Phenocopies in BRCA1 and BRCA2 families: Evidence for modifier genes and implications for screening

Journal of Medical Genetics

Volumn 44, Issue 1, 2007, Pages 10-15

  Smith, A ^a   Moran, A ^b   Boyd, M C ^a   Bulman, M ^a   Shenton, A ^a   Smith, L ^c   Iddenden, R ^b   Woodward, E R ^c   Lalloo, F ^a   Maher, E R ^c   Evans, D G R ^a  

^a ST MARY S HOSPITAL   (United Kingdom)

^b CHRISTIE HOSPITAL   (United Kingdom)

^c UNIVERSITY DEPARTMENT OF MEDICINE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

ADULT; AGED; ARTICLE; BREAST CANCER; CANCER INCIDENCE; CANCER REGISTRY; CANCER RISK; DNA MODIFICATION; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SCREENING; HIGH RISK POPULATION; HUMAN; MAJOR CLINICAL STUDY; OVARY CANCER; PRIORITY JOURNAL;

ADULT; AGED; AGED, 80 AND OVER; BREAST NEOPLASMS; FAMILY; FEMALE; GENES, BRCA1; GENES, BRCA2; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HUMANS; MIDDLE AGED; MUTATION; OVARIAN NEOPLASMS; PHENOTYPE;

EID: 33846425741     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2006.043091     Document Type: Article

References (42)

