Chromosome 8p alterations in sporadic and BRCA2 999de15 linked breast cancer

Journal of Medical Genetics

Volumn 37, Issue 5, 2000, Pages 342-347

  Sigbjörnsdottir, Bjarnveig Ingibjörg ^a   Ragnarsson, Gisli ^a   Agnarsson, Bjarni Agnar ^a   Huiping, Chen ^a   Barkardottir, Rosa Björk ^a   Egilsson, Valgardur ^a   Ingvarsson, Sigurdur ^a  

^a LANDSPITALI UNIVERSITY HOSPITAL   (Iceland)

Author keywords

BRCA2; Breast cancer; Chromosome 8; LOH

Indexed keywords

BRCA2 PROTEIN; MICROSATELLITE DNA;

ADULT; AGED; ANEUPLOIDY; ARTICLE; BREAST CANCER; CELL CYCLE S PHASE; CHROMOSOME 11P; CHROMOSOME 11Q; CHROMOSOME 13Q; CHROMOSOME 16Q; CHROMOSOME 17P; CHROMOSOME 17Q; CHROMOSOME 18Q; CHROMOSOME 1P; CHROMOSOME 20Q; CHROMOSOME 3P; CHROMOSOME 6Q; CHROMOSOME 7Q; CHROMOSOME 8P; CHROMOSOME 9Q; CHROMOSOME LOSS; CHROMOSOME MARKER; DELETION MUTANT; FEMALE; HETEROZYGOSITY LOSS; HUMAN; HUMAN TISSUE; LYMPH NODE; MAJOR CLINICAL STUDY; ONCOGENE; PRIORITY JOURNAL; PROGNOSIS; TUMOR VOLUME;

BRCA2 PROTEIN; BREAST NEOPLASMS; CHROMOSOMES, HUMAN, PAIR 8; DNA, NEOPLASM; FEMALE; GENES, TUMOR SUPPRESSOR; GERM-LINE MUTATION; HUMANS; LOSS OF HETEROZYGOSITY; MICROSATELLITE REPEATS; MIDDLE AGED; NEOPLASM PROTEINS; POLYMERASE CHAIN REACTION; PROGNOSIS; SEQUENCE DELETION; TRANSCRIPTION FACTORS;

EID: 1642586739     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (47)

