Which individuals undergoing BRACAnalysis need BART testing?

Cancer Genetics

Volumn 204, Issue 8, 2011, Pages 416-422

  Shannon, Kristen M ^a   Rodgers, Linda H ^a   Chan Smutko, Gayun ^a   Patel, Devanshi ^a   Gabree, Michele ^a   Ryan, Paula D ^b  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b FOX CHASE CANCER CENTER   (United States)

Author keywords

BRCA1; BRCA2; Gene; Genetic testing

Indexed keywords

ACCURACY; ADULT; ARTICLE; CONTROLLED STUDY; FAMILY HISTORY; FEMALE; GENE MUTATION; GENE REARRANGEMENT; GENETIC COUNSELING; GENETIC RISK; GENETIC SCREENING; HETEROZYGOTE DETECTION; HUMAN; MAJOR CLINICAL STUDY; MALE; MEDICAL INSTRUMENTATION; MEDICAL RECORD REVIEW; MUTATIONAL ANALYSIS; PEDIGREE ANALYSIS; PREDICTION; PRIORITY JOURNAL; RELATIVE; RELIABILITY; RISK ASSESSMENT; SENSITIVITY AND SPECIFICITY; TUMOR SUPPRESSOR GENE; BREAST TUMOR; COMPARATIVE STUDY; DECISION SUPPORT SYSTEM; GENETIC PREDISPOSITION; GENETICS; METHODOLOGY; MUTATION; PROGNOSIS; RETROSPECTIVE STUDY; UNITED STATES;

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

BRCA1 PROTEIN; BRCA2 PROTEIN; BREAST NEOPLASMS; DECISION MAKING, COMPUTER-ASSISTED; FEMALE; GENE REARRANGEMENT; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; MUTATION; PROGNOSIS; RETROSPECTIVE STUDIES; UNITED STATES;

EID: 84856392848     PISSN: 22107762     EISSN: 22107770     Source Type: Journal    
DOI: 10.1016/j.cancergen.2011.07.005     Document Type: Article

References (36)

