Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.Y1256*
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MSH6

NM_000179.3:p.Y1256*

Associated Papers

Clinical and molecular characteristics of constitutional mismatch repair deficiency syndrome: a case series of five children and appraisal of diagnostic guidelines.

Vazzano Goldstone J et al.

Diagnostic Pathology, 2026

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

Molecular profiling identifies targeted therapy opportunities in pediatric solid cancer.

Church AJ et al.

Nature Medicine, 2022

Double somatic mismatch repair gene pathogenic variants as common as Lynch syndrome among endometrial cancer patients.

Hampel H et al.

Gynecologic Oncology, 2021

Genetic features of Lynch syndrome in the Israeli population.

Goldberg Y et al.

Clinical Genetics, 2015

Comment on: Screening for Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) among Endometrial Cancer Patients.

Hampel H et al.

Cancer Research, 2007

Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients.

Hampel H et al.

Cancer Research, 2006

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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."