Probability of BRCA1/2 mutation varies with ovarian histology: Results from screening 442 ovarian cancer families

Clinical Genetics

Volumn 73, Issue 4, 2008, Pages 338-345

  Evans, D Gareth R ^a   Young, K ^a   Bulman, M ^a   Shenton, A ^a   Wallace, A ^a   Lalloo, A ^a  

^a ST MARY S HOSPITAL   (United Kingdom)

Author keywords

BRCA1; BRCA2; Manchester scoring system; Ovarian cancer

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

ADULT; ARTICLE; BREAST CANCER; CANCER SCREENING; FAMILIAL CANCER; FAMILY HISTORY; FEMALE; GENE AMPLIFICATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC RISK; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; JEW; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MULTIPLE LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATION RATE; MUTATIONAL ANALYSIS; OVARY CANCER; PRIORITY JOURNAL; PROBABILITY; UNITED KINGDOM;

BRCA1 PROTEIN; BRCA2 PROTEIN; BREAST NEOPLASMS; FEMALE; HUMANS; MIDDLE AGED; MUTATION; OVARIAN NEOPLASMS; OVARY; PROBABILITY; RETROSPECTIVE STUDIES; SENSITIVITY AND SPECIFICITY;

EID: 40749161574     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.00974.x     Document Type: Article

References (23)

1. Cancer Research UK. Retrieved December 2008, from http://www.cancer.org.uk.
2. American Cancer Society. Cancer facts and figures 2005. Atlanta, GA: American Cancer Society, 2005.
3. Ford D, Easton DF, Stratton M et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. Am J Hum Genet 1998: 62: 676-689.
4. Gayther SA, Russell P, Harrington P, Antoniou AC, Easton DF, Ponder BA. The contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer: No evidence for other ovarian cancer-susceptibility genes. Am J Hum Genet 1999: 65: 1021-1029.
5. Levy-Lahad E, Catane R, Eisenberg S et al. Founder BRCA1 and BRCA2 mutations in Ashkenazi Jews in Israel: Frequency and differential penetrance in ovarian cancer and in breast-ovarian cancer families. Am J Hum Genet 1997: 60: 1059-1067.
6. Szabo CI, King M-C. Population genetics of BRCA1 and BRCA2. Am J Hum Genet 1997: 60: 1013-1020.
7. Stratton JF, Gayther SA, Russell P et al. Contribution of BRCA1 mutations to ovarian cancer. N Engl J Med 1997: 336: 1125-1130.
8. Pal T, Permuth-Wey J, Betts JA et al. BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases. Cancer 2005: 104: 2807-2816.
9. Risch HA, McLaughlin JR, Cole DE et al. Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. Am J Hum Genet 2001: 68: 700-710.
10. Hirsh-Yechezkel G, Chetrit A et al. Population attributes affecting the prevalence of BRCA mutation carriers in epithelial ovarian cancer cases in Israel. Gynecol Oncol 2003: 89: 494-498.
11. Rafnar T, Benediktsdottir KR, Eldon BJ et al. BRCA2, but not BRCA1, mutations account for familial ovarian cancer in Iceland: A population-based study. Eur J Cancer 2004: 40: 2788-2793.
12. Couch FJ, Deshano ML, Blackwood MA et al. BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer. N Engl J Med 1997: 336: 1409-1415.
13. Parmigiani G, Berry D, Aguilar O. Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2. Am J Hum Genet 1998: 62: 145-158.
14. 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: 1480-1490.
15. Evans DG, Eccles DM, Rahman N et al. A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO. J Med Genet 2004: 41: 474-480.
16. Evans DG, Lalloo F, Wallace A, Rahman N. Update on the Manchester scoring system for BRCA1 and BRCA2 testing. J Med Genet 2005: 42: e39.
17. Smith A, Moran A, Boyd MC et al. The trouble with phenocopies: Are those testing negative for a family BRCA1/2 mutation really at polulation risk? J Med Genet 2007: 44 (1): 10-15.
18. Lakhani SR, Manek S, Penault-Llorca F et al. Pathology of ovarian cancers in BRCA1 and BRCA2 carriers. Clin Cancer Res 2004: 10: 2473-2481.
19. Rubin SC, Benjamin I, Behbakhat K et al. Clinical and pathological features of ovarian cancer in women with germ-line mutations of BRCA1. N Engl J Med 1996: 335: 1413-1416.
20. Shaw PA, McLaughlin JR, Zweemer RP et al. Histopathologic features of genetically determined ovarian cancer. Int J Gynecol Pathol 2002: 21: 407-411.
21. Pharoah PD, Easton DF, Stockton DL, Gayther S, Ponder BA. Survival in familial, BRCA1-associated, and BRCA2-associated epithelial ovarian cancer. United Kingdom Coordinating Committee for Cancer Research (UKCCCR) Familial Ovarian Cancer Study Group. Cancer Res 1999: 59: 868-871.
22. Werness BA, Ramus SJ, DiCioccio RA et al. Histopathology, FIGO Stage, and BRCA Mutation Status of Ovarian Cancers from the Gilda Radner Familial Ovarian Cancer Registry. Int J Gynecol Pathol 2004: 23: 29-34.
23. Lu KH, Cramer DW, Muto MG, Li EY, Niloff J, Mok SC. A population-based study of BRCA1 and BRCA2 mutations in Jewish women with epithelial ovarian cancer. Obstet Gynecol 1999: 93: 34-37.