Varaico: Literature-Extracted Genetic Variants

Gene:RECQL
Variant:p.R215*
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RECQL

NM_002907.4:p.R215*

Associated Papers

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

Peter J et al.

Bmc Cancer, 2025

Isocitrate dehydrogenase 1 gene mutations: a case review unveiling its biological impact on disease progression, prognosis and treatment in Chilean patients.

de Mayo Glasser T et al.

Bjr Case Reports, 2025

Understanding genetic variations associated with familial breast cancer.

Pal M et al.

World Journal of Surgical Oncology, 2024

Immune infiltration, aggressive pathology, and poor survival outcomes in RECQL helicase deficient breast cancers.

Lashen A et al.

Neoplasia (new York, N.y.), 2024

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.

Dumont M et al.

Cancers, 2022

35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S4-final_16052022.xlsx › Table_4A

Germline breast cancer susceptibility genes, tumor characteristics, and survival.

Ho PJ et al.

Genome Medicine, 2021

34857041 (PubMed )
Supplement: 13073_2021_978_MOESM1_ESM.xlsx › sT2

The Genetic Analyses of French Canadians of Quebec Facilitate the Characterization of New Cancer Predisposing Genes Implicated in Hereditary Breast and/or Ovarian Cancer Syndrome Families.

Fierheller CT et al.

Cancers, 2021

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

Rare loss of function variants in candidate genes and risk of colorectal cancer.

Rosenthal EA et al.

Human Genetics, 2018

FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine.

Nguyen-Dumont T et al.

Bmc Medical Genetics, 2018

Analysis of a RECQL splicing mutation, c.1667_1667+3delAGTA, in breast cancer patients and controls from Central Europe.

Bogdanova N et al.

Familial Cancer, 2017

A Review of Whole-Exome Sequencing Efforts Toward Hereditary Breast Cancer Susceptibility Gene Discovery.

Chandler MR et al.

Human Mutation, 2016

Germline RECQL mutations are associated with breast cancer susceptibility.

Cybulski C et al.

Nature Genetics, 2015

RECQL: a new breast cancer susceptibility gene.

Banerjee T et al.

Cell Cycle (georgetown, Tex.), 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."