Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.H1248insFs
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MSH6

NM_000179.3:p.H1248insFs

Associated Papers

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

Diagnostic yield of multigene panel testing in an Israeli cohort: enrichment of low-penetrance variants.

Bernstein-Molho R et al.

Breast Cancer Research and Treatment, 2020

Retained mismatch repair protein expression occurs in approximately 6% of microsatellite instability-high cancers and is associated with missense mutations in mismatch repair genes.

Hechtman JF et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020

Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma.

Zhang L et al.

Human Mutation, 2020

Multigene panel testing in unselected Israeli breast cancer cases: mutational spectrum and use of BRCA1/2 mutation prediction algorithms.

Bernstein-Molho R et al.

Breast Cancer Research and Treatment, 2019

The rate of the recurrent MSH6 mutations in Ashkenazi Jewish breast cancer patients.

Bernstein-Molho R et al.

Cancer Causes & Control : Ccc, 2019

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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."