PURPOSE: To identify cancer-linked genes, Sjöblom et al. and Wood et al. performed a genome-wide mutation screening in human breast and colorectal cancers. 140 CAN-genes were found in breast cancer, which in turn contained overall 334 mutations. These mutations could prove useful for diagnostic and therapeutic purposes. METHODS: We used a MALDI-TOF MS 40-plex assay for testing 40 loci within 21 high-ranking breast cancer CAN-genes. To confirm mutations, we performed single-plex assays and sequencing. RESULTS: In general, the mutation rate of the analyzed loci in our sample cohort was very low. No mutation from the 40 loci analyzed could be found in the 6 cell lines. In tissue samples, a single breast cancer tissue sample showed heterozygosity at locus c.5834G>A within the ZFYVE26 gene (Zinc finger FYVE domain-containing gene 26). CONCLUSIONS: Sjöblom et al./Wood et al. already showed that the vast majority of CAN-genes are mutated at very low frequency. Due to the fact that we only found one mutation in our cohort, we therefore assume that at the selected loci, mutations might be low-frequency events and therefore, more rarely detectable. However, further evaluation of the CAN-gene mutations in larger cohorts should be the aim of further studies.
PURPOSE: To identify cancer-linked genes, Sjöblom et al. and Wood et al. performed a genome-wide mutation screening in human breast and colorectal cancers. 140 CAN-genes were found in breast cancer, which in turn contained overall 334 mutations. These mutations could prove useful for diagnostic and therapeutic purposes. METHODS: We used a MALDI-TOF MS 40-plex assay for testing 40 loci within 21 high-ranking breast cancer CAN-genes. To confirm mutations, we performed single-plex assays and sequencing. RESULTS: In general, the mutation rate of the analyzed loci in our sample cohort was very low. No mutation from the 40 loci analyzed could be found in the 6 cell lines. In tissue samples, a single breast cancer tissue sample showed heterozygosity at locus c.5834G>A within the ZFYVE26 gene (Zinc finger FYVE domain-containing gene 26). CONCLUSIONS: Sjöblom et al./Wood et al. already showed that the vast majority of CAN-genes are mutated at very low frequency. Due to the fact that we only found one mutation in our cohort, we therefore assume that at the selected loci, mutations might be low-frequency events and therefore, more rarely detectable. However, further evaluation of the CAN-gene mutations in larger cohorts should be the aim of further studies.
Authors: Alex Xiu-Cheng Fan; Henk S P Garritsen; Shereen E L Tarhouny; Michael Morris; Sinuhe Hahn; Wolfgang Holzgreve; Xiao Yan Zhong Journal: Clin Chem Lab Med Date: 2008 Impact factor: 3.694
Authors: Antonia P Sagona; Ioannis P Nezis; Nina Marie Pedersen; Knut Liestøl; John Poulton; Tor Erik Rusten; Rolf I Skotheim; Camilla Raiborg; Harald Stenmark Journal: Nat Cell Biol Date: 2010-03-07 Impact factor: 28.824
Authors: Tobias Sjöblom; Siân Jones; Laura D Wood; D Williams Parsons; Jimmy Lin; Thomas D Barber; Diana Mandelker; Rebecca J Leary; Janine Ptak; Natalie Silliman; Steve Szabo; Phillip Buckhaults; Christopher Farrell; Paul Meeh; Sanford D Markowitz; Joseph Willis; Dawn Dawson; James K V Willson; Adi F Gazdar; James Hartigan; Leo Wu; Changsheng Liu; Giovanni Parmigiani; Ben Ho Park; Kurtis E Bachman; Nickolas Papadopoulos; Bert Vogelstein; Kenneth W Kinzler; Victor E Velculescu Journal: Science Date: 2006-09-07 Impact factor: 47.728
Authors: Roman K Thomas; Alissa C Baker; Ralph M Debiasi; Wendy Winckler; Thomas Laframboise; William M Lin; Meng Wang; Whei Feng; Thomas Zander; Laura MacConaill; Laura E Macconnaill; Jeffrey C Lee; Rick Nicoletti; Charlie Hatton; Mary Goyette; Luc Girard; Kuntal Majmudar; Liuda Ziaugra; Kwok-Kin Wong; Stacey Gabriel; Rameen Beroukhim; Michael Peyton; Jordi Barretina; Amit Dutt; Caroline Emery; Heidi Greulich; Kinjal Shah; Hidefumi Sasaki; Adi Gazdar; John Minna; Scott A Armstrong; Ingo K Mellinghoff; F Stephen Hodi; Glenn Dranoff; Paul S Mischel; Tim F Cloughesy; Stan F Nelson; Linda M Liau; Kirsten Mertz; Mark A Rubin; Holger Moch; Massimo Loda; William Catalona; Jonathan Fletcher; Sabina Signoretti; Frederic Kaye; Kenneth C Anderson; George D Demetri; Reinhard Dummer; Stephan Wagner; Meenhard Herlyn; William R Sellers; Matthew Meyerson; Levi A Garraway Journal: Nat Genet Date: 2007-02-11 Impact factor: 38.330
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Authors: Laura D Wood; D Williams Parsons; Siân Jones; Jimmy Lin; Tobias Sjöblom; Rebecca J Leary; Dong Shen; Simina M Boca; Thomas Barber; Janine Ptak; Natalie Silliman; Steve Szabo; Zoltan Dezso; Vadim Ustyanksky; Tatiana Nikolskaya; Yuri Nikolsky; Rachel Karchin; Paul A Wilson; Joshua S Kaminker; Zemin Zhang; Randal Croshaw; Joseph Willis; Dawn Dawson; Michail Shipitsin; James K V Willson; Saraswati Sukumar; Kornelia Polyak; Ben Ho Park; Charit L Pethiyagoda; P V Krishna Pant; Dennis G Ballinger; Andrew B Sparks; James Hartigan; Douglas R Smith; Erick Suh; Nickolas Papadopoulos; Phillip Buckhaults; Sanford D Markowitz; Giovanni Parmigiani; Kenneth W Kinzler; Victor E Velculescu; Bert Vogelstein Journal: Science Date: 2007-10-11 Impact factor: 47.728