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Article

Exome sequencing and case-control analyses identify RCC1 as a candidate breast cancer susceptibility gene.

International journal of cancer - 15 Jun 2018

Riahi Aouatef, Radmanesh Hoda, Schürmann Peter, Bogdanova Natalia, Geffers Robert, Meddeb Rym, Kharrat Maher, Dörk Thilo

Abstract excerpt

Breast cancer is a genetic disease but the known genes explain a minority of cases. To elucidate the molecular basis of breast cancer in the Tunisian population, we performed exome sequencing on six BRCA1/BRCA2 mutation-negative patients with familial breast cancer and identified a novel frameshift mutation in RCC1, encoding the Regulator of Chromosome Condensation 1. Subsequent genotyping detected the 19-bp...

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Source

Identifiers

PMID: 29363114
DOI: 10.1002/ijc.31273

Genes

RCC1
BRCA1
BRCA2

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.

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