The BARD1 Cys557Ser variant and breast cancer risk in Iceland

PLoS Medicine

Volumn 3, Issue 7, 2006, Pages 1103-1113

  Stacey, Simon N ^a   Sulem, Patrick ^a   Johannsson, Oskar T ^b   Helgason, Agnar ^a   Gudmundsson, Julius ^a   Kostic, Jelena P ^a   Kristjansson, Kristleifur ^a   Jonsdottir, Thora ^b   Sigurdsson, Helgi ^b   Hrafnkelsson, Jon ^b   Johannsson, Jakob ^b   Sveinsson, Thorarinn ^b   Myrdal, Gardar ^b   Grimsson, Hlynur Niels ^b   Bergthorsson, Jon T ^a   Amundadottir, Laufey T ^a   Gulcher, Jeffrey R ^a   Thorsteinsdottir, Unnur ^a   Kong, Augustine ^a   Stefansson, Kari ^a  

^a DECODE GENETICS   (Iceland)

^b LANDSPITALI UNIVERSITY HOSPITAL   (Iceland)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 ASSOCIATED RING DOMAIN PROTEIN 1; BARD1 PROTEIN, HUMAN; TUMOR SUPPRESSOR PROTEIN; UBIQUITIN PROTEIN LIGASE;

ARTICLE; BREAST CANCER; BREAST TUMOR; CANCER DIAGNOSIS; CANCER INCIDENCE; CANCER RISK; CONTROLLED STUDY; FAMILY HISTORY; FEMALE; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENEALOGY; HAPLOTYPE; HETEROZYGOTE; HUMAN; ICELAND; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; SINGLE NUCLEOTIDE POLYMORPHISM; ADULT; AGED; ALLELE; AMINO ACID SUBSTITUTION; CARCINOMA IN SITU; CASE CONTROL STUDY; CLUSTER ANALYSIS; COHORT ANALYSIS; ETHNOLOGY; FAMILIAL CANCER; FOUNDER EFFECT; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; INTRADUCTAL CARCINOMA; LUNG CARCINOMA; MEDULLARY CARCINOMA; MIDDLE AGED; MISSENSE MUTATION; ONSET AGE; PAGET NIPPLE DISEASE; PHYSIOLOGY; POINT MUTATION; RISK; TUMOR SUPPRESSOR GENE;

ADULT; AGE OF ONSET; AGED; ALLELES; AMINO ACID SUBSTITUTION; BREAST NEOPLASMS; CARCINOMA IN SITU; CARCINOMA, DUCTAL, BREAST; CARCINOMA, INTRADUCTAL, NONINFILTRATING; CARCINOMA, LOBULAR; CARCINOMA, MEDULLARY; CASE-CONTROL STUDIES; CLUSTER ANALYSIS; COHORT STUDIES; FEMALE; FOUNDER EFFECT; GENE FREQUENCY; GENES, BRCA2; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HUMANS; ICELAND; MIDDLE AGED; MUTATION, MISSENSE; NEOPLASTIC SYNDROMES, HEREDITARY; ODDS RATIO; POINT MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK; SEQUENCE DELETION; TUMOR SUPPRESSOR PROTEINS; UBIQUITIN-PROTEIN LIGASES;

EID: 33746407710     PISSN: 15491277     EISSN: 15491676     Source Type: Journal    
DOI: 10.1371/journal.pmed.0030217     Document Type: Article

References (55)

