Germline mutations in the BRCA2 gene and susceptibility to hereditary prostate cancer

Clinical Cancer Research

Volumn 13, Issue 3, 2007, Pages 839-843

  Agalliu, Ilir ^a   Kwon, Erika M ^c   Zadory, Daniel ^c   McIntosh, Laura ^a   Thompson, Joseph ^c   Stanford, Janet L ^a,b   Ostrander, Elaine A ^c  

^a UNIVERSITY OF WASHINGTON   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA2 PROTEIN;

5' UNTRANSLATED REGION; ADULT; AGED; ARTICLE; BREAST CANCER; CANCER EPIDEMIOLOGY; CANCER RISK; CANCER SUSCEPTIBILITY; DISEASE COURSE; EXON; FAMILIAL CANCER; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SCREENING; GENOTYPE; HETEROZYGOTE; HIGH RISK POPULATION; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; OVARY CANCER; PANCREAS CANCER; PRIORITY JOURNAL; PROSTATE CANCER; RISK ASSESSMENT; STATISTICAL ANALYSIS;

AGE OF ONSET; ALLELES; DNA MUTATIONAL ANALYSIS; EXONS; GENES, BRCA2; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GERM-LINE MUTATION; HUMANS; INTRONS; MALE; MUTATION; MUTATION, MISSENSE; PROSTATIC NEOPLASMS; RISK;

EID: 33847340612     PISSN: 10780432     EISSN: None     Source Type: Journal    
DOI: 10.1158/1078-0432.CCR-06-2164     Document Type: Article

References (37)

