Comparison of risk management strategies between women testing positive for a BRCA variant of unknown significance and women with known BRCA deleterious mutations

Genetics in Medicine

Volumn 16, Issue 12, 2014, Pages 896-902

  Garcia, Christine ^a   Lyon, Liisa ^b   Littell, Ramey D ^a   Powell, C Bethan ^a  

^a KAISER PERMANENTE   (United States)

^b DIVISION OF RESEARCH   (United States)

Author keywords

BRCA; breast cancer; ovarian cancer; risk reduction; variant of unknown significance

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; BRCA1 PROTEIN, HUMAN;

ADULT; ARTICLE; BREAST CANCER; DISEASE SURVEILLANCE; FEMALE; FOLLOW UP; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MAMMOGRAPHY; MEDICAL RECORD REVIEW; MIDDLE AGED; NUCLEAR MAGNETIC RESONANCE IMAGING; OVARY CANCER; RETROSPECTIVE STUDY; RISK REDUCING MASTECTOMY; RISK REDUCING SALPINGOOOPHORECTOMY; RISK REDUCTION; SALPINGOOOPHORECTOMY; TRANSVAGINAL ECHOGRAPHY; UNITED STATES; UTERINE TUBE LIGATION; COMPARATIVE STUDY; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETICS; HEALTH BEHAVIOR; MASTECTOMY; MUTATION; OVARIECTOMY; PROCEDURES; RISK; RISK MANAGEMENT; TREATMENT OUTCOME; TUMOR SUPPRESSOR GENE;

ADULT; BRCA1 PROTEIN; CALIFORNIA; FEMALE; GENES, BRCA1; GENETIC PREDISPOSITION TO DISEASE; HEALTH BEHAVIOR; HUMANS; MASTECTOMY; MIDDLE AGED; MUTATION; ODDS RATIO; OVARIECTOMY; POLYMORPHISM, GENETIC; RETROSPECTIVE STUDIES; RISK MANAGEMENT; TREATMENT OUTCOME;

EID: 84927559559     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2014.48     Document Type: Article

References (13)

1. Hereditary breast and ovarian cancer syndrome ACOG Committee on Practice Bulletin. Obstet Gynecol 2009;113:6-11
2. 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
3. Murray ML, Cerrato F, Bennett RL, Jarvik GP. Follow-up of carriers of BRCA1 and BRCA2 variants of unknown significance: variant reclassification and surgical decisions. Genet Med 2011;13:998-1005
4. NCCN Clinical Practice Guidelines in Oncology: Genetic/Familial High Risk Assessment: Breast and Ovarian. Version 1.2010. http://www.nccn.org/professionals/physician-gls/f-guidelines.asp. Accessed 13 December 2013
5. Schwartz MD, Isaacs C, Graves KD, et al. Long-term outcomes of BRCA1/BRCA2 testing: risk reduction and surveillance. Cancer 2012;118:510-517
6. Metcalfe KA, Birenbaum-Carmeli D, Lubinski J, et al.; Hereditary Breast Cancer Clinical Study Group. International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers. Int J Cancer 2008;122: 2017-2022
7. Beattie MS, Crawford B, Lin F, Vittinghoff E, Ziegler J. Uptake, time course, and predictors of risk-reducing surgeries in BRCA carriers. Genet Test Mol Biomarkers 2009;13:51-56
8. Friebel TM, Domchek SM, Neuhausen SL, et al. Bilateral prophylactic oophorectomy and bilateral prophylactic mastectomy in a prospective cohort of unaffected BRCA1 and BRCA2 mutation carriers. Clin Breast Cancer 2007;7:875-882
9. Metcalfe KA, Lubinski J, Ghadirian P, et al.; Hereditary Breast Cancer Clinical Study Group. Predictors of contralateral prophylactic mastectomy in women with a BRCA1 or BRCA2 mutation: the Hereditary Breast Cancer Clinical Study Group. J Clin Oncol 2008;26:1093-1097
10. Gordon NP. A Comparison of Sociodemographic and Health Characteristics of the Kaiser Permanente Northern California Membership Derived from Two Data Sources: The 2008 Member Health Survey and the 2007 California Health Interview Survey. Internal Division of Research report. Oakland, CA: Kaiser Permanente Division of Research; 2012 Jan. http://www.dor.kaiser.org/external/chis-mhs-comparison-2008/Accessed 4 January 2014
11. Ready K, Gutierrez-Barrera AM, Amos C, et al. Cancer risk management decisions of women with BRCA1 or BRCA2 variants of uncertain significance. Breast J 2011;17:210-212
12. Mannis GN, Fehniger JE, Creasman JS, Jacoby VL, Beattie MS. Risk-reducing salpingo-oophorectomy and ovarian cancer screening in 1077 women after BRCA testing. JAMA Intern Med 2013;173:96-103
13. Loescher LJ, Lim KH, Leitner O, Ray J, DSouza J, Armstrong CM. Cancer surveillance behaviors in women presenting for clinical BRCA genetic susceptibility testing. Oncol Nurs Forum 2009;36:E57-E67