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Open Access 01-12-2016 | Letter

The PALB2 p.Leu939Trp mutation is not associated with breast cancer risk

Authors: Irene Catucci, Paolo Radice, Roger L. Milne, Fergus J. Couch, Melissa C. Southey, Paolo Peterlongo

Published in: Breast Cancer Research | Issue 1/2016

Excerpt

Missense mutations in breast cancer predisposition genes are a substantial clinical problem. These are usually considered variants of uncertain significance (VUS) until genetic, clinical, and functional data provide statistical evidence for reclassification as pathogenic or neutral. …

Park JY, Singh TR, Nassar N, Zhang F, Freund M, Hanenberg H, et al. Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair. Oncogene. 2014;33:4803–12.CrossRefPubMed

Hellebrand H, Sutter C, Honisch E, Gross E, Wappenschmidt B, Schem C, et al. Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer. Hum Mutat. 2011;32:E2176–88.CrossRefPubMed

Rahman N, Seal S, Thompson D, Kelly P, Renwick A, Elliott A, et al. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet. 2007;39:165–7.CrossRefPubMed

Catucci I, Peterlongo P, Ciceri S, Colombo M, Pasquini G, Barile M, et al. PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo. Genet Med. 2014;16:688–94.CrossRefPubMed

Southey MC, Goldgar D, Winqvist R, Pylkäs K, Couch F, Tischkowitz M, et al. PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. JMG. 2016. doi:10.1136/jmedgenet-2016-103839.

Title: The PALB2 p.Leu939Trp mutation is not associated with breast cancer risk
Authors: Irene Catucci
Paolo Radice
Roger L. Milne
Fergus J. Couch
Melissa C. Southey
Paolo Peterlongo
Publication date: 01-12-2016
Publisher: BioMed Central
Published in: Breast Cancer Research / Issue 1/2016
Electronic ISSN: 1465-542X
DOI: https://doi.org/10.1186/s13058-016-0762-9

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