1. Carter BS, Bova S, Beauty TH, et al. Hereditary prostate cancer: epidemic-logic and clinical features. J Urol 1993;150:797-802.
2. Easton DF, Schaid DJ, Whittemore AS, Isaacs WJ; International Consortium for Prostate Cancer Genetics. Where are the prostate cancer genes? A summary of eight genome-wide searches. Prostate 2003;57:261-9.
3. Ostrander EA, Stanford JL. Genetics of prostate cancer: too many loci, too few genes. Am J Hum Genet 2000;67:1367-75.
4. Schaid DJ. The complex genetic epidemiology of prostate cancer. Hum Mol Genet 2004;13:R103-21.
5. Cannon L, Bishop DT, Skolnick M, et al. Genetic epidemiology of prostate cancer in the Utah Mormon genealogy. Cancer Surv 1982;1:47-69.
6. Tulinius H, Egilsson V, Ólafsdóttir GH, Sigvaldason H. Risk of prostate, ovarian, and endometrial cancer among relatives of women with breast cancer. BMJ 1992;305:855-7.
7. Jishi M, Itnyre J, Oakley-Girvan I, Piver M, Whittermore A. Risks of cancer among members of families in the Gilda Radner Familial Ovarian Cancer Registry. Cancer 1995;76:1416-20.
8. Valeri A, Fournier G, Morin V, et al. Early onset and familial predisposition to prostate cancer significantly enhance the probability for breast cancer in first degree relatives. Int J Cancer 2000;86:883-7.
9. Tung KH, Goodman MT, Wu AH, et al. Aggregation of ovarian cancer with breast, ovarian, colorectal, and prostate cancer in first-degree relatives. Am J Epidemiol 2004;159:750-8.
10. Hemminki K, Chen B. Familial association of prostate cancer with other cancers in the Swedish family-cancer database. Prostate 2005;65:188-94.
11. Breast Cancer Linkage Consortium. Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst 1999;91:1310-6.
12. Johannsson O, Loman N, Moller T, et al. Incidence of malignant tumours in relatives of BRCA1 and BRCA2 germline mutation carriers. Eur J Cancer 1999;35:1248-57.
13. Tulinius H, Olafsdottir GH, Sigvaldason H, et al. The effect of a single BRCA2 mutation on cancer in Iceland. J Med Genet 2002;39:457-62.
14. Eerola H, Pukkala E, Pyrhonen S, Blomqvist C, Sankila R, Nevanlinna H. Risk of cancer in BRCA1 and BRCA2 mutation-positive and -negative breast cancer families (Finland). Cancer Causes Control 2001;12:739-46.
15. Loman N, Bladstrom A, Johannsson O, Borg A, Olsson H. Cancer incidence in relatives of a population-based set of cases of early-onset breast cancer with a known BRCA1 and BRCA2 mutation status. Breast Cancer Res 2003;5:R175-86.
16. Bermejo JL, Hemminki K. Risk of cancer at sites other than the breast in Swedish families eligible for BRCA1 or BRCA2 mutation testing. Ann Oncol 2004;15:1834-41.
17. Van Asperen CJ, Brohet RM, Meijers-Heijboer EJ, et al. Cancer risks in BRCA2 families: estimates for sites other than breast and ovary. J Med Genet 2005;42:711-9.
18. Wilkens EP, Freije D, Xu J, et al. No evidence for a role of BRCA1 or BRCA2 mutations in Ashkenazi Jewish families with hereditary prostate cancer. Prostate 1999;39:280-4.
19. Sinclair CS, Berry R, Schaid D, Thibodeau SN, Couch FJ. BRCA1 and BRCA2 have a limited role in familial prostate cancer. Cancer Res 2000;60:1371-5.
20. Gayther SA, de Foy KA, Harrington P, et al. The frequency of germline mutations in the breast cancer predisposition genes BRCA1 and BRCA2 in familial prostate cancer. Cancer Res 2000;60:4513-8.
21. Janer M, Friedrichsen DM, Stanford JL, et al. Genomic scan of 254 hereditary prostate cancer families. Prostate 2003;57:309-19.
22. Stanford JL, McDonnell SK, Friedrichsen DM, et al. Prostate cancer and genetic susceptibility: a genome scan incorporating disease aggressiveness. Prostate 2006;66:317-25.
23. Malone KE, Daling JR, Neal C, et al. Frequency of BRCA1/BRCA2 mutations in a population-based sample of young breast carcinoma cases. Cancer 2000;88:1393-402.
24. Gordon D, Abajian C, Green P. Consed: a graphical tool for sequence finishing. Genome Res 1998;8:195-202.
25. Nickerson DA, Tobe VO, Taylor SL. PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing. Nucleic Acids Res 1997;25:2745-51.
26. Edwards SM, Kote-Jarai Z, Meitz J, et al. Two percent of men with early-onset prostate cancer harbor germline mutations in the BRCA2 gene. Am J Hum Genet 2003;72:1-12.
27. Frank TS, Deffenbaugh AM, Reid JE, et al. Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. J Clin Oncol 2002;20:1480-90.
28. Goldgar DE, Easton DF, Deffenbaugh AM, et al. Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2. Am J Hum Genet 2004;75:535-44.
29. Wu K, Hinson SR, Ohashi A, et al. Functional evaluation and cancer risk assessment of BRCA2 unclassified variants. Cancer Res 2005;65:417-26.
30. Davies AA, Masson JY, McIlwraith MJ, et al. Role of BRCA2 in control of the RAD51 recombination and DNA repair protein. Mol Cell 2001;7:273-82.
31. Xia F, Taghian DG, DeFrank JS, et al. Deficiency of human BRCA2 leads to impaired homologous recombination but maintains normal nonhomologous end joining. Proc Natl Acad Sci U S A 2001;98:8644-9.
32. Powell SN, Kachnic LA. Roles of BRCA1 and BRCA2 in homologous recombination, DNA replication fidelity and the cellular response to ionizing radiation. Oncogene 2003;22:5784-91.
33. Bork P, Blomberg N, Nilges M. Internal repeats in the BRCA2 protein sequence. Nat Genet 1996;13:22-3.
34. Wong AKC, Pero R, Ormonde PA, Tavtigian SV, Bartel PL. RAD51 interacts with the evolutionary conserved BRC motifs in the human cancer susceptibility gene BRCA2. J Biol Chem 1997;272:31941-4.
35. Chen PL, Chen CF, Chen YM, Xiao YM, Sharp ZD, Lee WH. The BRC repeats in BRCA2 are critical for Rad51 binding and resistance to methyl methanesulfonate treatment. Proc Natl Acad Sci U S A 1998;95:5287-92.
36. Bignell G, Micklem G, Stratton M, Ashworth A, Wooster R. The BRC repeats are conserved in mammalian BRCA2 proteins. Hum Mol Genet 1997;6:53-8.
37. Pellegrini L, Yu DS, Lo T, et al. Insights into DNA recombination from the structure of a RAD51-2 complex. Nature 2002;420:287-93.