Skip to main content

Advertisement

SpringerLink
Log in

Lack of large genomic deletions in BRIP1, PALB2, and FANCD2 genes in BRCA1/2 negative familial breast cancer

  • Letter to the editor
  • Published:
Breast Cancer Research and Treatment Aims and scope Submit manuscript

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

Access this article

Log in via an institution

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

Instant access to the full article PDF.

Institutional subscriptions

References

  1. Alter BP (2003) Cancer in Fanconi anemia, 1927–2001. Cancer 97:425–440. doi:10.1002/cncr.11046

    Article  PubMed  Google Scholar 

  2. Anglian Breast Cancer Study Group (2000) Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group. Br J Cancer 83:1301–1308. doi:10.1054/bjoc.2000.1407

    Article  Google Scholar 

  3. Bridge WL, Vandenberg CJ, Franklin RJ et al (2005) The BRIP1 helicase functions independently of BRCA1 in the Fanconi anemia pathway for DNA crosslink repair. Nat Genet 37:953–957. doi:10.1038/ng1627

    Article  CAS  PubMed  Google Scholar 

  4. Cao AY, Huang J, Hu Z et al (2009) The prevalence of PALB2 germline mutations in BRCA1/BRCA2 negative Chinese women with early onset breast cancer or affected relatives. Breast Cancer Res Treat 114:457–462. doi:10.1007/s10549-008-0036-z

    Article  CAS  PubMed  Google Scholar 

  5. Erkko H, Xia B, Nikkila J et al (2007) A recurrent mutation in PALB2 in Finnish cancer families. Nature 446:316–319. doi:10.1038/nature05609

    Article  CAS  PubMed  Google Scholar 

  6. Foulkes WD, Ghadirian P, Akbari MR et al (2007) Identification of a novel truncating PALB2 mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women. Breast Cancer Res 9:R83. doi:10.1186/bcr1828

    Article  PubMed  Google Scholar 

  7. Garcia MJ, Fernandez V, Osorio A et al (2008) Analysis of FANCB and FANCN/PALB2 Fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families. Breast Cancer Res Treat 113:545–551. doi:10.1007/s10549-008-9945-0

    Article  PubMed  Google Scholar 

  8. Giardiello FM, Brensinger JD, Tersmette AC et al (2000) Very high risk of cancer in familial Peutz–Jeghers syndrome. Gastroenterology 119:1447–1453. doi:10.1053/gast.2000.20228

    Article  CAS  PubMed  Google Scholar 

  9. Gunnarsson H, Arason A, Gillanders EM et al (2008) Evidence against PALB2 involvement in Icelandic breast cancer susceptibility. J Negat Results Biomed 7:5. doi:10.1186/1477-5751-7-5

    Article  PubMed  Google Scholar 

  10. Houghtaling S, Timmers C, Noll M et al (2003) Epithelial cancer in Fanconi anemia complementation group D2 (Fancd2) knockout mice. Genes Dev 17:2021–2035. doi:10.1101/gad.1103403

    Article  CAS  PubMed  Google Scholar 

  11. Howlett NG, Taniguchi T, Olson S et al (2002) Biallelic inactivation of BRCA2 in Fanconi anemia. Science 297:606–609. doi:10.1126/science.1073834

    Article  CAS  PubMed  Google Scholar 

  12. Levitus M, Waisfisz Q, Godthelp BC et al (2005) The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. Nat Genet 37:934–935. doi:10.1038/ng1625

    Article  CAS  PubMed  Google Scholar 

  13. Levran O, Attwooll C, Henry RT et al (2005) The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. Nat Genet 37:931–933. doi:10.1038/ng1624

    Article  CAS  PubMed  Google Scholar 

  14. Lewis AG, Flanagan J, Marsh A et al (2005) Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer. Breast Cancer Res 7:R1005–R1016. doi:10.1186/bcr1336

    Article  CAS  PubMed  Google Scholar 

  15. Lynch ED, Ostermeyer EA, Lee MK et al (1997) Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis. Am J Hum Genet 61:1254–1260. doi:10.1086/301639

    Article  CAS  PubMed  Google Scholar 

  16. Malkin D, Li FP, Strong LC et al (1990) Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 250:1233–1238. doi:10.1126/science.1978757

    Article  CAS  PubMed  Google Scholar 

  17. Mathew CG (2006) Fanconi anaemia genes and susceptibility to cancer. Oncogene 25:5875–5884. doi:10.1038/sj.onc.1209878

    Article  CAS  PubMed  Google Scholar 

  18. Meijer GA (2007) The 13th Fanconi anemia gene identified: FANCI—importance of the ‘Fanconi anemia pathway’ for cellular oncology. Cell Oncol 29:181–182

