Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Comprehensive bioinformatics analysis of selected germline variants of uncertain significance identified in a cohort of Sri Lankan hereditary breast cancer patients.

Human genomics - 12 Feb 2025

Arachchige Nipuni D S, Sirisena Nirmala D, De Silva Sumadee, Senathilake Kanishka S, Faizan Mishal, Dissanayake Vajira H W

Abstract excerpt

BACKGROUND: Next-generation sequencing (NGS)-based testing is a cost-effective method for identifying pathogenic germline genetic variations in cancer-predisposing genes in hereditary breast cancer. However, many of the variants detected through NGS are classified as variants of uncertain significance (VUS), where the impact of the variants on protein function remains unclear. Bioinformatics analysis using...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to BRCA1 Protein
Share to BRCA2 Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Checkpoint Kinase 2

Share to Fanconi Anemia Complementation Group N Protein

Share to Fanconi Anemia Complementation Group Proteins

Share to Germ-Line Mutation

Share to RNA Helicases

Share to Sri Lanka

Source

Open in PubMed Open full text

Identifiers

PMID: 39940038
DOI: 10.1186/s40246-024-00703-8
PMCID: PMC11823233

Genes

BRCA1
BRIP1
MET
CHEK2
STK11

Variants

rs1555587813
rs45437094
rs375507194
rs1207381066

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Comprehensive bioinformatics analysis of selected germline variants of uncertain significance identified in a cohort of Sri Lankan hereditary breast cancer patients.PMID 39940038Read ↗

Germline variants of uncertain significance, their frequency, and clinico-pathological features in a cohort of Sri Lankan patients with hereditary breast cancer.Semantic proximity Read ↗

Novel and reported pathogenic variants in exon 11 of BRCA2 gene in a cohort of Sri Lankan young breast cancer patients.Semantic proximity Read ↗

Pathogenic nsSNPs that increase the risks of cancers among the Orang Asli and Malays.Semantic proximity Read ↗

Understanding the genetic epidemiology of hereditary breast cancer in India using whole genome data from 1029 healthy individualsSemantic proximity Read ↗

Prevalence and Spectrum of BRCA1/2 Germline Mutations in Women with Breast Cancer in China Based on Next-Generation Sequencing.Semantic proximity Read ↗

Germline mutational landscape in a large cohort of Indian breast cancer.Semantic proximity Read ↗

Mutational Landscape for Indian Hereditary Breast and Ovarian Cancer Cohort Suggests Need for Identifying Population Specific Genes and Biomarkers for ScreeningSemantic proximity Read ↗

Profile of Pathogenic Mutations and Evaluation of Germline Genetic Testing Criteria in Consecutive Breast Cancer Patients Treated at a North Indian Tertiary Care Center.Semantic proximity Read ↗

AI-derived comparative assessment of the performance of pathogenicity prediction tools on missense variants of breast cancer genes.Semantic proximity Read ↗

Genomic analysis of breast cancer patients from Kerala: A novel BRCA1 mutation detected.Semantic proximity Read ↗

Assessment of 13 in silico pathogenicity methods on cancer-related variants.Semantic proximity Read ↗

<i>Identification and Characterization of Rare Pathogenic</i> Gene <i>tic Variants Associated with Breast Cancer Susceptibility in 1000 Genome and gnomAD Population</i>Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.

rs545015076