1. Easton DF (1999) How many more breast cancer predisposition genes are there? Breast Cancer Res 1: 14-17.
2. Balmain A, Gray J, Ponder B (2003) The genetics and genomics of cancer. Nat Genet 33: 238-244.
3. Lichtenstein P, Holm NV, Verkasalo PK, Iliadou A, Kaprio J, et al. (2000) Environmental and heritable factors in the causation of cancer - Analyses of cohorts of twins from Sweden, Denmark, and Finland. N Engl J Med 343: 78-85.
4. Peto J, Mack TM (2000) High constant incidence in twins and other relatives of women with breast cancer. Nat Genet 26: 411-414.
5. Antoniou AC, Pharoah PD, McMullan G, Day NE, Ponder BA, et al. (2001) Evidence for further breast cancer susceptibility genes in addition to BRCA1 and BRCA2 in a population-based study. Genet Epidemiol 21: 1-18.
6. Antoniou AC, Pharoah PD, McMullan G, Day NE, Stratton MR, et al. (2002) A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes. Br J Cancer 86: 76-83.
7. Pharoah PD, Antoniou A, Bobrow M, Zimmern RL, Easton DF, et al. (2002) Polygenic susceptibility to breast cancer and implications for prevention. Nat Genet 31: 33-36.
8. Amundadottir LT, Thorvaldsson S, Gudbjartsson DF, Sulem P, Kristjansson K, et al. (2004) Cancer as a complex Phenotype: Pattern of cancer distribution within and beyond the nuclear family. PLoS Med 1: e65. DOI: 10.1371/journal. pmed.0010065
9. Tulinius H, Olafsdottir GH, Sigvaldason H, Arason A, Barkardottir RB, et al. (2002) The effect of a single BRCA2 mutation on cancer in Iceland. J Med Genet 39: 457-462.
10. Arason A, Jonasdottir A, Barkardottir RB, Bergthorsson JT, Teare MD, et al. (1998) A population study of mutations and LOH at breast cancer gene loci in tumours from sister pairs: Two recurrent mutations seem to account for all BRCA1/BRCA2 linked breast cancer in Iceland. J Med Genet 35: 446-449.
11. Bergthorsson JT, Jonasdottir A, Johannesdottir G, Arason A, Egilsson V, et al. (1998) Identification of a novel splice-site mutation of the BRCA1 gene in two breast cancer families: Screening reveals low frequency in Icelandic breast cancer patients. Hum Mutat Suppl 1: S195-S197.
12. Thorlacius S, Sigurdsson S, Bjarnadottir H, Olafsdottir G, Jonasson JG, et al. (1997) Study of a single BRCA2 mutation with high carrier frequency in a small population. Am J Hum Genet 60: 1079-1084.
13. Gudmundsson J, Johannesdottir G, Arason A, Bergthorsson JT, Ingvarsson S, et al. (1996) Frequent occurrence of BRCA2 linkage in Icelandic breast cancer families and segregation of a common BRCA2 haplotype. Am J Hum Genet 58: 749-756.
14. Westermark UK, Reyngold M, Olshen AB, Baer R, Jasin M, et al. (2003) BARD1 participates with BRCA1 in homology-directed repair of chromosome breaks. Mol Cell Biol 23: 7926-7936.
15. Baer R, Ludwig T (2002) The BRCA1/BARD1 heterodimer, a tumor suppressor complex with ubiquitin E3 ligase activity. Curr Opin Genet Dev 12: 86-91.
16. Joukov V, Chen J, Fox EA, Green JB, Livingston DM (2001) Functional communication between endogenous BRCA1 and its partner, BARD1, during Xenopus laevis development. Proc Natl Acad Sci U S A 98: 12078-12083.
17. McCarthy EE, Celebi JT, Baer R, Ludwig T (2003) Loss of Bard1, the heterodimeric partner of the Brca1 tumor suppressor, results in early embryonic lethality and chromosomal instability. Mol Cell Biol 23: 5056-5063.
18. Irminger-Finger I, Leung WC (2002) BRCA1-dependent and independent functions of BARD1. Int J Biochem Cell Biol 34: 582-587.
19. Irminger-Finger I, Leung WC, Li J, Dubois-Dauphin M, Harb J, et al. (2001) Identification of BARD1 as mediator between proapoptotic stress and p53-dependent apoptosis. Mol Cell 8: 1255-1266.
20. Rodriguez JA, Schuchner S, Au WW, Fabbro M, Henderson BR (2004) Nuclear-cytoplasmic shuttling of BARD1 contributes to its proapoptotic activity and is regulated by dimerization with BRCA1. Oncogene 23: 1809-1820.
21. Fabbro M, Schuechner S, Au WW, Henderson BR (2004) BARD1 regulates BRCA1 apoptotic function by a mechanism involving nuclear retention. Exp Cell Res 298: 661-673.
22. Hashizume R, Fukuda M, Maeda I, Nishikawa H, Oyake D, et al. (2001) The RING heterodimer BRCA1-BARD1 is a ubiquitin ligase inactivated by a breast cancer-derived mutation. J Biol Chem 276: 14537-14540.
23. Brzovic PS, Meza JE, King MC, Klevit RE (2001) BRCA1 RING domain cancer-predisposing mutations. Structural consequences and effects on protein-protein interactions. J Biol Chem 276: 41399-41406.
24. Ghimenti C, Sensi E, Presciuttini S, Brunetti IM, Conte P, et al. (2002) Germline mutations of the BRCA1-associated ring domain (BARD1) gene in breast and breast/ovarian families negative for BRCA1 and BRCA2 alterations. Genes Chromosomes Cancer 33: 235-242.
25. Ishitobi M, Miyoshi Y, Hasegawa S, Egawa C, Tamaki Y, et al. (2003) Mutational analysis of BARD1 in familial breast cancer patients in Japan. Cancer Lett 200: 1-7.