1. Newman B, Austin M, Lee M, King M. Inheritance of human breast cancer: evidence for autosomal dominant transmission in high risk families. Proc Natl Acad Sci USA 1988;85:3044-8.
2. Wooster R, Neuhausen SL, Mangion J, et al. Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science 1994;265:2088-90.
3. Wooster R, Bignell G, Lancaster J, et al. Identification of the breast cancer susceptibility gene BRCA2. Nature 1995;378: 789-92.
4. Berman DB, Costalas J, Schultz DC, Grana G, Mary D, Godwin AK. A common mutation in BRCA2 that predisposes to a variety of cancers is found in both Jewish Ashkenazi and non-Jewish individuals. Cancer Res 1996;56: 2409-14.
5. Smith SA, Easton DF, Evans DG, Ponder BA. Allele losses in the region 17q12-21 in familial breast and ovarian cancer involve the wild-type chromosome. Nat Genet 1992;2: 128-31.
6. Gudmundsson J, Johannesdottir G, Bergthorsson JT, et al. Different tumour types from BRCA2 carriers show wild-type chromosome deletions on 13q12-q13. Cancer Res 1995;55:4830-2.
7. Collins N, McManus R, Wooster R, et al. Consistent loss of the wild type allele in breast cancers from a family linked to the BRCA2 gene on chromosome 13q12-13. Oncogene 1995;10:1673-5.
8. Rajan J, Marquis S, Gardner H, Chodosh L. Developmental expression of BRCA2 colocalizes with BRCA1 and is associated with proliferation and differentiation in multiple tissues. Dev Biol 1997;184:385-401.
9. Tirkkonen M, Johannsson O, Agnarsson BA, et al. Distinct somatic genetic changes associated with tumour progression in carriers of BRCA1 and BRCA2 germ-line mutations. Cancer Res 1997;57:1222-7.
10. Ingvarsson S, Geirsdottir EK, Johannesdottir G, et al. High incidence of loss of heterozygosity in breast tumours from carriers of the 999del5 BRCA2 mutation. Cancer Res 1998; 58:4421-5.
11. Tirkkonen M, Kainu T, Niklas L, et al. Somatic genetic alterations in BRCA2-associated and sporadic male breast cancer. Genes Chrom Cancer 1999;24:56-61.
12. Patel KJ, Yu VPCC, Lee HS, et al. Involvement of BRCA2 in DNA repair. Mol Cell 1998;1:347-57.
13. Abbott DW, Freeman ML, Holt JT. Double-strand break repair deficiency and radiation sensitivity in BRCA2 mutant cancer cells. J Natl Cancer Inst 1998;90:978-85.
14. Vogelstein B, Fearon ER, Kern SE. Allelotype of colorectal carcinomas. Science 1989;244:207-11
15. Cunningham C, Dunlop MG, Wyllis AH, Bird CC. Deletion mapping in colorectal cancer of a putative tumor suppressor gene in 8p22-p21.3. Oncogene 1993;8:1391-6.
16. Yaremko ML, Wasylyshyn ML, Paulus KL, Michelassi F, Westbrook CA. Deletion mapping reveals two regions of chromosome 8 allele loss in colorectal carcinoma. Genes Chrom Cancer 1994;10:1-6.
17. Knowles MA, Shaw ME, Proctor AJ. Deletion mapping of chromosome 8 in cancers of the urinary bladder using restriction fragment polymorphisms and microsatellite polymorphisms. Oncogene 1993;8:1357-64.
18. Emi M, Fujiwara Y, Ohata H, Tsuda H, Hiroshashi S, Koike M. Allelic loss at chromosome band 8p21.3-p22 is associated with progression of hepatocellular carcinoma. Genes Chrom Cancer 1993;7:152-7.
19. Emi M, Fujiwara Y, Nakajima T, Tsuchiya E, Tsuda H, Hirohashi S. Frequent loss of heterozygosity for loci on chromosome 8p in hepatocellular carcinoma, colorectal cancer and lung cancer. Cancer Res 1992;52:5368-72.
20. Bova GS, Carter BS, Bussemakers MJG, Emi M, Fujiwara Y, Kyprianou N. Homozygous deletion and frequent allelic loss of chromosome 8p22 loci in human prostate cancer. Cancer Res 1993;53:3869-73.
21. MacGrogan D, Levy A, Bostwick D, Wagner M, Wells D, Bookstein R. Loss of chromosome arm 8p loci in prostate cancer: mapping by quantitative allelic imbalance. Genes Chrom Cancer 1994;10:151-9.
22. Ohata H, Emi M, Fujiwara Y, Higashin K, Nakagawa K, Futagami R. Deletion mapping of chromosome 8 in non-small cell lung carcinoma. Genes Chrom Cancer 1993;7:85-8.
23. Cilby W, Ritland S, Hartmann L, Dodson M, Halling KC, Keeney G. Human epithelial ovarian cancer allelotype. Cancer Res 1993;53:2393-8.
