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Article

Functional analysis of the 1p34.3 risk locus implicates GNL2 in high-grade serous ovarian cancer.

American journal of human genetics - 6 Jan 2022

Nakamura Koji, Reid Brett M, Chen Ann, Chen Zhihua, Goode Ellen L, Permuth Jennifer B, Teer Jamie K, Tyrer Jonathan, Yu Xiaoqing, Kanetsky Peter A, Pharoah Paul D, Gayther Simon A, Sellers Thomas A, Lawrenson Kate, Karreth Florian A

Abstract excerpt

The high-grade serous ovarian cancer (HGSOC) risk locus at chromosome 1p34.3 resides within a frequently amplified genomic region signifying the presence of an oncogene. Here, we integrate in silico variant-to-function analysis with functional studies to characterize the oncogenic potential of candidate genes in the 1p34.3 locus. Fine mapping of genome-wide association statistics identified candidate causal SNPs...

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Share to Chromatin Immunoprecipitation Sequencing
Share to Chromosomes, Human, Pair 1

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Cystadenocarcinoma, Serous

Share to Enhancer Elements, Genetic

Share to Gene Silencing

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Source

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Identifiers

PMID: 34965383
DOI: 10.1016/j.ajhg.2021.11.020
PMCID: PMC8764204

Genes

GNL2
MEAF6
RSPO1
DNALI1
SNIP1
CTCF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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