Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.P1087insFs
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MSH6

NM_000179.3:p.P1087insFs

Associated Papers

A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.

Méndez-Vidal C et al.

Journal of Translational Medicine, 2025

39833864 (PubMed )
Supplement: 12967_2025_6069_MOESM3_ESM.xlsx › Validation_cases

Analysis of Concordance Between Next-Generation Sequencing Assessment of Microsatellite Instability and Immunohistochemistry-Mismatch Repair From Solid Tumors.

Ali-Fehmi R et al.

Jco Precision Oncology, 2024

Intratumor heterogeneity in colorectal cancer: Distribution of tumor suppressor gene variants with regard to patient lymph node status.

Wątor G et al.

Clinical Genetics, 2023

37339860 (PubMed )
Supplement: supplement_1.doc

Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.

Kondrashova O et al.

Cancers, 2021

33917078 (PubMed )
Supplement: cancers-13-01762-s001.zip › Kondrashova_etal_Supp_Tables.xlsx › Table_S5

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

MSH6 immunohistochemical heterogeneity in colorectal cancer: comparative sequencing from different tumor areas.

Chen W et al.

Human Pathology, 2020

Heterogenous loss of mismatch repair (MMR) protein expression: a challenge for immunohistochemical interpretation and microsatellite instability (MSI) evaluation.

McCarthy AJ et al.

The Journal of Pathology. Clinical Research, 2019

Characterizing Mutational Signatures in Human Cancer Cell Lines Reveals Episodic APOBEC Mutagenesis.

Petljak M et al.

Cell, 2019

30849372 (PubMed )
Supplement: mmc4.xlsx › Coding_mutations

Paclitaxel is necessary for improved survival in epithelial ovarian cancers with homologous recombination gene mutations.

Jean S et al.

Oncotarget, 2016

27191893 (PubMed )
Supplement: oncotarget-07-48577-s002.xlsx › Sheet1

Comparative genomic analysis of primary tumors and metastases in breast cancer.

Bertucci F et al.

Oncotarget, 2016

27028851 (PubMed )
Supplement: oncotarget-07-27208-s001.pdf

Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations.

Haraldsdottir S et al.

Gastroenterology, 2014

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