A PALB2 germline mutation associated with hereditary breast cancer in Italy - PubMed (original) (raw)

A PALB2 germline mutation associated with hereditary breast cancer in Italy

Laura Papi et al. Fam Cancer. 2010 Jun.

Abstract

Recently, it has been demonstrated that monoallelic PALB2 mutations predispose to familial breast cancer. We investigated the contribution of PALB2 mutations in a set of 132 Italian BRCA1/BRCA2-negative breast cancer families; one truncating PALB2 mutation, c.2257C>T, resulting in p.Arg753X, was identified in a woman and her daughter, with breast cancer diagnosed at 60 and 31 years old, respectively. This study supports the recent observation that PALB2 mutation are present, although infrequently, in familial BRCA1/BRCA2-negative breast cancer cases; moreover, it sustains latest evidences that some PALB2 mutations are associated with a substantially increased risk of breast cancer.

PubMed Disclaimer

Similar articles

• Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy.
  Ghiorzo P, Pensotti V, Fornarini G, Sciallero S, Battistuzzi L, Belli F, Bonelli L, Borgonovo G, Bruno W, Gozza A, Gargiulo S, Mastracci L, Nasti S, Palmieri G, Papadia F, Pastorino L, Russo A, Savarino V, Varesco L, Bernard L, Bianchi Scarrà G; Genoa Pancreatic Cancer Study Group. Ghiorzo P, et al. Fam Cancer. 2012 Mar;11(1):41-7. doi: 10.1007/s10689-011-9483-5. Fam Cancer. 2012. PMID: 21989927
• Whole-exome sequencing and targeted gene sequencing provide insights into the role of PALB2 as a male breast cancer susceptibility gene.
  Silvestri V, Zelli V, Valentini V, Rizzolo P, Navazio AS, Coppa A, Agata S, Oliani C, Barana D, Castrignanò T, Viel A, Russo A, Tibiletti MG, Zanna I, Masala G, Cortesi L, Manoukian S, Azzollini J, Peissel B, Bonanni B, Peterlongo P, Radice P, Palli D, Giannini G, Chillemi G, Montagna M, Ottini L. Silvestri V, et al. Cancer. 2017 Jan 1;123(2):210-218. doi: 10.1002/cncr.30337. Epub 2016 Sep 20. Cancer. 2017. PMID: 27648926
• Evaluation of the need for routine clinical testing of PALB2 c.1592delT mutation in BRCA negative Northern Finnish breast cancer families.
  Haanpää M, Pylkäs K, Moilanen JS, Winqvist R. Haanpää M, et al. BMC Med Genet. 2013 Aug 13;14:82. doi: 10.1186/1471-2350-14-82. BMC Med Genet. 2013. PMID: 23941127 Free PMC article.
• PALB2/FANCN: recombining cancer and Fanconi anemia.
  Tischkowitz M, Xia B. Tischkowitz M, et al. Cancer Res. 2010 Oct 1;70(19):7353-9. doi: 10.1158/0008-5472.CAN-10-1012. Epub 2010 Sep 21. Cancer Res. 2010. PMID: 20858716 Free PMC article. Review.
• The risk of breast cancer due to PALB2 gene mutations.
  Wesoła M, Jeleń M. Wesoła M, et al. Adv Clin Exp Med. 2017 Mar-Apr;26(2):339-342. doi: 10.17219/acem/59147. Adv Clin Exp Med. 2017. PMID: 28791855 Review. No abstract available.

Cited by

• Sequencing analysis of SLX4/FANCP gene in Italian familial breast cancer cases.
  Catucci I, Colombo M, Verderio P, Bernard L, Ficarazzi F, Mariette F, Barile M, Peissel B, Cattaneo E, Manoukian S, Radice P, Peterlongo P. Catucci I, et al. PLoS One. 2012;7(2):e31038. doi: 10.1371/journal.pone.0031038. Epub 2012 Feb 23. PLoS One. 2012. PMID: 22383991 Free PMC article.
• PALB2: a novel inactivating mutation in a Italian breast cancer family.
  Balia C, Sensi E, Lombardi G, Roncella M, Bevilacqua G, Caligo MA. Balia C, et al. Fam Cancer. 2010 Dec;9(4):531-6. doi: 10.1007/s10689-010-9382-1. Fam Cancer. 2010. PMID: 20852946
• PALB2 and breast cancer: ready for clinical translation!
  Southey MC, Teo ZL, Winship I. Southey MC, et al. Appl Clin Genet. 2013 Jul 19;6:43-52. doi: 10.2147/TACG.S34116. Print 2013. Appl Clin Genet. 2013. PMID: 23935381 Free PMC article.
• A population-based study of DNA repair gene variants in relation to non-melanoma skin cancer as a marker of a cancer-prone phenotype.
  Ruczinski I, Jorgensen TJ, Shugart YY, Schaad YB, Kessing B, Hoffman-Bolton J, Helzlsouer KJ, Kao WH, Wheless L, Francis L, Alani RM, Strickland PT, Smith MW, Alberg AJ. Ruczinski I, et al. Carcinogenesis. 2012 Sep;33(9):1692-8. doi: 10.1093/carcin/bgs170. Epub 2012 May 11. Carcinogenesis. 2012. PMID: 22581838 Free PMC article.
• Inherited and acquired alterations in development of breast cancer.
  Rizzolo P, Silvestri V, Falchetti M, Ottini L. Rizzolo P, et al. Appl Clin Genet. 2011 Nov 14;4:145-58. doi: 10.2147/TACG.S13226. Print 2011. Appl Clin Genet. 2011. PMID: 23776375 Free PMC article.

References

1. 1. Hum Mutat. 2005 Apr;25(4):334-42 - PubMed
2. 1. Nature. 2007 Mar 15;446(7133):316-9 - PubMed
3. 1. Breast Cancer Res Treat. 2009 Feb;113(3):545-51 - PubMed
4. 1. Breast Cancer Res Treat. 2009 Apr;114(3):457-62 - PubMed
5. 1. Clin Cancer Res. 2008 Jul 15;14(14):4667-71 - PubMed

Publication types

MeSH terms

Substances

LinkOut - more resources

• Full Text Sources

  • Ovid Technologies, Inc.
  • Springer

• Medical

  • MedlinePlus Health Information

• Research Materials

  • NCI CPTC Antibody Characterization Program

• Miscellaneous

  • NCI CPTAC Assay Portal