Broad BRCA1 and BRCA2 mutational spectrum and high incidence of recurrent and novel mutations in the eastern Spain population
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| Published in: | Breast cancer research and treatment Vol. 121; no. 1; pp. 257 - 260 |
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| Main Authors: | , , , , , , , , |
| Format: | Journal Article |
| Language: | English |
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01-05-2010
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| Audience | Academic |
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| Author | Barragán González, Eva Segura Huerta, Ángel Esteban Cardeñosa, Eva Bolufer Gilabert, Pascual de Juan Jimenez, Inmaculada Martínez de Dueñas, Eduardo Guillén Ponce, Carmen Chirivella González, Isabel Palanca Suela, Sarai |
| Author_xml | – sequence: 1 fullname: Esteban Cardeñosa, Eva – sequence: 2 fullname: Bolufer Gilabert, Pascual – sequence: 3 fullname: de Juan Jimenez, Inmaculada – sequence: 4 fullname: Palanca Suela, Sarai – sequence: 5 fullname: Barragán González, Eva – sequence: 6 fullname: Chirivella González, Isabel – sequence: 7 fullname: Segura Huerta, Ángel – sequence: 8 fullname: Guillén Ponce, Carmen – sequence: 9 fullname: Martínez de Dueñas, Eduardo |
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| CitedBy_id | crossref_primary_10_1177_107327481602300407 crossref_primary_10_1371_journal_pone_0254101 crossref_primary_10_3390_cancers11091246 crossref_primary_10_3389_fonc_2021_682445 crossref_primary_10_1007_s10689_015_9814_z crossref_primary_10_1007_s10689_010_9327_8 crossref_primary_10_1007_s10689_011_9481_7 crossref_primary_10_1186_1897_4287_9_12 crossref_primary_10_1007_s10689_013_9622_2 |
| Cites_doi | 10.1056/NEJMra012284 10.1007/s10549-007-9868-1 10.1001/jama.279.12.922 10.1007/s10038-006-0404-7 10.1073/pnas.90.21.10325 10.1126/science.7545954 10.1007/s10549-007-9818-y 10.1002/humu.10260 10.1038/ng1294-392 10.1157/13115767 10.1007/s10549-006-9489-0 |
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| DOI | 10.1007/s10549-009-0680-y |
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| Keywords | Frameshift Mutation Pathogenic Mutation BRCA2 Mutation Deleterious Mutation Genetic Counselling Human Sequence specificity Relapse BRCA2 gene Genetics Mutation Epidemiology BRCA1 gene Tumor suppressor gene Incidence |
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| PublicationTitle | Breast cancer research and treatment |
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| References | Szabo, King (CR3) 1997; 60 Malone, Daling, Thompson (CR2) 1998; 279 Neuhausen, Mazoyer, Friedman (CR5) 1996; 58 Ganguly, Rock, Prockop (CR12) 1993; 90 Wooster, Webwe (CR1) 2003; 23 Esteban, Bolufer, Palanca (CR6) 2008; 130 CR8 CR9 CR16 CR11 Esteban, Bolufer, Palanca (CR7) 2007; 112 Miki, Swensen, Shattuck-Eidens (CR10) 1994; 266 Diez, Osorio, Duran (CR13) 2003; 22 Simard, Tonin, Durocher (CR4) 1994; 8 Infante, Duran, Esteban-Cardeñosa (CR15) 2006; 51 Beristain, Martínez-Bouzas, Guerra (CR14) 2007; 106 Miramar, Calvo, Rodriguez (CR17) 2008; 112 Y Miki (680_CR10) 1994; 266 E Beristain (680_CR14) 2007; 106 680_CR8 680_CR9 M Infante (680_CR15) 2006; 51 E Esteban (680_CR7) 2007; 112 E Esteban (680_CR6) 2008; 130 MD Miramar (680_CR17) 2008; 112 KE Malone (680_CR2) 1998; 279 J Simard (680_CR4) 1994; 8 R Wooster (680_CR1) 2003; 23 A Ganguly (680_CR12) 1993; 90 CI Szabo (680_CR3) 1997; 60 680_CR16 SL Neuhausen (680_CR5) 1996; 58 O Diez (680_CR13) 2003; 22 680_CR11 |
| References_xml | – volume: 23 start-page: 2339 year: 2003 end-page: 2347 ident: CR1 article-title: Breast and ovarian cancer publication-title: N Engl J Med doi: 10.1056/NEJMra012284 contributor: fullname: Webwe – volume: 112 start-page: 353 year: 2008 end-page: 358 ident: CR17 article-title: Genetic analysis of BRCA1 and BRCA2 in breast/ovarian cancer families from Aragon (Spain): two novel truncating mutations and a large genomic deletion in BRCA1 publication-title: Breast Cancer Res Treat doi: 10.1007/s10549-007-9868-1 contributor: fullname: Rodriguez – volume: 60 start-page: 1013 year: 1997 end-page: 1020 ident: CR3 article-title: Population genetics of BRCA1 and BRCA2 publication-title: Am J Hum Genet contributor: fullname: King – volume: 279 start-page: 922 year: 1998 end-page: 929 ident: CR2 article-title: BRCA1 mutations and breast cancer in the general population: analyses in women before age 35 years and in women before age 45 years with first-degree family history publication-title: JAMA doi: 10.1001/jama.279.12.922 contributor: fullname: Thompson – volume: 51 start-page: 611 year: 2006 end-page: 617 ident: CR15 article-title: High proportion of novel mutations of BRCA1 and BRCA2 in breast/ovarian cancer patients from Castilla-León (central