1. Newman B, Austin MA, Lee M, King MC. Inheritance of human breast cancer: evidence for autosomal dominant transmission in high-risk families. Proc Natl Acad Sci U S A 1988;85:3044-8.
2. Claus EB, Risch N, Thompson WD. Autosomal dominant inheritance of early-onset breast cancer. Implications for risk prediction. Cancer 1994;73:643-51.
3. Peto J, Mack TM. High constant incidence in twins and other relatives of women with breast cancer. Nat Genet 2000;26:411-14.
4. Broca P. Traite des tumeurs. Paris: Asselin, 1866:151-5.
5. Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, Huey B, King MC. Linkage of early-onset familial breast cancer to chromosome 17q21. Science 1990;250:1684-9.
6. Wooster R, Neuhausen SL, Mangion J, Quirk Y, Ford D, Collins N, Nguyen K, Seal S, Tran T, Averill D. Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science 1994;265:2088-90,
7. Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Lui Q, Cochran C, Bennett LM, Ding W, Bell r, Rosenthal J, Hussey C, Tran T, McClure M, Frye C, Hattier T, Phleps R, Haugen-Strano A, Katcher H, Yakumo K, Gholami Z, Shaffer D, Stone S, Bayer S, Wray C, Bogden R, Dayananth P, Ward J, Tonin P, Narod S, Bristow PK, Morris FH, Helverina L, Morrison P, Resteck F, Lai M, Barrett JC, Lewis C, Neuhausen S, Cannon-Albright I, Goldgar D, Wiseman R, Kamb A, Skolnick MH. A strong candidate for the breast one ovarian cancer susceptibility gene BRCA1. Science 1994;266:66-71
8. Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, Collins N, Gregory S, Gumbs C, Micklem G, Stratton M. Identification of the breast cancer susceptibility gene BRCA2. Nature 1995;378:789-92.
9. Ford D, Easton DF, Stratton M, Narod S, Goldgar D, Devilee P, Bishop DT, Weber B, Lenoir G, Chang-Claude J, Sobol H, Teare MD, Struewing J, Arason A, Scherneck S, Peto J, Rebbeck TR, Tonin P, Neuhausen S, Barkardottir R, Eyfjord J, Lynch H, Ponder BA, Gayther SA, Zelada-Hedman M. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 1998;62:676-89.
10. Antoniuo AC, Pharoah PD, McMullan G, Day NE, Ponder BA, Easton D. Evidence for further breast cancer susceptibility genes in addition to BRCA1 and BRCA2 in a population-based study. Genet Epidemiol 2001;21:1-18.
11. McIntosh A, Shaw C, Evans G, Turnbull N, Bahar N, Barclay M, Easton D, Emery J, Gray J, Halpin J, Hopwood P, McKay J, Sheppard C, Sibbering M, Watson W, Wailoo A, Hutchinson A. Clinical guidelines and evidence review for the classification and care of women at risk of familial breast cancer (NICE guideline CG014). London: National Collaborating Centre for Primary Care, University of Sheffield, 2004, www.nice.org.uk (accessed 4 Sep 2006).
12. Struewing JP, Hartge P, Wacholder S, Baker SM, Berlin M, McAdams M, Timmerman MM, Brody LC, Tucker MA. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med 1997;336:1401-8.
13. Warner E, Foulkes W, Goodwin P, Meschino W, Blondal J, Paterson C, Ozcelik H, Goss P, Allingham-Hawkins D, Hamel N, Di Prospero L, Contiga V, Serruya C, Klein M, Moslehi R, Honeyford J, Liede A, Glendon G, Brunet JS, Narod S. Prevalence and penetrance of BRCA1 and BRCA2 gene mutations in unselected Ashkenazi Jewish women with breast cancer. J Natl Cancer Inst 1999;91:1241-7.
14. Hopper JL, Southey MC, Dite GS, Jolley DJ, Giles GG, McCredie MR, Easton DF, Venter DJ. Population-based estimate of the average age-specific cumulative risk of breast cancer for a defined set of protein-truncating mutations in BRCA1 and BRCA2. Australian Breast Cancer Family Study. Cancer Epidemiol Biomarkers Prev 1999;8:741-7.
15. The Breast Cancer Linkage Consortium. Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst 1999;91:1310-16.
16. Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE. Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet 1994;343:692-5.
17. Begg CB. On the use of familial aggregation in population-based case probands for calculating penetrance. J Natl Cancer Inst 2002;94:1221-6.
18. Nathanson KL, Shugart YY, Omaruddin R, Szabo C, Goldgar D, Rebbeck TR, Weber BL. CGH-targeted linkage analysis reveals a possible BRCA1 modifier locus on chromosome 5q. Hum Mol Genet 2002;11:1327-32.
19. Kadouri L, Kote-Jarai Z, Hubert A, Durocher F, Abeliovich D, Glaser B, Hamburger T, Eeles RA, Peretz T. A single-nucleotide polymorphism in the RAD51 gene modifies breast cancer risk in BRCA2 carriers, but not in BRCA1 carriers or noncarriers. Br J Cancer 2004;90:2002-5.
20. Evans DG, Neuhausen SL, Bulman M, Young K, Gokhale D, Lalloo F. Haplotype and cancer risk analysis of two common mutations, BRCA1 4184del4 and BRCA2 2157delG, in high-risk northwest England breast/ovarian families. J Med Genet 2004;41:e21.
