Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.K1140fs
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MSH6

NM_000179.3:p.K1140fs

Associated Papers

Comprehensive molecular assessment of mismatch repair deficiency in Lynch associated ovarian cancers using next generation sequencing panel.

Kim SR et al.

International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society, 2024

Endometrial Carcinomas With Subclonal Loss of Mismatch Repair Proteins: A Clinicopathologic and Genomic Study.

Mendoza RP et al.

The American Journal of Surgical Pathology, 2023

Brief family history questionnaire to screen for Lynch syndrome in women with newly diagnosed non-serous, non-mucinous ovarian cancers.

Kim SR et al.

International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society, 2022

Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.

Frederiksen JH et al.

International Journal of Molecular Sciences, 2021

34445333 (PubMed )
Supplement: ijms-22-08627-s001.zip › ijms-1268836-supplementary.xlsx › RNA_splicing

Performance characteristics of screening strategies to identify Lynch syndrome in women with ovarian cancer.

Kim SR et al.

Cancer, 2020

Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.

Thompson BA et al.

Frontiers in Genetics, 2020

32849802 (PubMed )
Supplement: Data_Sheet_1.xlsx › Supplementary_Table_3

Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.

Bakry D et al.

European Journal of Cancer (oxford, England : 1990), 2014

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