Spain) publication-title: J Hum Genet doi: 10.1007/s10038-006-0404-7 contributor: fullname: Esteban-Cardeñosa – volume: 90 start-page: 10325 year: 1993 end-page: 10329 ident: CR12 article-title: Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes publication-title: Proc Natl Acad Sci USA doi: 10.1073/pnas.90.21.10325 contributor: fullname: Prockop – ident: CR16 – volume: 266 start-page: 66 year: 1994 end-page: 71 ident: CR10 article-title: A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1 publication-title: Science doi: 10.1126/science.7545954 contributor: fullname: Shattuck-Eidens – ident: CR11 – ident: CR9 – volume: 112 start-page: 69 year: 2007 end-page: 73 ident: CR7 article-title: Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families of Eastern Spain publication-title: Breast Cancer Res Treat doi: 10.1007/s10549-007-9818-y contributor: fullname: Palanca – ident: CR8 – volume: 22 start-page: 301 year: 2003 end-page: 312 ident: CR13 article-title: Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects publication-title: Hum Mutat doi: 10.1002/humu.10260 contributor: fullname: Duran – volume: 58 start-page: 271 year: 1996 end-page: 280 ident: CR5 article-title: Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study publication-title: Am J Hum Genet contributor: fullname: Friedman – volume: 8 start-page: 392 year: 1994 end-page: 398 ident: CR4 article-title: Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families publication-title: Nat Genet doi: 10.1038/ng1294-392 contributor: fullname: Durocher – volume: 130 start-page: 121 year: 2008 end-page: 126 ident: CR6 article-title: Mutaciones de BRCA1 y BRCA2 en familias estudiadas en el Programa de Consejo Genético en el Cáncer de la Comunidad Valenciana publication-title: Med Clin (Barc) doi: 10.1157/13115767 contributor: fullname: Palanca – volume: 106 start-page: 255 year: 2007 end-page: 262 ident: CR14 article-title: Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the Basque country with respect to the Spanish population: implications for genetic counselling publication-title: Breast Cancer Res Treat doi: 10.1007/s10549-006-9489-0 contributor: fullname: Guerra – volume: 58 start-page: 271 year: 1996 ident: 680_CR5 publication-title: Am J Hum Genet contributor: fullname: SL Neuhausen – volume: 112 start-page: 69 year: 2007 ident: 680_CR7 publication-title: Breast Cancer Res Treat doi: 10.1007/s10549-007-9818-y contributor: fullname: E Esteban – volume: 22 start-page: 301 year: 2003 ident: 680_CR13 publication-title: Hum Mutat doi: 10.1002/humu.10260 contributor: fullname: O Diez – volume: 51 start-page: 611 year: 2006 ident: 680_CR15 publication-title: J Hum Genet doi: 10.1007/s10038-006-0404-7 contributor: fullname: M Infante – ident: 680_CR9 – ident: 680_CR8 – volume: 90 start-page: 10325 year: 1993 ident: 680_CR12 publication-title: Proc Natl Acad Sci USA doi: 10.1073/pnas.90.21.10325 contributor: fullname: A Ganguly – volume: 23 start-page: 2339 year: 2003 ident: 680_CR1 publication-title: N Engl J Med doi: 10.1056/NEJMra012284 contributor: fullname: R Wooster – volume: 106 start-page: 255 year: 2007 ident: 680_CR14 publication-title: Breast Cancer Res Treat doi: 10.1007/s10549-006-9489-0 contributor: fullname: E Beristain – volume: 8 start-page: 392 year: 1994 ident: 680_CR4 publication-title: Nat Genet doi: 10.1038/ng1294-392 contributor: fullname: J Simard – volume: 60 start-page: 1013 year: 1997 ident: 680_CR3 publication-title: Am J Hum Genet contributor: fullname: CI Szabo – volume: 266 start-page: 66 year: 1994 ident: 680_CR10 publication-title: Science doi: 10.1126/science.7545954 contributor: fullname: Y Miki – volume: 279 start-page: 922 year: 1998 ident: 680_CR2 publication-title: JAMA doi: 10.1001/jama.279.12.922 contributor: fullname: KE Malone – volume: 112 start-page: 353 year: 2008 ident: 680_CR17 publication-title: Breast Cancer Res Treat doi: 10.1007/s10549-007-9868-1 contributor: fullname: MD Miramar – ident: 680_CR11 – volume: 130 start-page: 121 year: 2008 ident: 680_CR6 publication-title: Med Clin (Barc) doi: 10.1157/13115767 contributor: fullname: E Esteban – ident: 680_CR16 |
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| SubjectTerms | Biological and medical sciences Breast cancer Cancer research DNA Mutational Analysis Female Genes, BRCA1 Genes, BRCA2 Genetic Predisposition to Disease Gynecology. Andrology. Obstetrics Humans Incidence Letter to the Editor Male Mammary gland diseases Medical sciences Medicine Medicine & Public Health Mutation Oncology Ovarian cancer Polymerase Chain Reaction Spain - epidemiology Tumors |
| Title | Broad BRCA1 and BRCA2 mutational spectrum and high incidence of recurrent and novel mutations in the eastern Spain population |
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