Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.V302_R304delFs
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PMS2

NM_000535.7:p.V302_R304delFs

Associated Papers

Unraveling mutagenic processes influencing the tumor mutational patterns of individuals with constitutional mismatch repair deficiency.

Weijers DD et al.

Nature Communications, 2025

40368937 (PubMed )
Supplement: 41467_2025_59775_MOESM1_ESM.pdf

Genotype-phenotype correlations in PMS2-associated constitutional mismatch repair deficiency: a systematic literature review.

Munteanu CV et al.

Oncology Reviews, 2025

Microsatellite instability in noncolorectal and nonendometrial malignancies in patients with Lynch syndrome.

Elze L et al.

Journal of the National Cancer Institute, 2023

37018159 (PubMed )
Supplement: djad063_supplementary_data.zip › djad063_Supplementary_Data › JNCI-22-1411_SupplementaryTable1_revised.xlsx › eTable_1

High Prevalence of Constitutional Mismatch Repair Deficiency in a Pediatric T-cell Lymphoblastic Lymphoma Cohort.

Kroeze E et al.

Hemasphere, 2022

Evaluation of yield and experiences of age-related molecular investigation for heritable and nonheritable causes of mismatch repair deficient colorectal cancer to identify Lynch syndrome.

Vos JR et al.

International Journal of Cancer, 2020

32510614 (PubMed )
Supplement: IJC-147-2150-s001.pdf

Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.

van der Klift HM et al.

Human Mutation, 2016

Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.

ten Broeke SW et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2015

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