BRCA1 and BRCA2 mutation testing in young women with breast cancer

JAMA Oncology

Volumn 2, Issue 6, 2016, Pages 730-736

  Rosenberg, Shoshana M ^a   Ruddy, Kathryn J ^b   Tamimi, Rulla M ^c   Gelber, Shari ^a   Schapira, Lidia ^d   Come, Steven ^e   Borges, Virginia F ^f   Larsen, Bryce ^a   Garber, Judy E ^a   Partridge, Ann H ^a  

^a DANA FARBER CANCER INSTITUTE   (United States)

^b MAYO CLINIC   (United States)

^c BRIGHAM AND WOMEN S HOSPITAL   (United States)

^d MASSACHUSETTS GENERAL HOSPITAL   (United States)

^e BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

^f UNIVERSITY OF COLORADO CANCER CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA1 PROTEIN, HUMAN; BRCA2 PROTEIN;

ADULT; BREAST NEOPLASMS; FEMALE; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; HUMAN; MUTATION; PATHOLOGY; RISK FACTOR; YOUNG ADULT;

ADULT; BRCA1 PROTEIN; BRCA2 PROTEIN; BREAST NEOPLASMS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; MUTATION; RISK FACTORS; YOUNG ADULT;

EID: 85010637341     PISSN: 23742437     EISSN: 23742445     Source Type: Journal    
DOI: 10.1001/jamaoncol.2015.5941     Document Type: Article

References (22)

1. Bleyer A, Barr R. Cancer in young adults 20 to 39 years of age: overview. Semin Oncol. 2009;36(3): 194-206.
2. National Comprehensive Cancer Network (NCCN) clinical practices guidelines in oncology: genetic/familial high-risk assessment: breast and ovarian. Version 2.2015. http://www.nccn.org /professionals/physician-gls/pdf/genetics-screening .pdf. Accessed January 5, 2016.
3. Malone KE, Begg CB, Haile RW, et al. Population-based study of the risk of second primary contralateral breast cancer associated with carrying a mutation in BRCA1 or BRCA2. J Clin Oncol. 2010;28(14):2404-2410.
4. Brown KL, Hutchison R, Zinberg RE, McGovern MM. Referral and experience with genetic testing among women with early onset breast cancer. Genet Test. 2005;9(4):301-305.
5. Ruddy KJ, Gelber S, Shin J, et al. Genetic testing in young women with breast cancer: results from a Web-based survey. Ann Oncol. 2010;21(4):741-747.
6. Stuckey A, Febbraro T, Laprise J,Wilbur JS, Lopes V, Robison K. Adherence patterns to National Comprehensive Cancer Network Guidelines for referral of women with breast cancer to genetics professionals [published online April 5, 2015]. Am J Clin Oncol. doi:10.1097/COC.0000000000000073.
7. Peters N, Domchek SM, Rose A, Polis R, Stopfer J, Armstrong K. Knowledge, attitudes, and utilization of BRCA1/2 testing among women with early-onset breast cancer. Genet Test. 2005;9(1): 48-53.
8. Jolie A. My medical choice. New York Times. May 14, 2013:A25.
9. Evans DGR, Barwell J, Eccles DM, et al; FH02 Study Group; RGC Teams. The Angelina Jolie effect: how high celebrity profile can have a major impact on provision of cancer related services. Breast Cancer Res. 2014;16(5):442.
10. Raphael J, Verma S, Hewitt P, Eisen A. The impact of Angelina Jolie's (AJ) story on genetic referral and testing at an academic cancer centre. J Clin Oncol. 2014;32(suppl 26):abstract 44.
11. Weitzel JN, McCaffrey SM, Nedelcu R, MacDonald DJ, Blazer KR, Cullinane CA. Effect of genetic cancer risk assessment on surgical decisions at breast cancer diagnosis. Arch Surg. 2003;138(12): 1323-1328.
12. WeversMR, Hahn DE, Verhoef S, et al. Breast cancer genetic counseling after diagnosis but before treatment: a pilot study on treatment consequences and psychological impact. Patient Educ Couns. 2012;89(1):89-95.
13. Zilliacus E, Meiser B, Gleeson M, et al. Are we being overly cautious? a qualitative inquiry into the experiences and perceptions of treatment-focused germline BRCA genetic testing amongst women recently diagnosed with breast cancer. Support Care Cancer. 2012;20(11):2949-2958.
14. SchwartzMD, Lerman C, Brogan B, et al. Impact of BRCA1/BRCA2 counseling and testing on newly diagnosed breast cancer patients. J Clin Oncol. 2004;22(10):1823-1829.
15. Lokich E, Stuckey A, Raker C,Wilbur JS, Laprise J, Gass J. Preoperative genetic testing affects surgical decision making in breast cancer patients. Gynecol Oncol. 2014;134(2):326-330.
16. Elsayegh N, Kuerer HM, Lin H, et al. Predictors that influence contralateral prophylactic mastectomy election among women with ductal carcinoma in situ who were evaluated for BRCA genetic testing. Ann Surg Oncol. 2014;21(11):3466-3472.
17. Howard-McNattM, Schroll RW, Hurt GJ, Levine EA. Contralateral prophylactic mastectomy in breast cancer patients who test negative for BRCA mutations. Am J Surg. 2011;202(3):298-302.
18. Rosenberg SM, TracyMS, MeyerME, et al. Perceptions, knowledge, and satisfaction with contralateral prophylactic mastectomy among young women with breast cancer: a cross-sectional survey. Ann Intern Med. 2013;159(6):373-381.
19. Nichols HB, Berrington de González A, Lacey JV Jr, Rosenberg PS, Anderson WF. Declining incidence of contralateral breast cancer in the United States from 1975 to 2006. J Clin Oncol. 2011;29(12):1564-1569.
20. Kurian AW, Lichtensztajn DY, Keegan TH, Nelson DO, Clarke CA, Gomez SL. Use of and mortality after bilateral mastectomy compared with other surgical treatments for breast cancer in California, 1998-2011. JAMA. 2014;312(9):902-914.
21. Trainer AH, Lewis CR, Tucker K, Meiser B, Friedlander M,Ward RL. The role of BRCA mutation testing in determining breast cancer therapy. Nat Rev Clin Oncol. 2010;7(12):708-717.
22. Gronwald J, TungN, FoulkesWD, et al; Hereditary Breast Cancer Clinical Study Group. Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: an update. Int J Cancer. 2006; 118(9):2281-2284.