Genome-wide linkage scan in Dutch hereditary non-BRCA1/2 breast cancer families identifies 9q21-22 as a putative breast cancer susceptibility locus

Genes Chromosomes and Cancer

Volumn 47, Issue 11, 2008, Pages 947-956

  Oldenburg, Rogier A ^a,b   Kroeze Jansema, Karin H G ^a   Houwing Duistermaat, Jeanine J ^a   Bayley, Jean Pierre ^a   Dambrot, Cheryl ^a   Van Asperen, Christi J ^a   Van Den Ouweland, Ans M W ^b   Bakker, Bert ^a   Van Beers, Erik H ^c   Nederlof, Petra M ^c   Vasen, Hans ^d   Hoogerbrugge, Nicoline ^e   Cornelisse, Cees J ^a   Meijers Heijboer, Hanne ^c   Devilee, Peter ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c NETHERLANDS CANCER INSTITUTE   (Netherlands)

^d Netherlands Foundation for the Detection of Hereditary Tumors   (Netherlands)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

ADULT; ARTICLE; BLOOD SAMPLING; BREAST CANCER; CANCER RISK; CANCER SUSCEPTIBILITY; CAUCASIAN; CHROMOSOME 9Q; GENE LOCUS; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC CODE; GENETIC LINKAGE; GENETIC RISK; GENOMICS; GENOTYPE; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; ONCOGENE; PRIORITY JOURNAL;

BRCA1 PROTEIN; BRCA2 PROTEIN; BREAST NEOPLASMS; CHROMOSOMES, HUMAN, PAIR 9; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME, HUMAN; HAPLOTYPES; HUMANS; LINKAGE (GENETICS); MUTATION; NETHERLANDS;

EID: 52249109545     PISSN: 10452257     EISSN: 10982264     Source Type: Journal    
DOI: 10.1002/gcc.20597     Document Type: Article

References (48)