    CAS  PubMed  Google Scholar 

  19. Oldenburg RA, Meijers-Heijboer H, Cornelisse CJ et al (2007) Genetic susceptibility for breast cancer: how many more genes to be found? Crit Rev Oncol Hematol 63:125–149. doi:10.1016/j.critrevonc.2006.12.004

    Article  CAS  PubMed  Google Scholar 

  20. Pylkas K, Erkko H, Nikkila J et al (2008) Analysis of large deletions in BRCA1, BRCA2 and PALB2 genes in Finnish breast and ovarian cancer families. BMC Cancer 8:146. doi:10.1186/1471-2407-8-146

    Article  PubMed  Google Scholar 

  21. Rahman N, Scott RH (2007) Cancer genes associated with phenotypes in monoallelic and biallelic mutation carriers: new lessons from old players. Hum Mol Genet 16:60–66 Spec No 1:

    Article  Google Scholar 

  22. Rahman N, Seal S, Thompson D et al (2007) PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet 39:165–167. doi:10.1038/ng1959

    Article  CAS  PubMed  Google Scholar 

  23. Reid S, Schindler D, Hanenberg H et al (2007) Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. Nat Genet 39:162–164. doi:10.1038/ng1947

    Article  CAS  PubMed  Google Scholar 

  24. Renwick AD, Thompson S, Seal P et al (2006) ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet 38:873–875. doi:10.1038/ng1837

    Article  CAS  PubMed  Google Scholar 

  25. Schouten JP, McElgunn CJ, Waaijer R et al (2002) Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 30:e57. doi:10.1093/nar/gnf056

    Article  PubMed  Google Scholar 

  26. Seal S, Barfoot R, Jayatilake H et al (2003) Evaluation of Fanconi anemia genes in familial breast cancer predisposition. Cancer Res 63:8596–8599

    CAS  PubMed  Google Scholar 

  27. Seal S, Thompson D, Renwick A et al (2006) Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet 38:1239–1241. doi:10.1038/ng1902

    Article  CAS  PubMed  Google Scholar 

  28. The CHEK2 Breast Cancer Case-Control Consortium (2004) CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10, 860 breast cancer cases and 9, 065 controls from 10 studies. Am J Hum Genet 74:1175–1182. doi:10.1086/421251

    Article  Google Scholar 

  29. Tischkowitz M, Sabbaghian N, Ray AM et al (2008) Analysis of the gene coding for the BRCA2-interacting protein PALB2 in hereditary prostate cancer. Prostate 68:675–678. doi:10.1002/pros.20729

    Article  PubMed  Google Scholar 

  30. Van der Hout AH, van den Ouweland AM, van der Luijt RB et al (2006) A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting. Hum Mutat 27:654–666. doi:10.1002/humu.20340

    Article  PubMed  Google Scholar 

  31. Wang W (2007) Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins. Nat Rev Genet 8:735–748. doi:10.1038/nrg2159

    Article  CAS  PubMed  Google Scholar 

  32. Xia B, Dorsman JC, Ameziane N et al (2007) Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. Nat Genet 39:159–161. doi:10.1038/ng1942

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Clinical Genetics, Section Oncogenetics, VU University Medical Center, Van der Boechorststraat 7, 1081 BT, Amsterdam, The Netherlands

    Najim Ameziane, Muriel A. Adank, Josephine C. Dorsman, Hans Joenje, Hanne Meijers-Heijboer & Quinten Waisfisz

  2. Department of Clinical Genetics, Erasmus Medical Center, Westzeedijk 112, 3016 AH, Rotterdam, The Netherlands

    Ans M. W. van den Ouweland

  3. MRC-Holland, Willem Schoutenstraat 6, 1057 DN, Amsterdam, The Netherlands

    Raymond N. C. P. Vijzelaar & Abdellatif Errami

Authors
  1. Najim Ameziane
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Ans M. W. van den Ouweland
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Muriel A. Adank
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Raymond N. C. P. Vijzelaar
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Abdellatif Errami
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Josephine C. Dorsman
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Hans Joenje
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Hanne Meijers-Heijboer
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Quinten Waisfisz
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Quinten Waisfisz.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Ameziane, N., van den Ouweland, A.M.W., Adank, M.A. et al. Lack of large genomic deletions in BRIP1, PALB2, and FANCD2 genes in BRCA1/2 negative familial breast cancer. Breast Cancer Res Treat 118, 651–653 (2009). https://doi.org/10.1007/s10549-009-0428-8

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10549-009-0428-8

Keywords

Search

Navigation