Screening for 185delAG in the Ashkenazim

American Journal of Human Genetics

Volumn 60, Issue 5, 1997, Pages 1085-1098

  Richards, C Sue ^a   Ward, Patricia A ^a   Roa, Benjamin B ^a   Friedman, Lois C ^a   Boyd, Alfred A ^a   Kuenzli, Gretchen ^a   Dunn, J Kay ^a   Plon, Sharon E ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; BREAST CANCER; CANCER RISK; EDUCATION; FAMILY HISTORY; FEMALE; GENETIC COUNSELING; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; JEW; MALE; NORMAL HUMAN; OVARY CANCER; PRIORITY JOURNAL;

ADULT; AGED; AGED, 80 AND OVER; BREAST NEOPLASMS; DECISION MAKING; DEMOGRAPHY; FEMALE; GENES, BRCA1; GENETIC SCREENING; HUMANS; INFORMED CONSENT; JEWS; MALE; MIDDLE AGED; MUTATION; OVARIAN NEOPLASMS; PATIENT EDUCATION; PEDIGREE; PILOT PROJECTS; QUESTIONNAIRES; TEXAS;

EID: 0030982919     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (56)

1. American Cancer Society (1995) Cancer facts and figures. American Cancer Society, Atlanta
2. American Society of Human Genetics (1994) Statement of the American Society of Human Genetics on genetic testing for breast and ovarian cancer predisposition. Am J Hum Genet 55 (November): i-iv
3. Berman DB, Wagner-Costalas J, Schultz DC, Lynch HT, Daly M, Godwin AK (1996) Two distinct origins of a common BRCA1 mutation in breast-ovarian cancer families: a genetic study of 15 185delAG-mutation kindreds. Am J Hum Genet 58:1166-1176
4. Biesecker BB, Garber JE (1995) Testing and counseling adults for heritable cancer risk. Monogr Natl Cancer Inst 17:115-118
5. Breast Cancer Information Core (1996) http://www.nhhgri.nih .gov/Intramural_research/Lab_transfer/Bic
6. Castilla LH, Couch FJ, Erdos MR, Hoskins KF, Calzone K, Garber JE, Boyd J, et al (1994) Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. Nat Genet 8:387-391
7. Chaliki H, Loader S, Levenkron JC, Logan-Young W, Hall WJ, Rowley PT (1995) Women's receptivity to testing for a genetic susceptibility to breast cancer. Am J Public Health 85:1133-1135
8. Claus EB, Risch N, Thompson WD (1991) Genetic analysis of breast cancer in the Cancer and Steroid Hormone Study. Am J Hum Genet 48:232-242
9. Collins FS (1996) BRCA1 - lots of mutations, lots of dilemmas. N Engl J Med 334:186-188
10. Couch FJ, Farid LM, DeShano ML, Tavtigian SV, Calzone K, Campeau L, Peng Y, et al (1996a) BRCA2 germline mutations in male breast cancer cases and breast cancer families. Nat Genet 13:123-125
11. Couch FJ, Weber BL, Breast Cancer Information Core (1996b) Mutations and polymorphisms in the familial early onset breast cancer (BRCA1) gene. Hum Mutat 8:8-18
12. DeMarchi JM, Caskey CT, Richards CS (1996) Population-specific screening by mutation analysis for diseases frequent in Ashkenazi Jews. Hum Mutat 8:116-125
13. DeMarchi JM, Richards CS, Fenwick RG, Pace R, Beaudet AL (1994) A robotics-assisted procedure for large scale cystic fibrosis mutation analysis. Hum Mutat 4:281-290
14. Earley CL, Strong LC (1995) Certificates of confidentiality: a valuable tool for protecting genetic data. Am J Hum Genet 57:727-731
15. Easton DF, Bishop DT, Ford D, Crockford GP, 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
16. Easton DF, Ford D, Bishop DT, Breast Cancer Linkage Consortium (1995) Breast and ovarian cancer incidence in BRCA1-mutation carriers. Am J Hum Genet 56:265-271
17. FitzGerald MG, MacDonald DJ, Krainer M, Hoover I, O'Neil E, Unsal H, Silva-Arrieto S, et al (1996) Germ-line BRCA1 mutations in Jewish and non-Jewish women with early-onset breast cancer. N Engl J Med 334:143-149
18. Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DT, Breast Cancer Linkage Consortium (1994) Risks of cancer in BRCA1 mutation carriers. Lancet 343:692-695
19. Ford D, Easton DF, Petro J (1995) Estimates of the gene frequency of BRCA1 and its contribution to breast and ovarian cancer incidence. Am J Hum Genet 57:1457-1462
20. Friedman LS, Ostermeyer EA, Szabo CI, Dowd P, Lynch ED, Rowell SE, King MC (1994) Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. Nat Genet 8:399-404
21. Friedman LS, Szabo CI, Ostermeyer EA, Dowd P, Butler L, Park T, Lee MK, et al (1995) Novel inherited mutations and variable expressivity of BRCA1 alleles, including the founder mutation 185delAG in Ashkenazi Jewish families. Am J Hum Genet 57:1284-1297
22. Geller G, Bernhardt BA, Helzlsouer K, Holtzman N, Stefanek M, Wilsox PM (1995) Informed consent and BRCA1 testing. Nat Genet 11:364
23. Gold RJM, Maag UR, Neal JL, Scriver CR (1974) The use of biochemical data in screening for mutant alleles and in genetic counseling. Ann Hum Genet 37:315-326
24. Helmrich SP, Shapiro S, Rosenberg L, Kaufman DW, Slone D, Bain C, Miettinen OS, et al (1983) Risk factors for breast cancer. Am J Epidemiol 117:35-45
