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Article

Preimplantation genetic diagnosis using combined strategies on a breast cancer patient with a novel genomic deletion in BRCA2.

Journal of assisted reproduction and genetics - 1 Dec 2014

Wang Qingxue, Chow Judy F C, Yeung William S B, Lau Estella Y L, Lee Vivian C Y, Ng Ernest H Y, Ho Pak-Chung

Abstract excerpt

PURPOSE: To perform Preimplantation Genetic Diagnosis (PGD) on a paternal Brca2 unknown mutation carrier with early-onset breast cancer, whose paternal grandmother and mother had breast cancer at 60s. METHOD: Elucidating the linkage via single sperm haplotyping on patient's carrier brother, and identifying the genomic deletion via BLAST followed by PCR screening. PGD was subsequently conducted. RESULT: The mutant...

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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: 25304112
DOI: 10.1007/s10815-014-0355-4
PMCID: PMC4250453

Genes

PGD
BRCA2
RAD51

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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