Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.W841fs
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PMS2

NM_000535.7:p.W841fs

Associated Papers

Mismatch Repair Proficient Colorectal Adenocarcinoma in Two Patients With Lynch Syndrome.

Khandakar B et al.

Clinical Genetics, 2025

Precision immuno-oncology approach for four malignant tumors in siblings with constitutional mismatch repair deficiency syndrome.

Palova H et al.

Npj Precision Oncology, 2024

The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.

Villani A et al.

Nature Cancer, 2023

36585449 (PubMed )
Supplement: 43018_2022_474_MOESM10_ESM.xlsx › Table_S5_-_Category_C_variants

Frequency of genomic secondary findings among 21,915 eMERGE network participants.

Unknown Author

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32546831 (PubMed )
Supplement: NIHMS1615423-supplement-Supplementary_Table_2.xlsx › Sheet1

Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome.

Wang Q et al.

Journal of Medical Genetics, 2020

Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma.

Nassar AH et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

31844177 (PubMed )
Supplement: 41436_2019_720_MOESM4_ESM.xlsx › S1.2_Pathogenic_variants

Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.

Lagerstedt-Robinson K et al.

Oncology Reports, 2016

[Retrospective NGS Study in High-risk Hereditary Cancer Patients at Masaryk Memorial Cancer Institute].

Macháčková E et al.

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2016

[Surgical prevention of breast carcinoma in patients with hereditary risk].

Dražan L et al.

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2012

Clinical utility of comprehensive genomic profiling in central nervous system tumors of children and young adults.

Ji J et al.

Neuro-oncology Advances, 0

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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."