BRCA sequencing and large rearrangement testing in young Black women with breast cancer

Journal of Community Genetics

Volumn 5, Issue 2, 2014, Pages 157-165

  Pal, Tuya ^a   Bonner, Devon ^a   Cragun, Deborah ^a   Johnson, Sharland ^a   Akbari, Mohammad ^b   Servais, Lily ^c   Narod, Steven ^b   Vadaparampil, Susan ^a  

^a H LEE MOFFITT CANCER CENTER AND RESEARCH INSTITUTE   (United States)

^b WOMEN S COLLEGE HOSPITAL   (Canada)

^c DNA Direct Inc   (United States)

Author keywords

Black women; BRCA testing; Breast cancer; Cancer registry; Genetic counseling

Indexed keywords

ADULT; ARTICLE; BRCA GENE; BREAST CANCER; CANCER REGISTRY; CANCER RISK; FAMILY HISTORY; FEMALE; GENE MUTATION; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC COUNSELING; GENETIC SCREENING; HEALTH CARE ACCESS; HIGH RISK PATIENT; HUMAN; MAJOR CLINICAL STUDY; NEGRO; ONCOGENE; ONSET AGE; PATIENT ASSESSMENT; PEDIGREE ANALYSIS; PRACTICE GUIDELINE; PRIORITY JOURNAL; RISK ASSESSMENT; SALIVA ANALYSIS; TUMOR INVASION; TUMOR SUPPRESSOR GENE;

EID: 84899102829     PISSN: 1868310X     EISSN: 18686001     Source Type: Journal    
DOI: 10.1007/s12687-013-0166-9     Document Type: Article

References (44)

