifferentiation and aggressiveness in chromophobe renal cell carcinoma.

Kapur P et al.

Jci Insight, 2024

38775158 (PubMed )
Supplement: jciinsight-9-176743-s288.xlsx › Table_S5

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table1.XLSX › Sheet1

Pathogenic germline variants in BRCA1 and TP53 increase lung cancer risk in Chinese.

Wei B et al.

Cancer Medicine, 2023

37930190 (PubMed )
Supplement: CAM4-12-21219-s002.xls › Supplementary_Table_4

Prevalence and genetic spectrum associated with hereditary colorectal cancer syndromes, the need to improve cancer risk awareness, and family cascade testing in Vietnam.

Nguyen HT et al.

Familial Cancer, 2023

Hereditary cancer predispositions: Comparison of multigene panel sequencing on fresh-frozen breast/ovarian tumor versus blood.

Schwartz M et al.

Clinical Genetics, 2023

Clinical Impact of a Rapid Genetic Testing Model for Advanced Prostate Cancer Patients.

Breen KE et al.

The Journal of Urology, 2023

Validation and Clinical Application of ONCOaccuPanel for Targeted Next-Generation Sequencing of Solid Tumors.

Kim M et al.

Cancer Research and Treatment, 2023

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Qin Z et al.

Life Science Alliance, 2022

35595529 (PubMed )
Supplement: LSA-2021-01319_TableS1.xlsx › Sheet_1

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 › ST3_Known_Somatic_Variants

TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.

Lesueur F et al.

Cancers, 2021

34359559 (PubMed )
Supplement: cancers-13-03659-s001.zip › cancers-1273124-supplementary.pdf

Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers.

Choi YY et al.

Scientific Reports, 2021

Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.

Ferrer-Avargues R et al.

Cancer Communications (london, England), 2021

33630411 (PubMed )
Supplement: CAC2-41-218-s001.xlsx › Table_S1_

Pathogenic Variant Profile of Hereditary Cancer Syndromes in a Vietnamese Cohort.

Tran VT et al.

Frontiers in Oncology, 2021

Cancer Susceptibility Genetic Testing in a High-Risk Cohort of Urban Ashkenazi Jewish Individuals.

Nielsen SM et al.

Journal of Genetic Counseling, 2018

Genetic Testing for Hereditary Nonpolyposis Colorectal Cancer (HNPCC).

Nallamilli BRR et al.

Current Protocols in Human Genetics, 2017

Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.

Chubb D et al.

Nature Communications, 2016

27329137 (PubMed )
Supplement: ncomms11883-s1.pdf

Screening for germline mutations in breast/ovarian cancer susceptibility genes in high-risk families in Israel.

Yablonski-Peretz T et al.

Breast Cancer Research and Treatment, 2016

Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer.

Pérez-Carbonell L et al.

Gut, 2012

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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."