1. Abecasis GR, Cherny SS, Cookson WO, Cardon LR. 2002. Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 30:97-101.
2. Antoniou AC, Pharoah PDP, McMullan G, Day NE, Stratton MR, Peto J, Ponder BJ, Easton DF. 2002. A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes. Br J Cancer 86:76-83.
3. Antoniou AC, Easton DF. 2003. Polygenic inheritance of breast cancer: Implications for design of association studies. Genet Epidemiol 25:190-202.
4. Barrett JC, Fry B, Maller J, Daly MJ. 2005. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21:263-265.
5. Bergman A, Karlsson P, Berggren J, Martinsson T, Bjorck K, Nilsson S, Wahlstrom J, Wallgren A, Nordling M. 2007. Genome-wide linkage scan for breast cancer susceptibility loci in Swedish hereditary non-BRCA1/2 families: suggestive linkage to 10q23.32-q25.3. Genes Chromosomes Cancer 46:302-309.
6. Broeks A, Urbanus JHM, De Knijff P, Devilee P, Nicke M, Klopper K, Dork T, Floore AN, Veer LJ. 2003. IVS10-6T > G, an ancient ATM germline mutation linked with breast cancer. Hum Mutat 21:521-528.
7. Chin K, DeVries S, Fridlyand J, Spellman PT, Roydasgupta R, Kuo WL, Lapuk A, Neve RM, Qian Z, Ryder T, Chen K, Feiler H, Tokuyasu T, Kingsley C, Dairkee S, Meng Z, Chew K, Pinkel D, Jain A, Ljung BM, Esserman L, Albertson DG, Waldman FM, Gray JW. 2006. Genomic and transcriptional aberrations linked to breast cancer pathophysiologies. Cancer Cell 10:529-541.
8. Claus EB, Risch N, Douglas W. 1991. Genetic analysis of breast cancer in the cancer and steroid hormone study. Am J Hum Genet 48:232-242.
9. Collaborative Group on Hormonal Factors in Breast Cancer. 2001. Familial breast cancer: Collaborative reanalysis of individual data from 52 epidemiological studies including 58209 women with breast cancer and 101986 women without the disease. Lancet 358:1389-1399.
10. Cui J, Antoniou AC, Dite GS, Southey MC, Venter DJ, Easton DF, Giles GG, McCredie MR, Hopper JL. 2001. After BRCA1 and BRCA2-What Next? Multifactorial segregation analyses of three-generation, population-based australian families affected by female breast cancer. Am J Hum Genet 68:420-431.
11. Easton D, Bishop D, Ford D, Crockford G, Breast Cancer Linkage Consortium. 1993. Genetic linkage analysis in familial breast and ovarian cancer: Results from 214 families. Am J Hum Genet 52:678-701.
12. Evans DM, Cardon LR. 2004. Guidelines for genotyping in genomewide linkage studies: single-nucleotide-polymorphism maps versus microsatellite maps. Am J Hum Genet 75:687-692.
13. Franke L, Bakel H, Fokkens L, de Jong ED, Egmont-Petersen M, Wijmenga C. 2006. Reconstruction of a functional human gene network, with an application for prioritizing positional candidate genes. Am J Hum Genet 78:1011-1025.
14. Gronwald J, Jauch A, Cybulski O, Schoell B, Bohm-Steuer B, Lener M, Grabowska E, Gorski B, Jakubowska A, Domagala W, Chosia M, Scott RJ, Lubinski J. 2005. Comparison of genomic abnormalities between BRCAX and sporadic breast cancers studied by comparative genomic hybridization. Int J Cancer 114:230-236.
15. Gruis NA, Van der Velden PA, Sandkuijl LA, Prins DE, Weaver-Feldhaus J, Kamb A, Bergman W, Frants RR. 1995. Homozygotes fot CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds. Nat Genet 10:351-353.
16. Hartikainen JM, Tuhkanen H, Kataja V, Dunning AM, Antoniou A, Smith P, Arffman A, Pirskanen M, Easton DF, Eskelinen M, Uusitupa M, Kosma VM, Mannermaa A. 2005. An autosome-wide scan for linkage disequilibrium-based association in sporadic breast cancer cases in eastern Finland: three candidate regions found. Cancer Epidemiol Biomark Prev 14:75-80.
17. Hartikainen JM, Tuhkanen II, Kataja V, Eskelinen M, Uusitupa M, Kosma VM, Mannermaa A. 2006. Refinement of the 22q12-q13 breast cancer-associated region: Evidence of TMPRSS6 as a candidate gene in an eastern Finnish population. Clin Cancer Res 12:1454-1462.
18. Hogervorst F, Cornelis R, Bout M, Van Vliet M, Oosterwijk J, Olmer R, Bakker B, Klijn J, Vasen H, Meijers-Heijboer H, Menko F, Cornelisse C, Den Dunnen J, Devilee P, Van Ommen G-J. 1995. Rapid detection of BRCA1 mutations by the Protein Truncation Test. Nat Genet 10:208-212.
