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01-05-2010 | Letter to the Editor

Broad BRCA1 and BRCA2 mutational spectrum and high incidence of recurrent and novel mutations in the eastern Spain population

Authors: Eva Esteban Cardeñosa, Pascual Bolufer Gilabert, Inmaculada de Juan Jimenez, Sarai Palanca Suela, Eva Barragán González, Isabel Chirivella González, Ángel Segura Huerta, Carmen Guillén Ponce, Eduardo Martínez de Dueñas

Published in: Breast Cancer Research and Treatment | Issue 1/2010

Excerpt

To the Editor, …

Wooster R, Webwe BL (2003) Breast and ovarian cancer. N Engl J Med 23:2339–2347CrossRef

Malone KE, Daling JR, Thompson JD et al (1998) 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. JAMA 279:922–929CrossRefPubMed

Szabo CI, King MC (1997) Population genetics of BRCA1 and BRCA2. Am J Hum Genet 60:1013–1020PubMed

Simard J, Tonin P, Durocher F et al (1994) Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families. Nat Genet 8:392–398CrossRefPubMed

Neuhausen SL, Mazoyer S, Friedman L et al (1996) Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study. Am J Hum Genet 58:271–280PubMed

Esteban E, Bolufer P, Palanca S et al (2008) Mutaciones de BRCA1 y BRCA2 en familias estudiadas en el Programa de Consejo Genético en el Cáncer de la Comunidad Valenciana. Med Clin (Barc) 130:121–126CrossRef

Esteban E, Bolufer P, Palanca S et al (2007) Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families of Eastern Spain. Breast Cancer Res Treat 112:69–73CrossRef

FESEO. Tercer Libro Blanco de la Oncología. Federación de Sociedades Españolas de Oncología (Biete Solá A, Palacios Eito A, Calvo Manuel FA eds) (2002) FESEO, Madrid

Conselleria de Sanitat (2003) Programa de Consejo Genético en el Cáncer. Grupo de Cáncer Hereditario, Plan Oncológico, Comunidad Valenciana, Valencia

10.

Miki Y, Swensen J, Shattuck-Eidens D et al (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266:66–71CrossRefPubMed

11.

The Breast Cancer Information Core Database (BIC) http://research.nhgri.nih.gov/bic/Member/index.shtml. Accessed 17 Dec 2009

12.

Ganguly A, Rock MJ, Prockop DJ (1993) 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. Proc Natl Acad Sci USA 90:10325–10329CrossRefPubMed

13.

Diez O, Osorio A, Duran M et al (2003) 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. Hum Mutat 22:301–312CrossRefPubMed

14.

Beristain E, Martínez-Bouzas C, Guerra I et al (2007) 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. Breast Cancer Res Treat 106:255–262CrossRefPubMed

15.

Infante M, Duran M, Esteban-Cardeñosa E et al (2006) High proportion of novel mutations of BRCA1 and BRCA2 in breast/ovarian cancer patients from Castilla-León (central Spain). J Hum Genet 51:611–617CrossRefPubMed

16.

Berkeley Drosophila Genome Project: FruitFly, http://www.fruitfly.org/seq_tools/splice.html. Accessed 17 Dec 2009

17.

Miramar MD, Calvo MT, Rodriguez A et al (2008) 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. Breast Cancer Res Treat 112:353–358CrossRefPubMed

Title: Broad BRCA1 and BRCA2 mutational spectrum and high incidence of recurrent and novel mutations in the eastern Spain population
Authors: Eva Esteban Cardeñosa
Pascual Bolufer Gilabert
Inmaculada de Juan Jimenez
Sarai Palanca Suela
Eva Barragán González
Isabel Chirivella González
Ángel Segura Huerta
Carmen Guillén Ponce
Eduardo Martínez de Dueñas
Publication date: 01-05-2010
Publisher: Springer US
Published in: Breast Cancer Research and Treatment / Issue 1/2010
Print ISSN: 0167-6806
Electronic ISSN: 1573-7217
DOI: https://doi.org/10.1007/s10549-009-0680-y

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