Varaico: Literature-Extracted Genetic Variants

Gene:RECQL
Variant:p.S620*
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RECQL

NM_002907.4:p.S620*

Associated Papers

Germline mutational landscape in a large cohort of Indian breast cancer.

Peter J et al.

Bmc Cancer, 2025

41327099 (PubMed )
Supplement: 12885_2025_15360_MOESM3_ESM.xlsx › Sheet1

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3

Rare Germline Pathogenic Variants Identified by Multigene Panel Testing and the Risk of Aggressive Prostate Cancer.

Nguyen-Dumont T et al.

Cancers, 2021

Inherited predisposition to breast cancer in the Carolina Breast Cancer Study.

Walsh T et al.

Npj Breast Cancer, 2021

33479248 (PubMed )
Supplement: 41523_2020_214_MOESM1_ESM.pdf

Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.

Byrjalsen A et al.

Plos Genetics, 2020

Rare germline genetic variants and risk of aggressive prostate cancer.

Nguyen-Dumont T et al.

International Journal of Cancer, 2020

Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes.

Stolarova L et al.

Biomedicines, 2020

33050356 (PubMed )
Supplement: biomedicines-08-00404-s001.zip › Supplementary_Tables.xlsx › TabS3

RECQ1 Helicase in Genomic Stability and Cancer.

Debnath S et al.

Genes, 2020

Pan-cancer whole-genome analyses of metastatic solid tumours.

Priestley P et al.

Nature, 2019

31645765 (PubMed )
Supplement: 41586_2019_1689_MOESM11_ESM.xlsx › Sheet1

Clinical implications of germline mutations in breast cancer genes: RECQL.

Bowden AR et al.

Breast Cancer Research and Treatment, 2019

Reply to 'Mutations in RECQL are not associated with breast cancer risk in an Australian population'.

Ahmed H et al.

Nature Genetics, 2018

Mutations in RECQL are not associated with breast cancer risk in an Australian population.

Li N et al.

Nature Genetics, 2018

Germline RECQL mutations are associated with breast cancer susceptibility.

Cybulski C et al.

Nature Genetics, 2015

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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."