19. Hogervorst FBL, Nederlof PM, Gille JJP, McElgunn CJ, Grippeling M, Pruntel R, Regnerus R, Van Welsem T, van Spaendonk R, Menko FH, Kluijt I, Dommering C, Verhoef S, Schouten JP, Veer LJ, Pals G. 2003. Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method. Cancer Res 63:1449-1453.
20. Huusko P, Juo SH, Gillanders E, Sarantaus L, Kainu T, Vahteristo P, Allinen M, Jones M, Rapakko K, Eerola H, Markey C, Vehmanen P, Gildea D, Freas-Lutz D, Blomqvist C, Leisti J, Blanco G, Puistola H, Trent J, Bailey-Wilson J, Winqvist R, Nevanlinna H, Kallioniemi OP. 2004. Genome-wide scanning for linkage in Finnish breast cancer families. Eur J Hum Genet 12:98-104.
21. Inhal B, Cohen O, Polak-Charcon S, Kopolovic J, Vadai E, Eisenbach L, Kimchi A. 1997. DAP kinase links the control of apoptosis to metastasis. Nature 390:180-184.
22. Jelier R, Jenster G, Dorssers LC, Wouters BJ, Hendriksen PJ, Mons B, Delwel R, Kors JA. 2007. Text-derived concept profiles support assessment of DNA microarray data for acute myeloid leukemia and for androgen receptor stimulation. BMC Bioinformatics 8:e14.
23. Jonsson G, Bendahl PO, Sandberg T, Kurbasic A, Staaf J, Sunde L, Gruger DG, Ingvar C, Olsson H, Borg A. 2005. Mapping of a novel ocular and cutaneous malignant melanoma susceptibility locus to chromosome 9q21.32. J Natl Cancer Inst 97:1377-1382.
24. Joosse SA, van Beers EH, Nederlof PM. 2007. Automated array-CGH optimized for archival formalin-fixed, paraffin-embedded tumor material. BMC Cancer 7:43.
25. Kainu T, Juo SH, Desper R, Schaffer AA, Gillanders K, Rozenblum E, Freas-Lutz D, Weaver D, Stephan D, Bailey-Wilson J, Kallioniemi OP, Tirkkonen M, Syrjakoski K, Kuukasjarvi T, Koivisto P, Karhu R, Holli K, Arason A, Johannesdottir G, Bergthorsson JT, Johannsdottir H, Egilsson V, Barkardottir RB, Johannsson O, Haraldsson K, Sandberg T, Holmberg F, Gronberg H, Olsson H, Borg A, Vehmanen P, Eerola H, Heikkila P, Pyrhonen S, Nevanlinna H. 2000. Somatic deletions in hereditary breast cancers implicare 13q21 as a putative novel breast cancer susceptibility locus. Proc Natl Acad Sci USA 97:9603-9608.
26. Ke X, Collins A, Ye S. 2001. PIRA PCR designer for restriction analysis of single nucleotide polymorphisms. Bioinformatics 17:838-839.
27. Kerangueven F, Essioux L, Dib A, Noguchi T, Allione F, Geneix J, Longy M, Lidereau R, Eisinger F, Pébusque M-J, Jacquemier J, Bonaïti- Pellié C, Sobol H, Birnbaum D. 1995. Loss of heterozygosity and linkage analysis in breast carcinoma: Indication for a putative third susceptibility gene on the short arm of chromosome 8. Oncogene 10:1023-1026.
28. Korkko J, Annunen S, Pihlajamaa T, Prockop DJ, Ala-Kokko L. 1998. Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: Comparison with denaturing gradient gel electrophoresis and nucleotide sequencing. Proc Natl Acad Sci USA 95:1681-1685.
29. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES. 1996. Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 58:1347-1363.
30. Levanon D, Goldstein RE, Bernstein Y, Tang H, Goldenberg D, Stifani S, Paroush Z, Groner Y. 1998. Transcriptional repression by AML1 and LEF-1 is mediated by the TLE/Groucho corepressors. Proc Natl Acad Sci USA 95:11590-11595.
31. Liu Y, Dehni G, Purcell KJ, Sokolow J, Carcangin ML, Artavanis-Tsakonas S, Stifani S. 1996. Epithelial expression and chromosomal location of human TLE genes: Implications for notch signaling and neoplasia. Genomics 31:58-64.
32. McPherson K, Steel CM, Dixon JM. 2000. ABC of breast diseases. Breast cancer-epidemiology, risk factors, and genetics. Br Med J 321:624-628.
33. Oldenburg RA, Kroeze-Jansema K, Meijers-Heijboer EJ, Van Asperen CJ, Hoogerbrugge N, van Leeuwen-Cornelisse I, Vasen HFA, Cleton-Jansen AM, Kraan J, Houwing-Duistermaat JJ, Morreau H, Cornelisse CJ, Devilee P. 2006. Characterization of familial non-BRCA1/2 breast tumors by loss of heterozygosity and immunophenotyping. Clin Cancer Res 12:1693-1700.
34. Parkin DM, Pisani P, Ferlay J. 1999. Global cancer statistics. CA Cancer J Clin 49:33-64, 1.