1. Nusbaum R., Isaacs C. Management updates for women with a BRCA1 or BRCA2 mutation. Mol Diagn Ther 2007, 11:133-144.
2. Schrag D., Kuntz K.M., Garber J.E., et al. Life expectancy gains from cancer prevention strategies for women with breast cancer and BRCA1 or BRCA2 mutations. JAMA 2000, 283:617-624.
3. Grann V.R., Jacobson J.S., Whang W., et al. Prevention with tamoxifen or other hormones versus prophylactic surgery in BRCA1/2-positive women: a decision analysis. Cancer J Sci Am 2000, 6:13-20.
4. Kwon J.S., Gutierrez-Barrera A.M., Young D., et al. Expanding the criteria for BRCA mutation testing in breast cancer survivors. J Clin Oncol 2010, 28:4214-4220.
5. Kwon J.S., Daniels M.S., Sun C.C., et al. Preventing future cancers by testing women with ovarian cancer for BRCA mutations. J Clin Oncol 2010, 28:675-682.
6. Plevritis S.K., Kurian A.W., Sigal B.M., et al. Cost-effectiveness of screening BRCA1/2 mutation carriers with breast magnetic resonance imaging. JAMA 2006, 295:2374-2384.
7. Claes E., Evers-Kiebooms G., Denayer L., et al. Predictive genetic testing for hereditary breast and ovarian cancer: psychological distress and illness representations 1 year following disclosure. J Genet Couns 2005, 14:349-363.
8. Claes E., Denayer L., Evers-Kiebooms G., et al. Predictive testing for hereditary non-polyposis colorectal cancer: motivation, illness representations and short-term psychological impact. Patient Educ Couns 2004, 55:265-274.
9. Stanley A.J., Gaff C.L., Aittomaki A.K., et al. Value of predictive genetic testing in management of hereditary non-polyposis colorectal cancer (HNPCC). Med J Aust 2000, 172:313-316.
10. Vasen H.F., van Ballegooijen M., Buskens E., et al. A cost-effectiveness analysis of colorectal screening of hereditary nonpolyposis colorectal carcinoma gene carriers. Cancer 1998, 82:1632-1637.
11. Kesselheim A.S., Mello M.M. Gene patenting-is the pendulum swinging back?. N Engl J Med 2010, 362:1855-1858.
12. MyriadGeneticsLaboratories. http://www.myriad.com/lib/technical-specifications/BRACAnalysis-Technical-Specifications.pdf.
13. Matloff E.T., Brierley K.L. The double-helix derailed: the story of the BRCA patent. Lancet 2010, 376:314-315.
14. Shannon K.M., Yamamoto K., Muzikansky A., et al. BRCA1/2 rearrangement test (BART): barriers to utilization. J Genet Couns 2008, 17:573-651.
15. Bennett R.L., French K.S., Resta R.G., et al. Standardized human pedigree nomenclature: update and assessment of the recommendations of the National Society of Genetic Counselors. J Genet Couns 2008, 17:424-433.
16. Hansen T.O., Jonson L., Albrechtsen A., et al. Large BRCA1 and BRCA2 genomic rearrangements in Danish high risk breast-ovarian cancer families. Breast Cancer Res Treat 2009, 115:315-323.
17. Armaou S., Pertesi M., Fostira F., et al. Contribution of BRCA1 germ-line mutations to breast cancer in Greece: a hospital-based study of 987 unselected breast cancer cases. Br J Cancer 2009, 101:32-37.
18. Walsh T., Casadei S., Coats K.H., et al. Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA 2006, 295:1379-1388.
19. Machado P.M., Brandao R.D., Cavaco B.M., et al. Screening for a BRCA2 rearrangement in high-risk breast/ovarian cancer families: evidence for a founder effect and analysis of the associated phenotypes. J Clin Oncol 2007, 25:2027-2034.
20. Pylkas K., Erkko H., Nikkila J., et al. Analysis of large deletions in BRCA1, BRCA2 and PALB2 genes in Finnish breast and ovarian cancer families. BMC Cancer 2008, 8:146.
21. Palma M.D., Domchek S.M., Stopfer J., et al. The relative contribution of point mutations and genomic rearrangements in BRCA1 and BRCA2 in high-risk breast cancer families. Cancer Res 2008, 68:7006-7014.
22. Gayther S.A., Warren W., Mazoyer S., et al. Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation. Nat Genet 1995, 11:428-433.
23. Couch F.J., DeShano M.L., Blackwood M.A., et al. BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer. N Engl J Med 1997, 336:1409-1415.
24. Frank T.S., Manley S.A., Olopade O.I., et al. Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk. J Clin Oncol 1998, 16:2417-2425.
25. Serova O., Montagna M., Torchard D., et al. A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families. Am J Hum Genet 1996, 58:42-51.
26. Gayther S.A., Mangion J., Russell P., et al. Variation of risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 gene. Nat Genet 1997, 15:103-105.
27. Thompson D., Easton D. Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. Am J Hum Genet 2001, 68:410-419.
28. Al-Mulla F., Bland J.M., Serratt D., et al. Age-dependent penetrance of different germline mutations in the BRCA1 gene. J Clin Pathol 2009, 62:350-356.
29. Ramus S.J., Kartsonaki C., Gayther S.A., et al. Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 2011, 103:105-116.
30. Bancroft E., Ardern-Jones A., Lynch E. Cancer genetics: the importance of obtaining a family history. Nurs Times 2006, 102:28-29.
31. Wood M.E., Stockdale A., Flynn B.S. Interviews with primary care physicians regarding taking and interpreting the cancer family history. Fam Pract 2008, 25:334-340.
32. Trepanier A., Ahrens M., McKinnon W., et al. Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. J Genet Couns 2004, 13:83-114.
33. Wilson B.J., Qureshi N., Santaguida P., et al. Systematic review: family history in risk assessment for common diseases. Ann Intern Med 2009, 151:878-885.
34. Qureshi N., Carroll J.C., Wilson B., et al. The current state of cancer family history collection tools in primary care: a systematic review. Genet Med 2009, 11:495-506.
35. Qureshi N., Wilson B., Santaguida P., et al. Family history and improving health. Evid Rep Technol Assess (Full Rep) 2009, 1-135.
36. Flynn B.S., Wood M.E., Ashikaga T., et al. Primary care physicians' use of family history for cancer risk assessment. BMC Fam Pract 2010, 11:45.