24. Kerangueven F, Essioux L, Dib A, et al. Loss of heterozygosity and linkage analysis in breast carcinoma: indication for a putative third susceptibility gene on the short arm of chromosome 8. Oncogene 1995;10:1023-6.
25. Yaremko ML, Recant WM, Westbrook CA. Loss of heterozygosity from the short arm of chromosome 8 is an early event in breast cancers. Genes Chrom Cancer 1995;13:186-91.
26. Anbazhagan R, Fujii H, Gabrielson E. Allelic loss of chromosomal arm 8p in breast cancer progression. Am J Pathol 1998;152:815-19.
27. Chuaqui RF, Sanz-Orega J, Vocke C, et al. Loss of heterozygosity on the short arm of chromosome 8 in male breast carcinomas. Cancer Res 1995;55:4995-8.
28. Seitz S, Rohde K, Bender E, et al. Strong indication for a breast cancer susceptibility gene on chromosome 8p12-p22: linkage analysis in German breast cancer families. Oncogene 1997;14:741-3.
29. Radford DM, Fair KL, Phillips NJ, et al. Allelotyping of ductal carcinoma in situ of the breast: deletion of loci on 8p, 13q, 17p and 17q. Cancer Res 1995;55:3399-405.
30. Yaremko ML, Kutza C, Lyzak J, Mick R, Recant WM, Westbrook CA. Loss of heterozygosity from the short arm of chromosome 8 is associated with invasive behaviour in breast cancer. Genes Chrom Cancer 1996;16:189-95.
31. Johannesdottir G, Gudmundsson J, Bergthorsson JT, et al. High prevalence of the 999del5 mutation in Icelandic breast and ovarian cancer patients. Cancer Res 1996;56: 3663-5.
32. Thorlacius S, Sigurdsson S, Bjarnadottir H, et al. Study of a single BRCA2 mutation with high carrier frequency in a small population. Am J Hum Genet 1997;60:1079-84.
33. Maniatis T, Fritsch EF, Sambrook J. Molecular cloning: a laboratory manual. New York: Cold Spring Harbor Laboratory Press, 1982.
34. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
35. Gyapay G, Morissette J, Vignal A, et al. The 1993-1994 Genethon human genetic linkage map. Nat Genet 1994;7: 246-339.
36. Vignal A, Gyapay G, Hazan J., et al. Nonradioactive multiplex procedure for genotyping of microsatellite markers. In: Adolph KW, ed. Methods in molecular genetics, Vol 1. San Diego, Academic Press 1993:211-21.
37. Barkardottir RB, Arason A, Egilsson V, Gudmundsson J, Jonasdottir A, Johannesdottir G. Chromosome 17q-linkage seems to be infrequent in Icelandic families at risk of breast cancer. Acta Oncol 1995;34:657-62.
38. Kaplan EL, Meier P. Nonparametric estimation from incomplete observations. J Am Stat Assoc 1958;53:457-81.
39. Mantel N. Evaluation of survival data and two new rank order statistics arising in its consideration. Cancer Chemother Rep 1960;50:163-70.
40. Cox DR. Regression models and life-tables. J R Stat Soc (B) 1972;34:187-220.
41. Seitz S, Rohde K, Bender E, et al. Deletion mapping and linkage analysis provide strong indication for the involvement of the human chromosome region 8p12-p22 in breast carcinogenesis. Br J Cancer 1997;76:983-91.
42. Agnarsson BA, Jonasson JG, Björnsdottir IB, Barkardottir RB, Egilsson V, Sigurdsson H. Inherited BRCA2 mutation associated with high grade breast cancer. Breast Cancer Res Treat 1998;47:121-7.
43. Connor F, Bertwistle D, Mee PJ, et al. Tumorigenesis and a DNA repair defect in mice with a truncating Brca2 mutation. Nat Genet 1997;17:423-30.
44. Eiriksdottir G, Barkardottir RB, Agnarsson BA, et al. High incidence of loss of heterozygosity at chromosome 17p13 in breast tumours from BRCA2 mutation carriers. Oncogene 1998;16:21-6.
45. Gretarsdottir S, Thorlacius S, Valgardsdottir R, et al. BRCA2 and P53 mutations in primary breast cancer in relation to genetic instability. Cancer Res 1998;58:859-62.
46. Bergthorsson JT, Johannsdottir J, Jonasdottir A, et al. Chromosome imbalance at the 3p14 region in human breast tumours: high frequency in patients with inherited predispostition due to BRCA2. Eur J Cancer 1998;34:142-7.
47. Ingvarsson S, Agnarsson BA, Sigbjornsdottir BI, et al. Reduced Fhit expression in familial and sporadic breast carcinomas. Cancer Res 1999;59:2682-9.