35. Peelcn T, Van Vliet M, Petrij-Bosch A, Mieremet R, Szabo C, Van den Ouweland AMW, Hogervorst F, Brohet R, Ligtenberg MJL, Teugels E, Van der Luijt R, Van der Hout AH, Gille JJP, Pals G, Jedema I, Olmer R, Van Leeuwen I, Newman B, Plandsoen M, Van der Est M, Brink G, Hageman S, Arts PJW, Bakker MM, Willems HW, Van der Looij E, Neyns B, Bonduelle M, Jansen R, Oosterwijk JC, Sijmons R, Smeets HJM, Van Asperen CJ, Meijers-Heijboer H, Klijn JGM, De Greve J, King MC, Menko FH, Brunner HG, Halley D, Van Ommen G-JB, Vasen HFA, Cornelisse CJ, Van 't Veer LJ, De Knijff P, Bakker E, Devilee P. 1997. A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families. Am J Hum Genet 60:1041-1049.
36. Peto J, Collins N, Barfoot R, Seal S, Warren W, Rahman N, Easton DF, Evans C, Deacon J, Stratum MR. 1999. Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer. J Natl Cancer Inst 91:943-949.
37. Petrij-Bosch A, Peelen T, Van Vliet M, Van Eijk R, Olmer R. Drüsedau M, Hogervorst FBL, Hageman S, Arts PJW, Ligtenberg MJL, Meijers-Heijboer H, Klijn JGM, Vasen HFA, Cornelisse CJ, Van 't Veer LJ, Bakker E, Van Ommen G-JB, Devilee P. 1997. BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat Genet 17:341-345.
38. Raval A, Tanner SM, Byrd JC, Angerman EB, Perko JD, Chen SS, Hackanson B, Grever MR, Lucas DM, Matkovic JJ, Lin TS, Kipps TJ, Murray F, Weisenburger D, Sanger W, Lynch J, Watson P, Jansen M, Yoshinaga Y, Rosenquist R, de Jong PJ, Coggill P, Beck S, Lynch H, de la Chapelle A, Plass C. 2007. Downregulation of death-associated protein kinase 1 (DAPK1) in chronic lymphocytic leukemia. Cell 129:879-890.
39. Rennstam K, Ahlstedt-Soini M, Baldetorp B, Bendahl PO, Borg A, Karhu R, Tanner M, Tirkkonen M, Isola J. 2003. Patterns of chromosomal imbalances defines subgroups of breast cancer with distinct clinical features and prognosis. A study of 305 tumors by comparative genomic hybridization. Cancer Res 63:8861-8868.
40. Seitz, S, Ronde K, Bender E, Nothnagel A, Kolble K, Schlag PM, Scherneck S. 1997. Strong indication fot a breast cancer susceptibility gene on chromosome 8p12-p22: Linkage analysis in German breast cancer families. Oncogene 14:741-743.
41. Smith P, McGuffog L, Easton DF, Mann GJ, Pupo GM, Newman B, Chenevix-Trench G, Szabo C, Southey M, Renard H, Odefrey F, Lynch H, Stoppa-Lyonnet D, Couch FJ, Hopper JL, Giles GG, McCredie MR, Buys S, Andrulis I, Senie R, Goldgar D, Oldenburg R, Kroeze-Jansema K, Kraan J, Meijers-Heijboer EJ, Klijn JGM, Van Asperen CJ, Van Leeuwen I, Vasen H, Cornelisse CJ, Devilee P, Bascombe L, Seal S, Barfoot R, Mangion J, Hall AJ, Edkins S, Rapley E, Wooster R, Chang-Claude J, Eccles D, Evans DG, Futreal AP, Nathanson KL, Weber BL, Rahman N, Stratton MR. 2006. A genome wide linkage search for breast cancer susceptibility genes. Genes Chromosomes Cancer 45:646-655.
42. Sweetser DA, Peniket AJ, Haaland C, Blomberg AV, Zhang Y, Zaidi ST, Dayyani F, Zhao Z, Heerema NA, Boultwood J, Dewald GW, Paietta E, Slovak ML, Willman CL, Wainscoat JS, Bernstein ID, Daly SB. 2005. Delineation of the minimal commonly deleted segment and identification of candidate tumor-suppressor genes in dcl(9q) acute mveloid leukemia. Genes Chromosomes Cancer 44:279-291.
43. Taschner PEM, Jansen JC, Baysal BE, Bosch A, Rosenberg EH, Brocker-Vriends AHJT, Van der Mey AGL, Van Ommen G-JB, Cornelisse CJ, Devilee P. 2001. Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene. Genes Chromosome Cancer 31:274-281.
44. Thompson D, Easton D. 2004. The genetic epidemiology of breast cancer genes. J Mammary Gland Biol Neoplasia 9:221-236.
45. van Beers EH, Joosse SA, Ligtenbetg MJ, Fles R, Hogervorst FB, Verhoef S, Nederlof PM. 2006. A multiplex PCR predictor for aCGH success of FFPE samples. Br J Cancer 94:333-337.
46. Wang ZC, Lin M, Wei LJ, Li C, Miron A, Lodeiro G, Harris L, Ramaswamy S, Tanenbaum DM, Meyerson M, Iglehart JD, Richardson A. 2004. Loss of heterozygosity and its correlation with expression profiles in subclasses of invasive breast cancers. Cancer Res 64:64-71.
47. Ying J, Srivastava G, Hsieh WS, Gao Z, Murray P, Liao SK, Ambinder R, Tao Q. 2005. The stress-responsive gene GADD45G is a functional tumor suppressor, with its response to environmental stresses frequently disrupted epigenetically in multiple tumors. Clin Cancer Res 11:6442-6449.
48. Zeegers MP, van Poppel F, Vlietinck R, Spruijt L, Ostrer H. 2004. Founder mutations among the Dutch. Eur J Hum Genet 12:591-600.