Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.K179R
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PMS2

NM_000535.7:p.K179R

Associated Papers

Genetic characterization of Lynch syndrome germline variants in a LATAM cohort using a customized NGS gene panel.

Mathó C et al.

Frontiers in Oncology, 2025

40823072 (PubMed )
Supplement: DataSheet1.xlsx › Supplementary_table_2_

Hereditary Breast Cancer in Romania-Molecular Particularities and Genetic Counseling Challenges in an Eastern European Country.

Cătană A et al.

Biomedicines, 2023

Discordance between germline genetic findings and abnormal tumor immunohistochemistry staining of mismatch repair proteins in individuals with suspected Lynch syndrome.

Pan S et al.

Frontiers in Oncology, 2023

36793599 (PubMed )
Supplement: DataSheet_1.pdf

Real-World Evaluation of a Population Germline Genetic Screening Initiative for Family Medicine Patients.

Hutchcraft ML et al.

Journal of Personalized Medicine, 2022

TP53 mutations determined by targeted NGS in breast cancer: a case-control study.

Andrikopoulou A et al.

Oncotarget, 2021

Actionable genomic variants in 6045 participants from the Qatar Genome Program.

Elfatih A et al.

Human Mutation, 2021

The Mutational Landscape of Early-Onset Breast Cancer: A Next-Generation Sequencing Analysis.

Andrikopoulou A et al.

Frontiers in Oncology, 2021

Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.

da Costa E Silva Carvalho S et al.

Bmc Medical Genomics, 2020

Abstracts of the 4th meeting of the European Hereditary Tumour Group, Barcelona, Spain, October 17-19th, 2019.

Unknown Author

Familial Cancer, 2020

Characteristics of MUTYH variants in Japanese colorectal polyposis patients.

Takao M et al.

International Journal of Clinical Oncology, 2018

Molecular approach to genetic and epigenetic pathogenesis of early-onset colorectal cancer.

Tezcan G et al.

World Journal of Gastrointestinal Oncology, 2016

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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."