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Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine.

Familial cancer - 1 Jul 2018

Myszka Aleksander, Nguyen-Dumont Tu, Karpinski Pawel, Sasiadek Maria M, Akopyan Hayane, Hammet Fleur, Tsimiklis Helen, Park Daniel J, Pope Bernard J, Slezak Ryszard, Kitsera Nataliya, Siekierzynska Aleksandra, Southey Melissa C

Abstract excerpt

Loss-of-function germline mutations in the PALB2 gene are associated with an increase of breast cancer risk. The purpose of this study was to characterise the spectrum of PALB2 mutations in women affected with breast or ovarian cancer from South-West Poland and West Ukraine. We applied Hi-Plex, an amplicon-based enrichment method for targeted massively parallel sequencing, to screen the coding exons and proximal...

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Source

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Identifiers

PMID: 29052111
DOI: 10.1007/s10689-017-0050-6
PMCID: PMC5999175

Genes

PALB2

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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