BMPR1A mutations in early-onset colorectal cancer with mismatch repair proficiency
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| Published in: | Clinical genetics Vol. 84; no. 1; pp. 94 - 96 |
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| Main Authors: | , , , , , , , , , , , , , , |
| Format: | Journal Article |
| Language: | English |
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Oxford, UK
Blackwell Publishing Ltd
01-07-2013
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| Author | Carracedo, Á Bessa, X Jover, R Abulí, A Andreu, M Brea-Fernández, A Fernandez-Rozadilla, C Llor, X Álvarez-Urturi, C Clofent, J Payá, A Castells, A Ruiz-Ponte, C Xicola, R Castellví-Bel, S |
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/23057600$$D View this record in MEDLINE/PubMed |
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| Cites_doi | 10.1089/gte.2007.0014 10.1086/513607 10.1038/ejhg.2010.211 10.1093/nar/gkm076 10.1053/j.gastro.2011.03.063 10.1038/ng.237 |
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| Copyright | 2012 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd |
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| Notes | istex:F2DE373E6E83554EF9FECDF88106E8FC51C7F220 Appendix S1. Members of the EPICOLON Consortium (Gastrointestinal Oncology Group of the Spanish Gastroenterological Association). Fondo de Investigacion Sanitaria/FEDER - No. 08/0024; No. 08/1276; No. CP03-0070; No. PS09/02368; No. 11/00219; No. 11/00681 ArticleID:CGE12023 ark:/67375/WNG-PCR40JHJ-1 All authors are listed in Appendix S1. |
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| References | Riegert-Johnson DL, Johnson RA, Rabe KG et al. The value of MUTYH testing in patients with early onset microsatellite stable colorectal cancer referred for hereditary nonpolyposis colon cancer syndrome testing. Genet Test 2007: 11: 361-365. Colella S, Yau C, Taylor JM et al. QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data. Nucleic Acids Res 2007: 35: 2013-2025. Korn JM, Kuruvilla FG, McCarroll SA et al. Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat Genet 2008: 40: 1253-1260. Balciuniene J, Feng N, Iyadurai K et al. Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities. Am J Hum Genet 2007: 80: 938-947. van Bon BW, Balciuniene J, Fruhman G et al. The phenotype of recurrent 10q22q23 deletions and duplications. Eur J Hum Genet 2011: 19: 400-408. Nieminen TT, Abdel-Rahman WM, Ristimaki A et al. BMPR1A mutations in hereditary nonpolyposis colorectal cancer without mismatch repair deficiency. Gastroenterology 2011: 141: e23-e26. 2011; 141 2008; 40 2007; 80 2007; 11 2011; 19 2007; 35 e_1_2_2_4_1 e_1_2_2_5_1 e_1_2_2_6_1 e_1_2_2_7_1 e_1_2_2_2_1 e_1_2_2_3_1 |
| References_xml | – volume: 35 start-page: 2013 year: 2007 end-page: 2025 article-title: QuantiSNP: an Objective Bayes Hidden‐Markov Model to detect and accurately map copy number variation using SNP genotyping data publication-title: Nucleic Acids Res – volume: 11 start-page: 361 year: 2007 end-page: 365 article-title: The value of MUTYH testing in patients with early onset microsatellite stable colorectal cancer referred for hereditary nonpolyposis colon cancer syndrome testing publication-title: Genet Test – volume: 19 start-page: 400 year: 2011 end-page: 408 article-title: The phenotype of recurrent 10q22q23 deletions and duplications publication-title: Eur J Hum Genet – volume: 141 start-page: e23 year: 2011 end-page: e26 article-title: BMPR1A mutations in hereditary nonpolyposis colorectal cancer without mismatch repair deficiency publication-title: Gastroenterology – volume: 80 start-page: 938 year: 2007 end-page: 947 article-title: Recurrent 10q22‐q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities publication-title: Am J Hum Genet – volume: 40 start-page: 1253 year: 2008 end-page: 1260 article-title: Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs publication-title: Nat Genet – ident: e_1_2_2_5_1 doi: 10.1089/gte.2007.0014 – ident: e_1_2_2_6_1 doi: 10.1086/513607 – ident: e_1_2_2_7_1 doi: 10.1038/ejhg.2010.211 – ident: e_1_2_2_4_1 doi: 10.1093/nar/gkm076 – ident: e_1_2_2_2_1 doi: 10.1053/j.gastro.2011.03.063 – ident: e_1_2_2_3_1 doi: 10.1038/ng.237 |
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| SubjectTerms | Age of Onset Base Sequence Bone Morphogenetic Protein Receptors, Type I - genetics Chromosomes, Human, Pair 10 Colorectal Neoplasms, Hereditary Nonpolyposis - diagnosis Colorectal Neoplasms, Hereditary Nonpolyposis - genetics DNA Mismatch Repair Heterozygote Humans Male Middle Aged Molecular Sequence Data Sequence Deletion |
| Title | BMPR1A mutations in early-onset colorectal cancer with mismatch repair proficiency |
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