Precision medicine meets public health: Population screening for BRCA1 and BRCA2

Journal of the National Cancer Institute

Volumn 107, Issue 1, 2015, Pages

  Levy Lahad, Ephrat ^a,b   Lahad, Amnon ^b,c   King, Mary Claire ^d  

^a SHAARE ZEDEK MEDICAL CENTER   (Israel)

^b HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^c CLALIT HEALTH SERVICES   (Israel)

^d UNIVERSITY OF WASHINGTON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; BRCA1 PROTEIN, HUMAN; BRCA2 PROTEIN, HUMAN;

BREAST CANCER; CANCER PREVENTION; CANCER RISK; CANCER SCREENING; CANCER SUSCEPTIBILITY; COST EFFECTIVENESS ANALYSIS; EDITORIAL; FAMILY HISTORY; GENE MUTATION; GENETIC COUNSELING; GENETIC EPIDEMIOLOGY; GENETIC SCREENING; HETEROZYGOTE; HUMAN; OVARY CANCER; PATIENT REFERRAL; PRIORITY JOURNAL; PUBLIC HEALTH; QUALITY ADJUSTED LIFE YEAR; RISK REDUCTION; SALPINGOOOPHORECTOMY; SENSITIVITY ANALYSIS; AGE; BREAST NEOPLASMS; EARLY DIAGNOSIS; FEMALE; GENETIC PREDISPOSITION; GENETICS; HEALTH SURVEY; JEW; MASS SCREENING; MUTATION; OVARIAN NEOPLASMS; PROCEDURES; RISK ASSESSMENT; TRENDS;

AGE FACTORS; BRCA1 PROTEIN; BRCA2 PROTEIN; BREAST NEOPLASMS; EARLY DETECTION OF CANCER; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HETEROZYGOTE; HUMANS; JEWS; MASS SCREENING; MUTATION; OVARIAN NEOPLASMS; POPULATION SURVEILLANCE; PUBLIC HEALTH; RISK ASSESSMENT;

EID: 84930436166     PISSN: 00278874     EISSN: 14602105     Source Type: Journal    
DOI: 10.1093/jnci/dju420     Document Type: Editorial

References (20)

1. Genetics of Breast and Ovarian Cancer (PDQ®). http://www.cancer.gov/cancertopics/pdq/genetics/breast-and-ovarian/HealthProfessional/. Accessed December 11, 2014.
2. Statement of the American Society of Clinical Oncology: genetic testing for cancer susceptibility, February 20, 1996. J Clin Oncol. 1996;14(5):1730-1736; discussion 1737-1740.
3. King MC, Marks JH, Mandell JB, New York Breast Cancer Study Group. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science. 2003;302:643-646.
4. Walsh T, Casadei S, Lee MK, et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci U S A. 2011;108(44):18032-18037.
5. Kaufman B, Shapira-Frommer R, Schmutzler RK, et al. Olaparib Monotherapy in Patients With Advanced Cancer and a Germline BRCA1/2 Mutation. J Clin Oncol. 2014; In press.
6. Daly MB, Pilarski R, Axilbund JE, et al. Genetic/familial highrisk assessment: breast and ovarian, version 1.2014. J Natl Compr Canc Netw. 2014;12(9):1326-1338.
7. Moyer VA. Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U. S. Preventive Services Task Force recommendation statement. Ann Intern Med. 2014;160(4):271-281.
8. Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: recommendation statement. Ann Intern Med. 2005;143(5):355-361.
9. Gabai-Kapara E, Lahad A, Kaufman B, et al. Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2. Proc Natl Acad Sci U S A. 2014;111(39):14205-14210.
10. Weitzel JN, Lagos VI, Cullinane CA, et al. Limited family structure and BRCA gene mutation status in single cases of breast cancer. JAMA. 2007;297:2587-2595.
11. King MC, Levy-Lahad E, Lahad A. Population-based screening for BRCA1 and BRCA2:2014 Lasker Award. JAMA. 2014;312(11):1091-1092.
12. Manchanda R, Loggenberg K, Sanderson S, Burnell M, et al. Population testing for cancer predisposing BRCA1/BRCA2 mutations in the Ashkenazi-Jewish community: a randomized controlled trial. J Natl Cancer Inst 2015;107(1):dju379 doi:10.1093/jnci/dju379.
13. Manchanda R, Legood R, Burnell M, McGuire A, et al. Cost effectiveness of population screening for BRCA mutations in Ashkenazi-Jewish women compared to family-history based testing. J Natl Cancer Inst. 2015;107(1):dju380 doi:10.1093/jnci/dju380.
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(6):1480-1490.
15. Khoury MJ, Gwinn M, Yoon PW, et al. The continuum of translation research in genomic medicine: how can we accelerate the appropriate integration of human genome discoveries into health care and disease prevention? Genet Med. 2007;9(10):665-674.
16. Domchek SM, Friebel TM, Singer CF, et al. Association of riskreducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA. 2010;304:967-975.
17. Finch AP, Lubinski J, Moller P, et al. Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation. J Clin Oncol. 2014;32(15):1547-1553.
18. de Bock GH, Vermeulen KM, Jansen L, et al. Which screening strategy should be offered to women with BRCA1 or BRCA2 mutations? A simulation of comparative cost-effectiveness. Br J Cancer. 2013;108(8):1579-1586.
19. Wang C, Gonzalez R, Milliron KJ, et al. Genetic counseling for BRCA1/2: a randomized controlled trial of two strategies to facilitate the education and counseling process. Am J Med Genet A. 2005;134A(1):66-73.
20. Schwartz MD, Valdimarsdottir HB, Peshkin BN, et al. Randomized noninferiority trial of telephone versus in-person genetic counseling for hereditary breast and ovarian cancer. J Clin Oncol. 2014;32(7):618-626.