The prevalence of common BRCA 1 and BRCA2 mutations among Ashkenazi Jews

American Journal of Human Genetics

Volumn 64, Issue 4, 1999, Pages 963-970

  Hartge, Patricia ^a,c   Struewing, Jeffery P ^a   Wacholder, Sholom ^a   Brody, Lawrence C ^b   Tucker, Margaret A ^a  

^a NATIONAL CANCER INSTITUTE   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; BREAST CANCER; CANCER RISK; FEMALE; GENE MUTATION; HIGH RISK POPULATION; HUMAN; JEW; MAJOR CLINICAL STUDY; MALE; ONCOGENE; OVARY CANCER; PRIORITY JOURNAL; AGE; BREAST TUMOR; FAMILY HEALTH; FOUNDER EFFECT; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; HETEROZYGOTE; INFORMATION PROCESSING; MIDDLE AGED; MUTATION; OVARY TUMOR; PREVALENCE; PROSTATE TUMOR; QUESTIONNAIRE; TUMOR SUPPRESSOR GENE; UNITED STATES;

BRCA2 PROTEIN; TRANSCRIPTION FACTOR; TUMOR PROTEIN;

ADULT; AGE FACTORS; BRCA2 PROTEIN; BREAST NEOPLASMS; DATA COLLECTION; DISTRICT OF COLUMBIA; FAMILY HEALTH; FEMALE; FOUNDER EFFECT; GENE FREQUENCY; GENES, BRCA1; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HETEROZYGOTE; HUMANS; JEWS; MALE; MIDDLE AGED; MUTATION; NEOPLASM PROTEINS; OVARIAN NEOPLASMS; PREVALENCE; PROSTATIC NEOPLASMS; QUESTIONNAIRES; TRANSCRIPTION FACTORS;

EID: 0033237314     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302320     Document Type: Article

References (23)

1. Beller U, Halle D, Catane R, Kaufman B, Hornreich G, Levy-Lahad E (1997) High frequency of BRCA1 and BRCA2 germline mutations in Ashkenazi Jewish ovarian cancer patients, regardless of family history. Gynecol Oncol 67: 123-126
2. Berry DA, Parmigiani G, Sanchez J, Schildkraut J, Winer E (1997) Probability of carrying a mutation of breast-ovarian cancer gene BRCA1 based on family history. J Natl Cancer Inst 89:227-238
3. Breiman L, Friedman JH, Olshen RA, Stone CJ (1984) Classification and regression trees. Wadsworth and Brooks/Cole Advanced Book and Software, Pacific Grove, California
4. Couch FJ, DeShano ML. Blackwood MA, Calzone K, Stopfer J, Campeau L, Ganguly A, et al (1997) BRCA1 mutation in women attending clinics that evaluate the risk of breast cancer. N Engl J Med 336:1409-1415
5. Fodor FH, Weston A, Bleiweiss IJ, McCurdy LD, Walsh MM, Tarter PI, Brower ST, et al (1998) Frequency and carrier risk associated with common BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer patients. Am J Hum Genet 63:45-51
6. Frank TS, Manlet SA, Olufunmilayo IO, Cummings S, Garger JE, Bernhardt B, Antman K, et al (1998) Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk. J Clin Oncol 16:2417-2425
7. Gayther SA, Mangion J, Russell P, Seal S, Barfoot R, Ponder BA, Stratton MR, et al (1997) Variation of risks of breast and ovarian cancer associated with different germline mutation of the BRCA2 gene. Nat Genet 15:103-105
8. Lee JS, Struewing JP, Wacholder S, McAdams M, Pee D, Brody LC, Tucker M, et al (1999) Survival after breast cancer in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 91:259-263
9. Lerman C, Narod S, Schulman K, Hughes C, Gomez-Caminero A, Bonny G, Gold K, et al (1996) BRCA1 testing in families with hereditary breast-ovarian cancer: a prospective study of patient decision making and outcomes. JAMA 275: 1885-1892
10. Levy-Lahad E, Catane R, Eisenberg S, Kaufman B, Hornreich G, Lishinsky E, Shohat M, et al (1997) Founder BRCA1 and BRCA2 mutation in Ashkenazi Jews in Israel: frequency and differential penetrance in ovarian cancer and breast ovarian cancer families. Am J Hum Genet 60:1059-1067
11. Miki Y, Swensen J, Shattuck-Eidens D (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266:66-71
12. Modan B, Gak E, Sade-Bruchim RB, Hirsh-Yechezkel G, Theodor L, Lubin F, Ben-Baruch G, et al (1996) High frequency of BRCA1 185delAG mutation in ovarian cancer in Israel. JAMA 276:1823-1825
13. Oddoux C, Struewing JP, Clayton CM, Neuhasen S, Brody LC, Kaback M, Haas B, et al (1996) The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals in approximately 1%. Nat Genet 14:188-190
14. Offit K, Gilewski T, McGuire P, Schluger A, Hampel H, Brown K, Swensen J, et al (1996) Germline BRCA1 185delAG mutations in Jewish women with breast cancer. Lancet 347: 1643-1645
15. Richards CS, Ward PA, Roa BB, Friedman LC, Boyd AA, Kuenzli G, Dunn JK, et al (1997) Screening for 185delAG in the Ashkenazim. Am J Hum Genet 60:1085-1098
16. Shattuck-Eidens D, Oliphant A, McClure M, McBride C, Gupte J, Rubano T, Pruss D, et al (1997) BRCA1 sequence analysis in women at high risk for susceptibility mutations: risk factor analysis and implication for genetic testing. JAMA 278:1242-1250
17. Struewing JP, Abeliovich D, Peretz T, Avishai N, Kaback MM, Collin FS, Brody LC, et al (1995) The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet 11:198-200
18. Struewing JP, Hartge P, Wacholder S, Baker SM, Berlin M, McAdams M, Timmerman MM, et al (1997) The risk of cancer associated with specific mutation of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med 336: 1401-1408
19. Thorlacius S, Struewing JP, Hartge P, Olafsdottir GH, Sigvaldason H, Tryggvadottir L, Wacholder S, et al (1998) Population-based study of risk of breast cancer in carriers of BRCA2 mutation. Lancet 352:1337-39
20. Wacholder S (1986) Binomial regression in GLIM: estimating risk ratios and risk differences. Am J Epidemiol 123: 174-184
21. Wacholder S, Hartge P, Struewing JP, Pee D, McAdams M, Brody L, Tucker M (1998) The kin-cohort study for estimating penetrance. Am J Epidemiol 148:623-630
22. Whittemore AS, Gong G, Itnyre J (1997) Prevalence and contribution of BRCA1 mutation in breast cancer and ovarian cancer: results of three US population-based case-control studies of ovarian cancer. Am J Hum Genet 60:496-504
23. Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, Collins N, et al (1995) Identification of the breast cancer susceptibility gene BRCA2. Nature 378:789-792