26. Karppinen SM, Heikkinen K, Rapakko K, Winqvist R (2004) Mutation screening of the BARD1 gene: Evidence for involvement of the Cys557Ser allele in hereditary susceptibility to breast cancer. J Med Genet 41: e114.
27. Thai TH, Du F, Tsan JT, Jin Y, Phung A, et al. (1998) Mutations in the BRCA1-associated RING domain (BARD1) gene in primary breast, ovarian and uterine cancers. Hum Mol Genet 7: 195-202.
28. Jefford CE, Feki A, Harb J, Krause KH, Irminger-Finger I (2004) Nuclearcytoplasmic translocation of BARD1 is linked to its apoptotic activity. Oncogene 23: 3509-3520.
29. Kleiman FE, Manley JL (2001) The BARD1-CstF-50 interaction links mRNA 39 end formation to DNA damage and tumor suppression. Cell 104: 743-753.
30. Dechend R, Hirano F, Lehmann K, Heissmeyer V, Ansieau S, et al. (1999) The Bcl-3 oncoprotein acts as a bridging factor between NF-kappaB/Rel and nuclear co-regulators. Oncogene 18: 3316-3323.
31. Sauer MK, Andrulis IL (2005) Identification and characterization of missense alterations in the BRCA1 associated RING domain (BARD1) gene in breast and ovarian cancer. J Med Genet 42: 633-638.
32. Gulcher JR, Kristjansson K, Gudbjartsson H, Stefansson K (2000) Protection of privacy by third-party encryption in genetic research in Iceland. Eur J Hum Genet 8: 739-742.
33. Gudbjartsson DF, Jonasson K, Frigge ML, Kong A (2000) Allegro, a new computer program for multipoint linkage analysis. Nat Genet 25: 12-13.
34. Gretarsdottir S, Thorleifsson G, Reynisdottir ST, Manolescu A, Jonsdottir S, et al. (2003) The gene encoding phosphodiesterase 4D confers risk of ischemic stroke. Nat Genet 35: 131-138.
35. Sigurgardottir S, Helgason A, Gulcher JR, Stefansson K, Donnelly P (2000) The mutation rate in the human mtDNA control region. Am J Hum Genet 66: 1599-1609.
36. CHEK2 Breast Cancer Case-Control Consortium (2004) CHEK2*1100delC and susceptibility to breast cancer: A collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am J Hum Genet 74: 1175-1182.
37. Meijers-Heijboer H, van den Ouweland A, Klijn J, Wasielewski M, de Snoo A, et al. (2002) Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 31: 55-59.
38. Cannon-Albright LA, Thomas A, Goldgar DE, Gholami K, Rowe K, et al. (1994) Familiality of cancer in Utah. Cancer Res 54: 2378-2385.
39. Helgason A, Yngvadottir B, Hrafnkelsson B, Gulcher J, Stefansson K (2005) An Icelandic example of the impact of population structure on association studies. Nat Genet 37: 90-95.
40. Pharoah PD (2003) Genetic susceptibility, predicting risk and preventing cancer. Recent Results Cancer Res 163: 7-18.
41. Ponder BA (2001) Cancer genetics. Nature 411: 336-341.
42. Houlston RS, Peto J (2004) The search for low-penetrance cancer susceptibility alleles. Oncogene 23: 6471-6476.
43. Vahteristo P, Bartkova J, Eerola H, Syrjakoski K, Ojala S, et al. (2002) A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. Am J Hum Genet 71: 432-438.
44. Rosen PP, Lesser ML, Senie RT, Kinne DW (1982) Epidemiology of breast carcinoma III: Relationship of family history to tumor type. Cancer 50: 171-179.
45. Erdreich LS, Asal NR, Hoge AF (1980) Morphologic types of breast cancer: Age, bilaterality, and family history. South Med J 73: 28-32.
46. Allen-Brady K, Camp NJ, Ward JH, Cannon-Albright LA (2005) Lobular breast cancer: Excess familiality observed in the Utah Population Database. Int J Cancer 117: 655-661.
47. Lakhani SR, Gusterson BA, Jacquemier J, Sloane JP, Anderson TJ, et al. (2000) The pathology of familial breast cancer: Histological features of cancers in families not attributable to mutations in BRCA1 or BRCA2. Clin Cancer Res 6: 782-789.
48. Lakhani SR (1999) The pathology of familial breast cancer: Morphological aspects. Breast Cancer Res 1: 31-35.
49. Breast Cancer Linkage Consortium (1997) Pathology of familial breast cancer: Differences between breast cancers in carriers of BRCA1 or BRCA2 mutations and sporadic cases. Lancet 349: 1505-1510.
50. Marcus JN, Watson P, Page DL, Narod SA, Lenoir GM, et al. (1996) Hereditary breast cancer: Pathobiology, prognosis, and BRCA1 and BRCA2 gene linkage. Cancer 77: 697-709.
51. Iau PT, Marafie M, Ali A, Sng JH, Macmillan RD, et al. (2004) Are medullary breast cancers an indication for BRCA1 mutation screening? A mutation analysis of 42 cases of medullary breast cancer. Breast Cancer Res Treat 85: 81-88.
52. Johannsson OT, Ranstam J, Borg A, Olsson H (1998) Survival of BRCA1 breast and ovarian cancer patients: A population-based study from southern Sweden. J Clin Oncol 16: 397-404.
53. Robson M, Gilewski T, Haas B, Levin D, Borgen P, et al. (1998) BRCA-associated breast cancer in young women. J Clin Oncol 16: 1642-1649.
54. Verhoog LC, Brekelmans CT, Seynaeve C, van den Bosch LM, Dahmen G, et al. (1998) Survival and tumour characteristics of breast-cancer patients with germline mutations of BRCA1. Lancet 351: 316-321.
55. Jemal A, Murray T, Ward E, Samuels A, Tiwari RC, et al. (2005) Cancer statistics, 2005. CA Cancer J Clin 55: 10-30.