PALB2 sequence variants in young South African breast cancer patients (original) (raw)
Ferlay J, Bray F, Pisani P, Parkin DM (2004) Cancer incidence, mortality and prevalence worldwide. GLOBOCAN 2002, IARC cancerbase No. 5, version 2.0. IARCPress, Lyon Google Scholar
Mqoqi N, Kellet P, Madhoo J, Sitas F (2004) Incidence of histologically diagnosed cancer in South Africa, 1998–1999. National Cancer Registry of South Africa, National Health Laboratory Service, Johannesburg Google Scholar
Miki Y, Swenson J, Shattuck-Eidens D et al (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266:66–71 ArticleCASPubMed Google Scholar
Wooster R, Bignell G, Lancaster J et al (1995) Identification of the breast cancer susceptibility gene BRCA2. Nature 378:789–791 ArticleCASPubMed Google Scholar
Reeves MD, Yawitch TM, van der Merwe NC et al (2004) BRCA1 mutations in South African breast and/or ovarian cancer families: evidence of a novel founder mutation in Afrikaner families. Int J Cancer 110:667–682 Article Google Scholar
van Rensburg EJ, van der Merwe NC, Sluiter MD and Schlebusch CM (2007) Impact of the BRCA-genes on the burden of familial breast/ovarian cancer in South Africa [Abstract 382]. Presented at the annual meeting of the American Society of Human Genetics, October 2007, San Diego, California. Available from http://www.ashg.org/genetics/ashg07s/search_page-04.shtml
Venkitaraman AR (2004) Tracing the network connecting BRCA and Fanconi anaemia proteins. Nat Rev Cancer 4:266–276 ArticleCASPubMed Google Scholar
Xia B, Sheng Q, Nakanishi K et al (2006) Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2. Mol Cell 22:719–729 ArticleCASPubMed Google Scholar
Howlett NG, Taniguchi T, Olson S et al (2002) Biallelic inactivation of BRCA2 in Fanconi anemia. Science 297:606–609 ArticleCASPubMed Google Scholar
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 ArticleCASPubMed Google Scholar
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 ArticleCASPubMed Google Scholar
Kutler DI, Singh B, Satagopan J et al (2003) A 20-year perspective on the international Fanconi Anemia registry (IFAR). Blood 101:1249–1256 ArticleCASPubMed Google Scholar
Erkko H, Xia B, Nikkila J et al (2007) A recurrent mutation in PALB2 in Finnish cancer families. Nature 446:316–319 ArticleCASPubMed Google Scholar
Garcia MJ, Fernandez V, Osorio A et al (2009) 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 ArticleCASPubMed Google Scholar
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 ArticleCASPubMed Google Scholar
Tischkowitz M, Xia B, Sabbaghian N et al (2007) Analysis of PALB2/FANCN-associated breast cancer families. Proc Natl Acad Sci USA 104:6788–6793 ArticleCASPubMed Google Scholar
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 ArticlePubMed Google Scholar
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:10.007/s10549-008-0036-z ArticleCASPubMed Google Scholar
Johns MB Jr, Paulus-Thomas JE (1989) Purification of human genomic DNA from whole blood using sodium perchlorate in place of phenol. Anal Biochem 180:276–278 ArticleCASPubMed Google Scholar
Rozen S, Skaletsky H (2000) Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol 132:365–386 CASPubMed Google Scholar
den Dunnen JT, Antonarakis SE (2000) Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion. Hum Mutat 15:7–12 Article Google Scholar
Ng PC, Henikoff S (2003) SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res 31:3812–3814 ArticleCASPubMed Google Scholar
Tavtigian SV, Deffenbaugh AM, Yin L et al (2006) Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral. J Med Genet 43:295–305 ArticleCASPubMed Google Scholar
Tavtigan SV, Greenblatt MS, Lesueur F et al (2008) In silico analysis of missense substitutions using sequence-alignment based methods. Hum Mutat 29:1327–1336 Article Google Scholar
Armougom F, Moretti S, Poirot O et al (2006) Expresso: automatic incorporation of structural information in multiple sequence alignments using 3D-Coffee. Nucleic Acids Res 34:W604–W608 ArticleCASPubMed Google Scholar
Tischkowitz M, Easton DF, Ball J et al (2008) Cancer incidence in relatives of British Fanconi Anaemia patients. BMC Cancer 8:257–261 ArticlePubMed Google Scholar