1. Breast Center Standards Manual through the National Accrreditation Program for Breast Centers (NAPBC). (2012) 2012 American College of Surgeons. http://napbc-breast.org/standards/2012standardsmanual.pdf. Accessed Feb 1 2013
2. ACOG Practice Bulletin No. 103: Hereditary breast and ovarian cancer syndrome (2009) Obstet. Gynecol 113(4):957-966
3. American Cancer Society I (2009) Cancer facts and figures for African Americans 2009-2010. American Cancer Society, Inc. http://www.cancer.org/ docroots/STT/stt-0.asp. Accessed 2009 2009
4. American Cancer Society I (2011) Cancer facts and figures 2011. American Cancer Society, Inc. http://www.cancer.org/docroots/STT/stt-0.asp. Accessed 2011 2011
5. American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility (2003) J Clin Oncol 21(12):2397-2406
6. Anderson B, McLosky J, Wasilevich E, Lyon-Callo S, Duquette D, Copeland G (2012) Barriers and facilitators for utilization of genetic counseling and risk assessment services in young female breast cancer survivors. J Cancer Epidemiol 2012:298745. doi:10.1155/2012/298745
7. Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, Loman N, Olsson H, Johannsson O, Borg A, Pasini B, Radice P, Manoukian S, Eccles DM, Tang N, Olah E, Anton-Culver H, Warner E, Lubinski J, Gronwald J, Gorski B, Tulinius H, Thorlacius S, Eerola H, Nevanlinna H, Syrjakoski K, Kallioniemi OP, Thompson D, Evans C, Peto J, Lalloo F, Evans DG, Easton DF (2003) Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 72(5):1117-1130 (Pubitemid 36530000)
8. Berliner JL, Fay AM (2007) Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors. J Genet Couns 16(3):241-260 (Pubitemid 46878636)
9. Cancer-related Genetic Testing and Counseling: Workshop Proceedings. (2007) National Academies Press. http://www.nap.edu/catalog/11971.html. Accessed October 17 2011
10. Carey LA, Perou CM, Livasy CA, Dressler LG, Cowan D, Conway K, Karaca G, Troester MA, Tse CK, Edmiston S, Deming SL, Geradts J, Cheang MC, Nielsen TO, Moorman PG, Earp HS, Millikan RC (2006) Race, breast cancer subtypes, and survival in the Carolina Breast Cancer Study. JAMA 295(21):2492-2502 (Pubitemid 43854964)
11. Chen S, Parmigiani G (2007) Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol 25(11):1329-1333 (Pubitemid 46706879)
12. Duquette D, Lewis K, McLosky J, Bach J (2012) Using core public health functions to promote BRCA best practices among health plans. Public health Genomics 15(2):92-97. doi:10.1159/000334267
13. Evans D, Eccles DM, Rahman N, Young K, Bulman M, Amir E, Shenton A, Howell A, Lalloo F (2004) A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRACAPRO. J Med Genet 41(6):474-480. doi:10.1136/jmg.2003.017996 (Pubitemid 38788046)
14. Evans D, Laloo F, Wallace A, Rahman N (2005) Update on the Manchester Scoring System for BRCA1 and BRCA2 testing. J Med Genet 42(7):e39. doi:10.1136/jmg.2005.031989
15. Force USPST (2005) Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: recommendation statement. Ann Intern Med 143(5):355-361
16. Genetic/Familial High-risk Assessment: Breast and Ovarian. (2012) National Comprehensive Cancer Network. http://www.nccn.org/professionals/ physician-gls/recently-updated.asp. Accessed May 21 2012
17. Graeser MK, Engel C, Rhiem K, Gadzicki D, Bick U, Kast K, Froster UG, Schlehe B, Bechtold A, Arnold N, Preisler-Adams S, Nestle-Kraemling C, Zaino M, Loeffler M, Kiechle M, Meindl A, Varga D, Schmutzler RK (2009) Contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers. J Clin Oncol 27(35):5887-5892
18. Haffty BG, Choi DH, Goyal S, Silber A, Ranieri K, Matloff E, Lee MH, Nissenblatt M, Toppmeyer D, Moran MS (2009) Breast cancer in young women (YBC): prevalence of BRCA1/2 mutations and risk of secondary malignancies across diverse racial groups. Ann Oncol 20(10):1653-1659
19. Hall MJ, Reid JE, Burbidge LA, Pruss D, Deffenbaugh AM, Frye C, Wenstrup RJ, Ward BE, Scholl TA, Noll WW (2009) BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer. Cancer 115(10):2222-2233
20. John EM, Miron A, Gong G, Phipps AI, Felberg A, Li FP, West DW, Whittemore AS (2007) Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups. JAMA 298(24):2869-2876
21. Judkins T, Rosenthal E, Arnell C, Burbidge LA, Geary W, Barrus T, Schoenberger J, Trost J, Wenstrup RJ, Roa BB (2012) Clinical significance of large rearrangements in BRCA1 and BRCA2. Cancer 118(21):5210-5216. doi:10.1002/cncr.27556
22. Kang P, Mariapun S, Phuah SY, Lim LS, Liu J, Yoon SY, Thong MK, Mohd Taib NA, Yip CH, Teo SH (2010) Large BRCA1 and BRCA2 genomic rearrangements in Malaysian high risk breast-ovarian cancer families. Breast Cancer Res Treat 124(2):579-584