25. Hoskins KF, Stopfer JE, Calzone KA, Merajver SD, Rebbeck TR, Garber JE, Weber BL (1995) Assessment and counseling for women with a family history of breast cancer. JAMA 273:577-585
26. King MC, Rowell SE, Love SM (1993) Inherited breast and ovarian cancer: what are the risks? what are the choices? JAMA 269:1975-1980
27. Kleinbaum DG, Kupper LL, Morgenstern H (1982) Epidemiologic research principles and quantitative methods. Lifetime Learning, Belmont, CA
28. Kuska (1995) BRCA1 discovery aftermath: no rush for genetic testing. J Natl Cancer Inst 87:1578-1579
29. Langston AA, Malone KE, Thompson JD, Daling JR, Ostrander EA (1996) BRCA1 mutations in a population-based sample of young women with breast cancer. N Engl J Med 334:137-142
30. Lerman C, Daly M, Masny A, Balshem A (1994) Attitudes about genetic testing for breast-ovarian cancer susceptibility. J Clin Oncol 12:843-850
31. Lerman C, Narod S, Schulman K, Hughes C, Gomez-Caminero A, Bonney G, Gold K, et al (1996) BRCA1 testing in families with hereditary breast-ovarian cancer. JAMA 275: 1885-1892
32. Lerman C, Seay J, Balshem A, Audrain J (1995) Interest in genetic testing among first-degree relatives of breast cancer patients. Am J Med Genet 57:385-392
33. Marks JH, Heimler A, Reich E, Wexler NS, Ince SE (1989) Genetic counseling principles in action: a casebook. Birth Defects 25:1-142
34. Masood E (1996) Gene tests: who benefits from risk? Nature 379:389-392
35. Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, et al (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266:66-71
36. Narod SA, Ford D, Devilee P, Barkardottir RB, Lynch HT, Smith SA, Ponder BAJ, et al ( 1995) An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. Am J Hum Genet 56:254-264
37. National Advisory Council for Human Genome Research (1994) Statement on use of DNA testing for presymptomatic identification of cancer risk. JAMA 271:785
38. National Breast Cancer Coalition (1995) Presymptomatic genetic testing for heritable breast cancer risk. Press release, Washington, DC, September 28
39. Neuhausen S, Gilewski T, Norton L, Tran T, McGuire P, Swensen J, Hampel H, et al (1996) Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer. Nat Genet 13:126-128
40. Newman B, Austin MA, Lee M, King MC (1988) Inheritance of human breast cancer: evidence for autosomal dominant transmission in high-risk families. Proc Natl Acad Sci USA 85: 3044-3048
41. Oddoux C, Struewing JP, Clayton CM, Neuhausen S, Brody LC, Kaback M, Haas B, et al (1996) The carrier frequency of the BRCA2 6174delT mutation among Jewish individuals is approximately 1%. Nat Genet 14:188-190
42. Offit K, Brown K (1994) Quantitating familial cancer risk: a resource for clinical oncologists. J Clin Oncol 12:1724-1736
43. Peters J, Stopfer J (1996) Role of the genetic counselor in familial cancer. Oncology 10:159-175
44. Rebbeck TR, Couch FJ, Kant J, Calzone K, DeShano M, Peng Y, Chen K, et al (1996) Genetic heterogeneity in breast cancer: role of BRCA1 and BRCA2. Am J Hum Genet 59: 547-553
45. Roa BB, Boyd AA, Volcik K, Richards CS (1996) Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet 14:185-187
46. Rosner B (1995) Fundamental of biostatistics, 4th ed. Duxbury, Belmont, CA
47. Rothstein MA (1995) Genetic testing: employability, insurability, and health reform. Monogr Natl Cancer Inst 17:87-90
48. Shattuck-Eidens D, McClure M, Simard J, Labrie F, Narod S, Couch F, Hoskins K, et al (1995) A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene: implications for presymptomatic testing and screening. JAMA 273:535-541
49. Simard J, Tonin P, Durocher F, Morgan K, Rommens J, Gingras S, Samson C, et al (1994) Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families. Nat Genet 8:392-398
50. Struewing JP, Abeliovich D, Peretz T, Avishai N, Kaback MM, Collins FS, Brody LC (1995a) The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet 11:198-200
51. Struewing JP, Brody LC, Erdos MR, Kase RG, Giambarresi TR, Smith SA, Collins FS, et al (1995b) Detection of eight BRCA1 mutations in 10 breast/ovarian cancer families, including 1 family with male breast cancer. Am J Hum Genet 57:1-7
52. Szabo CI, King MC (1995) Inherited breast and ovarian cancer. Hum Mol Genet 4:1811-1817
53. Tavtigian SV, Simard J, Rommens J, Couch F, Shattuch-Eidens D, Neuhausen S, Merajver S, et al (1996) The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. Nat Genet 12:333-337
54. Tonin P, Serova O, Lenoir G, Lynch H, Durocher F, Simard J, Morgan K, et al (1995) BRCA1 mutations in Ashkenazi Jewish women. Am J Hum Genet 57:189
55. Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Manglon J, Collins N, et al (1995) Identification of the breast cancer susceptibility gene BRCA2. Nature 378:789-792
56. Wooster R, Neuhausen SL, Mangion J, Quirk Y, Ford D, Collins N, Nguyen K, et al (1994) Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science 265:2088-2090