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

Familial Esophageal Squamous Cell Carcinoma with damaging rare/germline mutations in KCNJ12/KCNJ18 and GPRIN2 genes.

Cancer genetics - 1 Feb 2018

Khalilipour Narjes, Baranova Ancha, Jebelli Amir, Heravi-Moussavi Alireza, Bruskin Sergey, Abbaszadegan Mohammad Reza

Abstract excerpt

In Iran, esophageal cancer is the fourth common cancers in women and sixth common cancers in men. Here we evaluated the importance of familial risk factors and the role of genetic predisposition in Esophageal Squamous Cell Carcinoma (ESCC) using Whole-Exome Sequencing (WES). Germline damaging mutations were identified in WES data from 9 probands of 9 unrelated ESCC pedigrees. Mutations were confirmed with Sanger...

Read the complete abstract on PubMed

Topics

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

Share to Carrier Proteins
Share to Esophageal Squamous Cell Carcinoma

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Membrane Proteins

Share to Nerve Tissue Proteins

Share to Potassium Channels, Inwardly Rectifying

Source

Identifiers

PMID: 29405996
DOI: 10.1016/j.cancergen.2017.11.011

Genes

GPRIN2
KCNJ12
KCNJ18

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Familial Esophageal Squamous Cell Carcinoma with damaging rare/germline mutations in KCNJ12/KCNJ18 and GPRIN2 genes.PMID 29405996Read ↗

Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell CancerSemantic proximity Read ↗

Novel candidate genes may be possible predisposing factors revealed by whole exome sequencing in familial esophageal squamous cell carcinoma.Semantic proximity Read ↗

Epidemiological studies of esophageal cancer in the era of genome-wide association studiesSemantic proximity Read ↗

Systematic Review and Meta-analysis of the Most Common Genetic Mutations in Esophageal Squamous Cell Carcinoma.Semantic proximity Read ↗

CCGD-ESCC: A Comprehensive Database for Genetic Variants Associated with Esophageal Squamous Cell Carcinoma in Chinese Population.Semantic proximity Read ↗

Association of single nucleotide polymorphisms in ERCC2 gene and their haplotypes with esophageal squamous cell carcinoma.Semantic proximity Read ↗

Candidate susceptibility variants for esophageal squamous cell carcinoma.Semantic proximity Read ↗

Cumulative Evidence for Associations between Genetic Variants and Risk of Esophageal Cancer.Semantic proximity Read ↗

BRCA2 loss‐of‐function germline mutations are associated with esophageal squamous cell carcinoma risk in ChineseSemantic proximity Read ↗

Genome Sequencing in Esophageal Squamous Cell Carcinoma.Semantic proximity Read ↗

Whole-Exome Sequencing of Esophageal Submucosal Gland Duct AdenocarcinomaSemantic proximity Read ↗

Replication of a genome-wide case-control study of esophageal squamous cell carcinoma.Semantic proximity Read ↗

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