Haplotype analyses of the c.1027C>T and c.2167_2168delAT recurrent truncating mutations in the breas...
Haplotype analyses of the c.1027C>T and c.2167_2168delAT recurrent truncating mutations in the breast cancer-predisposing gene PALB2
About this item
Full title
Author / Creator
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 and Neuhausen, Susan L.
Publisher
New York: Springer US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Springer US
Subjects
More information
Scope and Contents
Contents
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...
Alternative Titles
Full title
Haplotype analyses of the c.1027C>T and c.2167_2168delAT recurrent truncating mutations in the breast cancer-predisposing gene PALB2
Authors, Artists and Contributors
Author / Creator
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.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5551669
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5551669
Other Identifiers
ISSN
0167-6806
E-ISSN
1573-7217
DOI
10.1007/s10549-016-3981-y
