Abstract
Ductal carcinoma in situ (DCIS) comprises a diverse group of preinvasive lesions in the breast and poses a considerable clinical challenge due to lack of markers of progression. Genomic alterations are to a large extent similar in DCIS and invasive carcinomas, although differences in copy number aberrations, gene expression patterns, and mutations exist. In mixed tumors with synchronous invasive breast cancer (IBC) and DCIS, it is still unclear to what extent invasive tumor cells are directly derived from the DCIS cells. Our aim was to compare cancer-relevant mutation profiles of different cellular compartments in mixed DCIS/IBC and pure DCIS tumors. We performed targeted sequencing of 50 oncogenes in microdissected tissue from three different epithelial cell compartments (in situ, invasive, and normal adjacent epithelium) from 26 mixed breast carcinomas. In total, 44 tissue samples (19 invasive, 16 in situ, 9 normal) were subjected to sequencing using the Ion Torrent platform and the AmpliSeq Cancer Hotspot Panel v2. For comparison, 10 additional, pure DCIS lesions were sequenced. Across all mixed samples, we detected 23 variants previously described in cancer. The most commonly affected genes were TP53, PIK3CA, and ERBB2. The...Continue Reading
References
Feb 1, 1993·Journal of Clinical Pathology·E W Elston, I O Ellis
Sep 15, 2001·British Journal of Cancer·F WärnbergL Holmberg
Apr 5, 2005·Cancer Research·Lao H SaalRamon Parsons
Dec 2, 2005·Breast Cancer Research and Treatment·Bircan ErbasDorota Gertig
Dec 10, 2008·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Henry M KuererGabriel N Hortobagyi
May 1, 2009·Molecular Oncology·Wenjing ZhouAnita Langerød
May 7, 2009·Breast Cancer Research and Treatment·Jennifer DunlapMegan L Troxell
Jul 2, 2009·Applied Immunohistochemistry & Molecular Morphology : AIMM·Mario Casales SchorrCláudio Galleano Zettler
Oct 13, 2009·Experimental and Molecular Pathology·Hua LiHongguang Zhu
Apr 29, 2010·British Journal of Cancer·H WongR J Epstein
Jun 17, 2010·Cancer Research·Alexander MironKornelia Polyak
Jan 12, 2011·Nature Biotechnology·James T RobinsonJill P Mesirov
Jan 19, 2012·The Journal of Pathology·Lucia HernandezJorge S Reis-Filho
Dec 5, 2012·Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine·Sven Kurbel
Apr 18, 2013·PLoS Computational Biology·Lauren M BraggGene W Tyson
Jul 31, 2013·Molecular Oncology·Catherine F CowellJorge S Reis-Filho
Mar 19, 2014·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Rita A SakrTari A King
Sep 2, 2014·Scientific Reports·Bo PangGui-Jian Liu
Dec 17, 2014·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Melinda E SandersWilliam D Dupont
Apr 2, 2015·Oncotarget·Shinn Young KimSug Hyung Lee
Aug 10, 2015·Breast Cancer Research and Treatment·Swapnil Ulhas RaneSarah E Pinder
Oct 3, 2015·CA: a Cancer Journal for Clinicians·Elizabeth M WardTed Gansler
May 3, 2016·Nature·Serena Nik-ZainalMichael R Stratton
Mar 25, 2017·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Jia-Min B PangStephen B Fox
Nov 8, 2017·Frontiers in Oncology·Kylie L Gorringe, Stephen B Fox
Oct 5, 2018·Virchows Archiv : an International Journal of Pathology·S C DoebarC H M van Deurzen
Mar 8, 2019·The Journal of Pathology·Tanjina KaderKylie L Gorringe
Mar 8, 2019·Endocrine-related Cancer·Marie Colombe AgahozoCarolien van Deurzen