Skip to main content

Advertisement

Log in

CHEK2 c.1100delC mutation among non-BRCA1/2 Spanish hereditary breast cancer families

  • Correspondence
  • Published:
Clinical and Translational Oncology Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

References

  1. The CHEK2-Breast Cancer Consortium (2002) Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 31(1):55–59

    Article  Google Scholar 

  2. Desrichard A, Bidet Y, Uhrhammer N, Bignon Y-J (2011) CHEK2 contribution to hereditary breast cancer in non-BRCA families. Breast Cancer Res 13(6):R119

    Article  PubMed  CAS  Google Scholar 

  3. Osorio A, Rodríguez-López R, Díez O, de la Hoya M, Ignacio Martínez J, Vega A, Esteban-Cardeñosa E, Alonso C, Caldés T, Benítez J (2004) The breast cancer low-penetrance allele 1100delC in the CHEK2 gene is not present in Spanish familial breast cancer population. Int J Cancer 108(1):54–56

  4. Martínez-Bouzas C, Beristain E, Guerra I, Gorostiaga J, Mendizabal J-L, De-Pablo J-L, García-Alegría E, Sanz-Parra A, Tejada M-I (2007) CHEK2 1100delC is present in familial breast cancer cases of the Basque Country. Breast Cancer Res Treat 103(1):111–113

    Article  PubMed  Google Scholar 

  5. Gutiérrez-Enríquez S, Balmaña J, Baiget M, Díez O (2008) Detection of the CHEK2 1100delC mutation by MLPA BRCA1/2 analysis: a worthwhile strategy for its clinical applicability in 1100delC low-frequency populations? Breast Cancer Res Treat 107(3):455–457

    Article  PubMed  Google Scholar 

  6. Vega A, Campos B, Bressac-de-Paillerets B, Bond PM, Janin N, Douglas FS, Domènech M, Baena M, Pericay C, Alonso C, Carracedo A, Baiget M, Diez O (2001) The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript. Hum Mutat 17(6):520–521

    Article  PubMed  CAS  Google Scholar 

  7. Fachal L, Rodríguez-Pazos L, Ginarte M, Toribio J, Salas A, Vega A (2012) Multiple local and recent founder effects of TGM1 in Spanish families. PLoS One 7(4):e33580

    Article  PubMed  CAS  Google Scholar 

  8. Vega A, Torres M, Martínez JI, Ruiz-Ponte C, Barros F, Carracedo A (2002) Analysis of BRCA1 and BRCA2 in breast and breast/ovarian cancer families shows population substructure in the Iberian peninsula. Ann Hum Genet 66(1):29–36

    Article  PubMed  CAS  Google Scholar 

  9. Adank MA, Jonker MA, Kluijt I, van Mil SE, Oldenburg RA, Mooi WJ, Hogervorst FBL, van den Ouweland AMW, Gille JJP, Schmidt MK, van der Vaart AW, Meijers-Heijboer H, Waisfisz Q (2011) CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women. J Med Genet 48(12):860–863

    Article  PubMed  CAS  Google Scholar 

  10. Narod SA (2010) Testing for CHEK2 in the cancer genetics clinic: ready for prime time? Clin Genet 78(1):1–7

    Article  PubMed  CAS  Google Scholar 

  11. Caligo MA, Agata S, Aceto G, Crucianelli R, Manoukian S, Peissel B, Scaini MC, Sensi E, Veschi S, Cama A, Radice P, Viel A, D’Andrea E, Montagna M (2004) The CHEK2 c.1100delC mutation plays an irrelevant role in breast cancer predisposition in Italy. Hum Mutat 24(1):100–101

    Article  PubMed  CAS  Google Scholar 

  12. Konecny M, Milly M, Zavodna K, Weismanova E, Gregorova J, Mlkva I, Ilencikova D, Kausitz J, Bartosova Z (2011) Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia. Breast Cancer Res Treat 126(1):119–130

    Article  PubMed  CAS  Google Scholar 

Download references

Acknowledgments

We are grateful to all participating patients for their cooperation. L.F. is supported by the Isabel Barreto program from Xunta de Galicia and Fondo Social Europeo. This work was supported by grants of the Xunta de Galicia (10 PXIB 9101 297 PR) and Fundación Mutua Madrileña given to AV.

Conflict of interest

The authors declare that they have no conflicts of interest.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to A. Vega.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Fachal, L., Santamariña, M., Blanco, A. et al. CHEK2 c.1100delC mutation among non-BRCA1/2 Spanish hereditary breast cancer families. Clin Transl Oncol 15, 164–165 (2013). https://doi.org/10.1007/s12094-012-0967-z

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12094-012-0967-z

Keywords

Navigation