ArticleHereditary cancer in clinical practice2020
Prevalence of RECQL germline variants in Pakistani early-onset and familial breast cancer patients.
Article in Hereditary cancer in clinical practice, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 6 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
6 citing papers in PubMed, 14 citations in OpenAlex.
- Understanding genetic variations associated with familial breast cancer.World journal of surgical oncology · 2024Review
- Marginal Contribution of PathogenicJournal of cancer & allied specialties · 2024Article
- Contribution of constitutional BRCA1 promoter methylation to early-onset and familial breast cancer patients from Pakistan.Breast cancer research and treatment · 2023Article
- Spectrum of germline pathogenic variants using a targeted next generation sequencing panel and genotype-phenotype correlations in patients with suspected hereditary breast cancer at an academic medical centre in Pakistan.Hereditary cancer in clinical practice · 2022Article
- High Expression of RECQL Protein in ER-Positive Breast Tumours Is Associated With a Better Survival.Frontiers in oncology · 2022Article
- Correction to: Prevalence of RECQL germline variants in Pakistani early-onset and familial breast cancer patients.Hereditary cancer in clinical practice · 2021Article
Corrections and comments
- Erratum issued
Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundThe RecQ Like Helicase (RECQL) gene has previously been shown to predispose to breast cancer mainly in European populations, in particular to estrogen receptor (ER) and/or progesterone receptor (PR) positive tumor. Here, we investigated the contribution of pathogenic RECQL germline variants to hereditary breast cancer in early-onset and familial breast cancer patients from Pakistan.
methodsComprehensive RECQL variant analysis was performed in 302 BRCA1 and BRCA2 negative patients with ER and/or PR positive breast tumors using denaturing high-performance liquid chromatography followed by DNA sequencing. Novel variants were classified using Sherloc guidelines.
resultsOne novel pathogenic protein-truncating variant (p.W75*) was identified in a 37-year-old familial breast cancer patient. The pathogenic variant frequencies were 0.3% (1/302) in early-onset and familial breast cancer patients and 0.8% (1/133) in familial patients. Further, three novel variants of unknown significance, p.I141F, p.S182S, and p.C475C, were identified in familial breast cancer patients at the age of 47, 68, and 47 respectively. All variants were absent in 250 controls.
conclusionsOur data suggest that the RECQL gene plays a negligible role in breast cancer predisposition in Pakistan.
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