Is early onset breast cancer with no family history a good criterion for testing BRCA1 and BRCA2 genes? A small population-based study

Clinical Genetics

Volumn 75, Issue 6, 2009, Pages 576-578

  Beristain, E ^a   Martinez Bouzas C ^a   Mallabiabarrena, G ^a   Tejada, Maria Isabel ^a  

^a HOSPITAL DE CRUCES   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

ADULT; BREAST CANCER; DNA POLYMORPHISM; EXON; FAMILY HISTORY; FEMALE; GENE DELETION; GENE SEGREGATION; HUMAN; LETTER; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; ONSET AGE; POPULATION RESEARCH; PRIORITY JOURNAL;

AGE OF ONSET; BREAST NEOPLASMS; COST-BENEFIT ANALYSIS; DNA; FEMALE; GENES, BRCA1; GENES, BRCA2; HUMANS; SPAIN;

EID: 66549088500     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.01137.x     Document Type: Letter

References (14)

1. Loizidou M, Marcou Y, Anastasiadou V, Newbold R, Hadjisavvas A, Kyriacou K. Contribution of BRCA1 and BRCA2 germline mutations to the incidence of early-onset breast cancer in Cyprus. Clin Genet 2007: 71: 165-170.
2. Beristain E, Martínez-Bouzas C, Guerra I et al. 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 2007: 106: 255-262.
3. Thomassen M, Kruse T, Jensen P, Gerdes AM. A missense mutation in exon 13 in BRCA2, c.7235G>A, results in skipping of exon 13. Genetic Testing 2006: 10 (2): 116-120.
4. Buratti E, Baralle M, Baralle FE. Defective splicing, disease and therapy: Searching for master checkpoints in exon definition. Nucleic Acids Research 2006: 34 (12): 3494-3510.
5. NNSPLICE. http://www.fruitfly.org/seq_tools/splice.html [accessed on 6 November 2008]
6. Polyphen. http://genetics.bwh.harvard.edu/pph/ [accessed on 12 August 2008]
7. SIFT. http://blocks.fhcrc.org/sift/SIFT.html [accessed January 2007]
8. NetGene2. http://www.cbs.dtu.dk/services/NetGene2/ [accessed on 5 September 2008]
9. Musolino A, Bella MA, Bortesi B et al. BRCA mutations, molecular markers, and clinical variables in early-onset breast cancer: A population-based study. Breast 2007: 16: 280-292.
10. Pohlreich P, Zikan M, Stribrna J et al. High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area. Breast Cancer Res 2005: 7 (5): R728-736.
11. de Sanjosé S, Léoné M, Bérez V et al. Prevalence of BRCA1 and BRCA2 germline mutations in young breast cancer patients: A population-based study. Int J Cancer 2003: 106 (4): 588-593.
12. Infante M, Durán M, Esteban-Cardeñosa E, Miner C, Velasco E. High proportion of novel mutations of BRCA1 and BRCA2 in breast/ ovarian cancer patients from Castilla-León (Central Spain). J Human Genet 2006: 51 (7): 611-617.
13. HGVS. http://www.hgvs.org/ [accessed on 11 November 2008]
14. BIC. http://research.nhgri.nih.gov/bic/ [accessed on 5 April 2007]