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Article

Exome Sequencing in a Family with Luminal-Type Breast Cancer Underpinned by Variation in the Methylation Pathway.

International journal of molecular sciences - 22 Feb 2017

van der Merwe Nicole, Peeters Armand V, Pienaar Fredrieka M, Bezuidenhout Juanita, van Rensburg Susan J, Kotze Maritha J

Abstract excerpt

Panel-based next generation sequencing (NGS) is currently preferred over whole exome sequencing (WES) for diagnosis of familial breast cancer, due to interpretation challenges caused by variants of uncertain clinical significance (VUS). There is also no consensus on the selection criteria for WES. In this study, a pathology-supported genetic testing (PSGT) approach was used to select two BRCA1/2 mutation-negative...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28241424
DOI: 10.3390/ijms18020467
PMCID: PMC5343999

Genes

MAF
BRCA1
MTHFR
RAD50

Variants

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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