Varaico: Literature-Extracted Genetic Variants

Gene:POLQ
Variant:p.I1421_L1423delFs
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POLQ

NM_199420.4:p.I1421_L1423delFs

Associated Papers

Discovering Hereditary Risk Through Surveillance: A Prospective Genetic Analysis of Individuals With Familial Pancreatic Cancer.

Paiella S et al.

United European Gastroenterology Journal, 2026

41691430 (PubMed )
Supplement: UEG2-14-e70187-s001.xlsx › Sheet1

Pathogenic germline variants in small cell lung cancer: A systematic review and meta-analysis.

Ul Haq S et al.

Hgg Advances, 2025

40308030 (PubMed )
Supplement: mmc2.xlsx › Table_S3

Germline Sequencing of Familial and Sporadic Early-Onset Colorectal Cancer: A Novel Pattern of Genes.

Vande Perre P et al.

International Journal of Molecular Sciences, 2025

Germline DNA Damage Repair Gene Alterations in Patients with Metachronous Breast and Colorectal Cancer.

Villacis RAR et al.

International Journal of Molecular Sciences, 2024

39408606 (PubMed )
Supplement: ijms-25-10275-s001.zip › Supplementary_Tables_-_Revised.xlsx › Table_S4

Rare Germline Variants in DNA Repair Genes Detected in BRCA-Negative Finnish Patients with Early-Onset Breast Cancer.

Kurkilahti V et al.

Cancers, 2024

Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer.

Adamson AW et al.

Journal of Ovarian Research, 2023

37460928 (PubMed )
Supplement: 13048_2023_1234_MOESM2_ESM.xlsx › Table_S10__

Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer.

Felicio PS et al.

Human Mutation, 2021

33326660 (PubMed )
Supplement: HUMU-42-290-s006.xlsx › Table_S4_-_VUS_identified_

Whole-exome sequencing reveals germline-mutated small cell lung cancer subtype with favorable response to DNA repair-targeted therapies.

Tlemsani C et al.

Science Translational Medicine, 2021

Common germline-somatic variant interactions in advanced urothelial cancer.

Vosoughi A et al.

Nature Communications, 2020

33273457 (PubMed )
Supplement: 41467_2020_19971_MOESM4_ESM.xlsx › Suppl._Data_2

Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis.

Partanen T et al.

Journal of Clinical Immunology, 2020

32936395 (PubMed )
Supplement: 10875_2020_834_MOESM1_ESM.xlsx › Sheet1

Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women.

Sepahi I et al.

Bmc Cancer, 2019

31395037 (PubMed )
Supplement: 12885_2019_5946_MOESM5_ESM.xlsx › Tabelle1

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.

Saleheen D et al.

Nature, 2017

28406212 (PubMed )
Supplement: NIHMS857566-supplement-Suppl__Table_1.xlsx › Supplementary_Table_1
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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."