Breast Cancer Research and Treatment

, Volume 121, Issue 1, pp 221–225 | Cite as

A novel de novo BRCA2 mutation of paternal origin identified in a Spanish woman with early onset bilateral breast cancer

  • Orland DiezEmail author
  • Sara Gutiérrez-Enríquez
  • Carmen Mediano
  • Miriam Masas
  • Cristina Saura
  • Neus Gadea
  • Judith Balmaña
Brief Report


Germ line mutations in either of the two major breast cancer predisposition genes, BRCA1 and BRCA2, account for a significant proportion of hereditary breast/ovarian cancer. Identification of breast cancer patients carrying mutations in any of these genes is primarily based on a positive family history of breast/ovarian cancer or early onset of the disease. In the course of mutation screening of the BRCA1 and BRCA2 genes in a hospital based series of patients with risk factors for hereditary breast/ovarian cancer, we identified a novel germ line mutation in the BRCA2 gene (c.51dupA) in a patient with early onset bilateral breast cancer and no family history of the disease. None of her parents carried the mutation, and paternity was confirmed. Subsequent molecular analysis demonstrated that the mutation was a novel de novo germ line mutation located in the paternal allele of the BRCA2 gene.


BRCA2 De novo mutation Hereditary breast cancer 



This work was in part funded by a grant from Fundación de Investigación Médica Mutua Madrileña.


  1. 1.
    Easton DF, Ford D, Bishop DT (1995) Breast and ovarian cancer incidence in BRCA1 mutation carriers. Breast cancer linkage consortium. Am J Hum Genet 56:265–271PubMedGoogle Scholar
  2. 2.
    Easton DF, Steele L, Fields P, Ormiston W, Averill D, Daly PA, McManus R, Neuhausen SL, Ford D, Wooster R, Cannon-Albright LA, Stratton MR et al (1997) Cancer risks in two large breast cancer families linked to BRCA2 on chromosome 13q12–13. Am J Hum Genet 61:120–128CrossRefPubMedGoogle Scholar
  3. 3.
    Weitzel JN, Lagos VI, Cullinane CA, Gambol PJ, Culver JO, Blazer KR, Palomares MR, Lowstuter KJ, MacDonald DJ (2007) Limited family structure and BRCA gene mutation status in single cases of breast cancer. JAMA 297:2587–2595CrossRefPubMedGoogle Scholar
  4. 4.
    Young SR, Pilarski T, Donenberg T, Shapiro C, Hammond LS, Miller J et al. (2009) The prevalence of BRCA1 mutations among young women with triple-negative breast cancer. BMC Cancer 9:86 doi: 10.1186/1471-2407-9-86 Google Scholar
  5. 5.
  6. 6.
    Tesoriero A, Andersen C, Southey M, Somers G, McKay M, Armes J, McCredie M, Giles G, Hopper JL, Venter D (1999) De novo BRCA1 mutation in a patient with breast cancer and an inherited BRCA2 mutation. Am J Hum Genet 65:567–569CrossRefPubMedGoogle Scholar
  7. 7.
    Robson M, Scheuer L, Nafa K, Ellis N, Offit K (2002) Unique de novo mutation of BRCA2 in a woman with early onset breast cancer. J Med Genet 39:126–128CrossRefPubMedGoogle Scholar
  8. 8.
    van der Luijt RB, van Zon PH, Jansen RP, van der Sijs-Bos CJ, Warlam-Rodenhuis CC, Ausems MG (2001) De novo recurrent germline mutation of the BRCA2 gene in a patient with early onset breast cancer. J Med Genet 38:102–105CrossRefPubMedGoogle Scholar
  9. 9.
    Hansen TVO, Bisgaard ML, Jønson L, Albrechtsen A, Filtenborg-Barnkob B, Eiberg H, EjlertsenB NielsenFC (2008) Novel de novo BRCA2 mutation in a patient with a family history of breast cancer. BMC Medical Genetics 9:58CrossRefPubMedGoogle Scholar
  10. 10.
    Carlson KM, Bracamontes J, Jackson CE, Clark R, Lacroix A, Wells SA Jr, Goodfellow PJ (1994) Parent-of-origin effects in multiple endocrine neoplasia type 2B. Hum Genet 55:1076–1082Google Scholar
  11. 11.
    Kato MV, Ishizaki K, Shimizu T, Ejima Y, Tanooka H, Takayama J, Kaneko A, Toguchida J, Sasaki MS (1994) Parental origin of germ-line and somatic mutations in the retinoblastoma gene. Hum Genet 94:31–38CrossRefPubMedGoogle Scholar
  12. 12.
    Richards FM, Payne SJ, Zbar B, Affara NA, Ferguson-Smith MA, Maher ER (1995) Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene. Hum Mol Genet 4:2139–2143CrossRefPubMedGoogle Scholar
  13. 13.
    de Sanjosé S, Leone M, Berez V et al (2003) Prevalence of BRCA1 and BRCA2 germline mutations in young breast cancer patients: a population-based study. Int J Cancer 106:588–593CrossRefPubMedGoogle Scholar
  14. 14.
    Lidereau R, Eisinger F, Champeme MH, Nogues C, Bieche I, Birnbaum D, Pallud C, Jacquemier J, Sobol H (2000) Major improvement in the efficacy of BRCA1 mutation screening using morphoclinical features of breast cancer. Cancer Res 60:1206–1210PubMedGoogle Scholar
  15. 15.
    Peto J, Collins N, Barfoot R, Seal S, Warren W, Rahman N, Easton DF, Evans C, Deacon J, Stratton MR (1999) Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer. J Natl Cancer Inst 91:943–949CrossRefPubMedGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC. 2009

Authors and Affiliations

  • Orland Diez
    • 1
    • 2
    Email author
  • Sara Gutiérrez-Enríquez
    • 2
  • Carmen Mediano
    • 3
  • Miriam Masas
    • 1
  • Cristina Saura
    • 4
  • Neus Gadea
    • 4
  • Judith Balmaña
    • 4
  1. 1.Oncogenetics LaboratoryUniversity Hospital Vall d’HebronBarcelonaSpain
  2. 2.Vall d’Hebron Institute of Oncology (VHIO)BarcelonaSpain
  3. 3.Genetics UnitUniversity Hospital Vall d’HebronBarcelonaSpain
  4. 4.Medical Oncology DepartmentUniversity Hospital Vall d’HebronBarcelonaSpain

Personalised recommendations