23. Litton JK, Ready K, Chen H, Gutierrez-Barrera A, Etzel CJ, Meric-Bernstam F, Gonzalez-Angulo AM, Le-Petross H, Lu K, Hortobagyi GN, Arun BK (2011) Earlier age of onset of BRCA mutation-related cancers in subsequent generations. Cancer
24. Lund MJ, Butler EN, Bumpers HL, Okoli J, Rizzo M, Hatchett N, Green VL, Brawley OW, Oprea-Ilies GM, Gabram SG (2008) High prevalence of triple-negative tumors in an urban cancer center. Cancer 113(3):608-615
25. Malone KE, Begg CB, Haile RW, Borg A, Concannon P, Tellhed L, Xue S, Teraoka S, Bernstein L, Capanu M, Reiner AS, Riedel ER, Thomas DC, Mellemkjaer L, Lynch CF, Boice JD Jr, Anton-Culver H, Bernstein JL (2010) Population-based study of the risk of second primary contralateral breast cancer associated with carrying a mutation in BRCA1 or BRCA2. J Clin Oncol 28(14):2404-2410
26. Malone KE, Daling JR, Doody DR, Hsu L, Bernstein L, Coates RJ, Marchbanks PA, Simon MS, McDonald JA, Norman SA, Strom BL, Burkman RT, Ursin G, Deapen D, Weiss LK, Folger S, Madeoy JJ, Friedrichsen DM, Suter NM, Humphrey MC, Spirtas R, Ostrander EA (2006) Prevalence and predictors of BRCA1 and BRCA2 mutations in a population-based study of breast cancer in white and Black American women ages 35 to 64 years. Cancer Res 66(16):8297-8308 (Pubitemid 44299201)
27. Matloff E, Caplan A (2008) Direct to confusion: lessons learned from marketing BRCA testing. Am J Bioeth AJOB 8(6):5-8. doi:10.1080/15265160802248179
28. Myriad Genetics, Laboratories and Pharmaceuticals
29. Narod SA, Offit K (2005) Prevention and management of hereditary breast cancer. J Clin Oncol 23(8):1656-1663 (Pubitemid 46211420)
30. NCCN Guidelines Updated to Include BRAC Analysis® Large Rearrangement Test (BART ™). http://www.myriad.com/lib/brac/BART%20one%20sheet.pdf. Accessed January 11 2013
31. Newman LA (2005) Breast cancer in African-American women. Oncologist 10(1):1-14
32. Newman B, Mu H, Butler LM, Millikan RC, Moorman PG, King MC (1998) Frequency of breast cancer attributable to BRCA1 in a population-based series of American women. JAMA 279(12):915-921 (Pubitemid 28136080)
33. Pal T, Rocchio E, Garcia A, Rivers D, Vadaparampil S (2010) Recruitment of Black women for a study of inherited breast cancer using a cancer registry-based approach. Genetic testing and molecular biomarkers 15 (1-2):69-77
34. Pal T, Bonner D, Kim J, Monteiro AN, Kessler L, Royer R, Narod SA, Vadaparampil ST (2013a) Early onset breast cancer in a registry-based sample of African-American women: BRCA mutation prevalence, and other personal and system-level clinical characteristics. Breast J. doi:10.1111/tbj.12083
35. Pal T, Cragun D, Lewis C, Doty A, Rodriguez M, Radford C, Thompson Z, Kim J, Vadaparampil ST (2013b) A statewide survey of practitioners to assess knowledge and clinical practices regarding hereditary breast and ovarian cancer. Gene Test Mol Biomark. doi:10.1089/gtmb.2012.0381
36. Palma MD, Domchek SM, Stopfer J, Erlichman J, Siegfried JD, Tigges-Cardwell J, Mason BA, Rebbeck TR, Nathanson KL (2008) The relative contribution of point mutations and genomic rearrangements in BRCA1 and BRCA2 in high-risk breast cancer families. Cancer Res 68(17):7006-7014
37. Roa B, Rosenthal E, Arnell C, Burbidge LA, Geary W, Schoenberger J, Trost J, Wenstrup R, Judkins T (2011) BRCA1 and BRCA2 large genomic rearrangement testing in a large cohort of hereditary breast/ovarian cancer patients: prevalence and mutation profiles in riskstratified patient groups of different ethnicities. ASHG Abstract
38. Robson ME, Storm CD, Weitzel J, Wollins DS, Offit K (2010) American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. J Clin Oncol 28:893-901
39. Role of theOncology Nurse in Cancer Genetic Counseling. (2009). http://www.ons.org/Publications/Positions/GeneticCounseling/. Accessed October 17 2011
40. Rubinstein WS (2008) Roles and responsibilities of a medical geneticist. Familial Cancer 7(1):5-14. doi:10.1007/s10689-007-9148-6
41. Shannon KM, Rodgers LH, Chan-Smutko G, Patel D, Gabree M, Ryan PD (2011) Which individuals undergoing BRACAnalysis need BART testing? Cancer Genet 204(8):416-422
42. Shields AE, Burke W, Levy DE (2008) Differential use of available genetic tests among primary care physicians in the United States: results of a national survey. Genet Med Off J Am Coll Med Genet 10(6):404-414. doi:10.1097/GIM. 0b013e3181770184
43. Thompson HS, Sussner K, Schwartz MD, Edwards T, Forman A, Jandorf L, Brown K, Bovbjerg DH, Valdimarsdottir HB (2012) Receipt of genetic counseling recommendations among Black women at high risk for BRCA mutations. Genet Test Mol Biomark 16(11):1257-1262. doi:10.1089/gtmb.2012.0114
44. Zhang S, Royer R, Li S, McLaughlin JR, Rosen B, Risch HA, Fan I, Bradley L, Shaw PA, Narod SA (2011) Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. Gynecol Oncol 121(2):353-357. doi:10.1016/j.ygyno.2011.01.020