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Germline mutations of breast cancer susceptibility genes through expanded genetic analysis in unselected Colombian patients

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Abstract:

In Colombia and worldwide, breast cancer (BC) is the most frequently diagnosed neoplasia and the leading cause of death from cancer among women. Studies predominantly involve hereditary and familial cases, demonstrating a gap in the literature regarding the identification of germline mutations in unselected patients from Latin-America. Identification of pathogenic/likely pathogenic (P/LP) variants is important for shaping national genetic analysis policies, genetic counseling, and early detection strategies. The present study included 400 women with unselected breast cancer (BC), in whom we analyzed ten genes, using Whole Exome Sequencing (WES), know to confer risk for BC, with the aim of determining the genomic profile of previously unreported P/LP variants in the affected population. Additionally, Multiplex Ligation-dependent Probe Amplification (MLPA) was performed to identify Large Genomic Rearrangements (LGRs) in the BRCA1/2 genes. To ascertain the functional impact of a recurrent intronic variant (ATM c.5496 + 2_5496 + 5delTAAG), a minigene assay was conducted.

Tópico:

BRCA gene mutations in cancer

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Información de la Fuente:

SCImago Journal & Country Rank
FuenteHuman Genomics
Cuartil año de publicaciónNo disponible
Volumen18
Issue1
PáginasNo disponible
pISSNNo disponible
ISSN1473-9542

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