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01.10.2010 | Preclinical study

Subtypes of familial breast tumours revealed by expression and copy number profiling

verfasst von: Nic Waddell, Jeremy Arnold, Sibylle Cocciardi, Leonard da Silva, Anna Marsh, Joan Riley, Cameron N. Johnstone, Mohammed Orloff, Guillaume Assie, Charis Eng, Lynne Reid, Patricia Keith, Max Yan, Stephen Fox, Peter Devilee, Andrew K. Godwin, Frans B.L. Hogervorst, Fergus Couch, Sean Grimmond, James M. Flanagan, Kumkum Khanna, Peter T. Simpson, Sunil R. Lakhani, Georgia Chenevix-Trench, kConFab Investigators

Erschienen in: Breast Cancer Research and Treatment | Ausgabe 3/2010

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Abstract

Extensive expression profiling studies have shown that sporadic breast cancer is composed of five clinically relevant molecular subtypes. However, although BRCA1-related tumours are known to be predominantly basal-like, there are few published data on other classes of familial breast tumours. We analysed a cohort of 75 BRCA1, BRCA2 and non-BRCA1/2 breast tumours by gene expression profiling and found that 74% BRCA1 tumours were basal-like, 73% of BRCA2 tumours were luminal A or B, and 52% non-BRCA1/2 tumours were luminal A. Thirty-four tumours were also analysed by single nucleotide polymorphism–comparative genomic hybridization (SNP-CGH) arrays. Copy number data could predict whether a tumour was basal-like or luminal with high accuracy, but could not predict its mutation class. Basal-like BRCA1 and basal-like non-BRCA1 tumours were very similar, and contained the highest number of chromosome aberrations. We identified regions of frequent gain containing potential driver genes in the basal (8q and 12p) and luminal A tumours (1q and 17q). Regions of homozygous loss associated with decreased expression of potential tumour suppressor genes were also detected, including in basal tumours (5q and 9p), and basal and luminal tumours (10q). This study highlights the heterogeneity of familial tumours and the clinical consequences for treatment and prognosis.

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Titel: Subtypes of familial breast tumours revealed by expression and copy number profiling
verfasst von: Nic Waddell
Jeremy Arnold
Sibylle Cocciardi
Leonard da Silva
Anna Marsh
Joan Riley
Cameron N. Johnstone
Mohammed Orloff
Guillaume Assie
Charis Eng
Lynne Reid
Patricia Keith
Max Yan
Stephen Fox
Peter Devilee
Andrew K. Godwin
Frans B.L. Hogervorst
Fergus Couch
Sean Grimmond
James M. Flanagan
Kumkum Khanna
Peter T. Simpson
Sunil R. Lakhani
Georgia Chenevix-Trench
kConFab Investigators
Publikationsdatum: 01.10.2010
Verlag: Springer US
Erschienen in: Breast Cancer Research and Treatment / Ausgabe 3/2010
Print ISSN: 0167-6806
Elektronische ISSN: 1573-7217
DOI: https://doi.org/10.1007/s10549-009-0653-1

Springer Medizin

Subtypes of familial breast tumours revealed by expression and copy number profiling

Abstract

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Springer Medizin

Abstract

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