21. Tso AW, Rang R, Lo CY, Tan KC, Tiu SC, Wat NM, Xu JY, Villablanca A, Larsson C, Teh BT, Lam KS. Multiple endocrine neoplasia type 1 (MEN1): genetic and clinical analysis in the Southern Chinese. Clin Endocrinol (Oxford) 2003;59:129-35.
22. Burgess JR, Nord B, David R, Greenaway TM, Parameswaran V, Larsson C, Shepherd JJ, Teh BT. Phenotype and phenocopy: the relationship between genotype and clinical phenotype in a single large family with multiple endocrine neoplasia type 1 (MEN 1). Clin Endocrinol (Oxford) 2000;53:205- 11.
23. Moore RC, Xiang F, Monaghan J, Han D, Zhang Z, Edstrom L, Anvret M, Prusiner SB. Huntington disease phenocopy is a familial prion disease. Am J Hum Genet 2001;69:1385-8.
24. Borthwick KJ, Kandemir N, Topologlu R, Kornak U, Bakkaloglu A, Yordam N, Ozen S, Mocan H, Shah GN, Sly WS, Karet FE. A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis. J Med Genet 2003;40:115-21.
25. Liede A, Rehal P, Vesprini D, Jack E, Abrahamson J, Narod SA. A breast cancer patient of Scottish descent with germ-line mutations in BRCA1 and BRCA2. Am J Hum Genet 1998;62:1543-4.
26. Friedman E, Bar-Sade BR, Kruglikova A, Risel S, Levy-Lahad E, Halle D, Bar-On E, Gershoni-Baruch R, Dagan E, Kepten I, Peretz T, Lerer I, Wienberg N, Shushan A, Abeliovich AD. Double heterozygotes for the Ashkenazi founder mutations in BRCA1 and BRCA2 genes. Am J Hum Genet 1998;63:1224-7.
27. Liede A, Metcalfe K, Offit K, Brown K, Miller S, Narod SA, Moslehi R. A family with three germline mutations in BRCA1 and BRCA2. Clin Genet 1998;54:215-18.
28. Randall TC, Bell KA, Rebane BA, Rubin SC, Boyd J. Germline mutations of the BRCA1 and BRCA2 genes in a breast and ovarian cancer patient. Gynecol Oncol 1998;70:432-4.
29. Ganguly A, Citron M, Godmilow L, Ahrens M, Ganguly T. Caucasian family with two independent mutations: 2594delC in BRCA1 and 5392delAG in BRCA2 gene. Am J Med Genet 2001;101:146-52.
30. Frank TS, Deffenbaugh AM, Reid JE, Hulick M, Ward BE, Lingenfelter B, Gumpper KL, Scholl T, Tavtigian SV, Pruss DR, Critchfield GC. Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. J Clin Oncol 2002;20:1480-90.
31. Rebbeck TR. Inherited predisposition and breast cancer: modifiers of BRCA1/2-associated breast cancer risk. Environ Mol Mutagen 2002;39:228-34.
32. Rodriguez-Lopez R, Osorio A, Ribas G, Pollan M, Sanchez-Pulido L, de la Hoya M, Ruibal A, Zamora P, Arias JI, Salazar R, Vega A, Martinez JI, Esteban-Cardenosa E, Alonso C, Leton R, Urioste Azcorra M, Miner C, Armengod ME, Carracedo A, Gonzalez-Sarmiento R, Caldes T, Diez O, Benitez J. The variant E233G of the RAD51D gene could be a low-penetrance allele in high-risk breast cancer families without BRCA1/2 mutations. Int J Cancer 2004;110:845-9.
33. Hemminki K, Granstrom C. Familial breast cancer: scope for more susceptibility genes? Breast Cancer Res Treat 2003;82:17-22.
34. Easton DF, Ford D, Bishop DT. Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Am J Hum Genet 1995;56:265-71.
35. Reid S, Renwick A, Seal S, Baskcomb L, Barfoot R, Jayatilake H, Pritchard-Jones K, Stratton MR, Ridolfi-Luthy A, Rahman N, Breast Cancer Susceptibility Collaboration (UK), Familial Wilms Tumour Collaboration. Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumor. J Med Genet 2005;42:147-51.
36. Tryggvadottir L, Sigvaldason H, Olafsdottir GH, Jonasson JG, Jonsson T, Tulinius H, Eyfjord JE. Population-based study of changing breast cancer risk in Icelandic BRCA2 mutation carriers, 1920-2000. J Natl Cancer Inst 2006;98:116-22.
37. National Comprehensive Cancer Network. Clinical practice guidelines in oncology. Vol 1. Genetic/familial high-risk assessment: breast and ovarian, 2006. http://www.nccn.org/professionals/physician_gls/PDF/ genetics_screening.pdf
38. Hopper JL, Carlin JB. Familial aggregation of a disease consequent upon correlation between relatives in a risk factor measured on a continuous scale. Am J Epidemiol 1992;136:1138-47.
39. Dite GS, Jenkins MA, Southey MC, Hocking JS, Giles GG, McCredie MR, Venter DJ, Hopper JL. Familial risks, early-onset breast cancer, and BRCA1 and BRCA2 germline mutations. J Natl Cancer Inst 2003;95:448-57.
40. Mitchell G, Antoniou AC, Warren R, Peock S, Brown J, Davies R, Mattison J, Cook M, Warsi I, Evans DG, Eccles D, Douglas F, Paterson J, Hodgson S, Izalt L, Cole, T, Burgess L, EMBRACE Collaborators, Eeles R, Easton DF. Mammographic density and breast cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Res 2006;66:1866-72.
41. Lakhani SR, Van De Vijver MJ, Jacquemier J, Anderson TJ, Osin PP, McGuffog L, Easton DF. The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2. J Clin Oncol 2002;20:2310-18.
42. Evans DG, Bulman M, Young K, Gokhale D, Lalloo F. Sensitivity of BRCA1/2 mutation testing in 466 breast/ovarian cancer families. J Med Genet 2003;40:e107.