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Germline copy number variations in BRCA1/2 negative families: Role in the molecular etiology of hereditary breast cancer in Tunisia.

PloS one - 1 Jan 2021

Boujemaa Maroua, Hamdi Yosr, Mejri Nesrine, Romdhane Lilia, Ghedira Kais, Bouaziz Hanen, El Benna Houda, Labidi Soumaya, Dallali Hamza, Jaidane Olfa, Ben Nasr Sonia, Haddaoui Abderrazek, Rahal Khaled, Abdelhak Sonia, Boussen Hamouda, Boubaker Mohamed Samir

Abstract excerpt

Hereditary breast cancer accounts for 5-10% of all breast cancer cases. So far, known genetic risk factors account for only 50% of the breast cancer genetic component and almost a quarter of hereditary cases are carriers of pathogenic mutations in BRCA1/2 genes. Hence, the genetic basis for a significant fraction of familial cases remains unsolved. This missing heritability may be explained in part by Copy Number...

Topics

Adult
BRCA1 Protein
BRCA2 Protein
Breast Neoplasms
DNA Copy Number Variations
Female
Genes, BRCA1
Genes, BRCA2
Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Germ-Line Mutation

Humans

Middle Aged

Tunisia

Source

Open in PubMed Open full text

Identifiers

PMID: 33503040
DOI: 10.1371/journal.pone.0245362
PMCID: PMC7840007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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