Haplotype analyses of the c.1027C>T and c.2167_2168delAT recurrent truncating mutations in the breast cancer-predisposing gene PALB2.

doi:10.1007/s10549-016-3981-y

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Haplotype analyses of the c.1027C>T and c.2167_2168delAT recurrent truncating mutations in the breast cancer-predisposing gene PALB2.

Breast cancer research and treatment - 1 Nov 2016

Catucci Irene, Casadei Silvia, Ding Yuan Chun, Volorio Sara, Ficarazzi Filomena, Falanga Anna, Marchetti Marina, Tondini Carlo, Franchi Michela, Adamson Aaron, Mandell Jessica, Walsh Tom, Olopade Olufunmilayo I, Manoukian Siranoush, Radice Paolo, Ricker Charite, Weitzel Jeffrey, King Mary-Claire, Peterlongo Paolo, Neuhausen Susan L

Abstract excerpt

PURPOSE: Breast cancer-predisposing mutations PALB2 c.1027C>T (p.Gln343*) and PALB2 c.2167_2168delAT have each been observed multiple times in breast cancer families of Italian ancestry. More recently, the c2167_2168delAT mutation was identified in unrelated breast cancer cases of various ancestries. For each mutation, we investigated whether the origin was multiple mutational events (a "hot-spot") or a single...

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PMID: 27624329
DOI: 10.1007/s10549-016-3981-y
PMCID: PMC5551669

Genes

PALB2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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