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Article

Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity.

Breast cancer research and treatment - 1 Sept 2016

Pinto Pedro, Paulo Paula, Santos Catarina, Rocha Patrícia, Pinto Carla, Veiga Isabel, Pinheiro Manuela, Peixoto Ana, Teixeira Manuel R

Abstract excerpt

Molecular diagnosis of hereditary breast and ovarian cancer (HBOC) by standard methodologies has been limited to the BRCA1 and BRCA2 genes. With the recent development of new sequencing methodologies, the speed and efficiency of DNA testing have dramatically improved. The aim of this work was to validate the use of next-generation sequencing (NGS) for the detection of BRCA1/BRCA2 point mutations in a diagnostic...

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Source

Identifiers

PMID: 27553368
DOI: 10.1007/s10549-016-3948-z

Genes

BRCA2
BRCA1
ATM
CHEK2
PALB2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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