Variants of unknown significance in BRCA testing impact on risk perception, worry, prevention and counseling

Annals of Oncology

Volumn 24, Issue SUPPL.B, 2013, Pages

  Richter, S ^a   Haroun, I ^b   Graham, T C ^b   Eisen, A ^b   Kiss, A ^c   Warner, E ^b  

^a ST MICHAEL'S HOSPITAL   (Canada)

^b DEPARTMENT OF RADIATION ONCOLOGY   (Canada)

^c UNIVERSITY OF TORONTO   (Canada)

Author keywords

BRCA1; BRCA2; Breast cancer; Variants; Variants of unknown significance

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

ADULT; AGED; ARTICLE; CANCER PREVENTION; CANCER RISK; CONTROLLED STUDY; DISEASE SURVEILLANCE; EDUCATIONAL STATUS; FEMALE; GENE MUTATION; GENERAL PRACTITIONER; GENETIC COUNSELING; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; PATIENT WORRY; PRIORITY JOURNAL; RISK REDUCTION; TUMOR SUPPRESSOR GENE; VARIANTS OF UNKNONW SIGNIFICANCE;

BRCA1; BRCA2; BREAST CANCER; VARIANTS; VARIANTS OF UNKNOWN SIGNIFICANCE;

BRCA1 PROTEIN; BRCA2 PROTEIN; BREAST NEOPLASMS; FEMALE; GENETIC COUNSELING; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HETEROZYGOTE; HUMANS; MUTATION; QUESTIONNAIRES; SEQUENCE ANALYSIS, DNA;

EID: 84886286114     PISSN: 09237534     EISSN: 15698041     Source Type: Journal    
DOI: 10.1093/annonc/mdt312     Document Type: Article

References (18)

1. Antoniou A, Pharoah PD, Narod S et al. 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 2003; 72: 1117-1130.
2. Plon SE, Eccles DM, Easton D et al. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat 2008; 29: 1282-1291.
3. Domchek S, Weber BL. Genetic variants of uncertain significance: flies in the ointment. J Clin Oncol 2008; 26: 16-17.
4. Domchek SM, Greenberg RA. Breast cancer gene variants: separating the harmful from the harmless. J Clin Invest 2009; 119: 2895-2897.
5. Radice P, De Summa S, Caleca L et al. Unclassified variants in BRCA genes: guidelines for interpretation. Ann Oncol 2011; 22(Suppl 1): i18-i23.
6. Akbari MR, Zhang S, Fan I et al. Clinical impact of unclassified variants of the BRCA1 and BRCA2 genes. J Med Genet 2011; 48: 783-786.
7. 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.
8. Vallee MP, Francy TC, Judkins MK et al. Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs 2012. Hum Mutat 2012; 33: 22-28.
9. Szabo C, Masiello A, Ryan JF et al. The Breast Cancer Information Core: database design, structure, and scope. Hum Mutat 2000; 16: 123-131.
10. Spurdle AB, Healey S, Devereau A et al. ENIGMA-evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes. Hum Mutat 2012; 33: 2-7.
11. Vos J, Otten W, van Asperen C et al. The counselees' view of an unclassified variant in BRCA1/2: recall, interpretation, and impact on life. Psychooncology 2007; 17: 822-830.
12. Vos J, Oosterwijk JC, Gomez-Garcia E et al. Perceiving cancer-risks and hereditylikelihood in genetic-counseling: counselees recall and interpret BRCA1/2-test results. Clin Genet 2011; 79: 207-218.
13. Vos J, Gomez-Garcia E, Oosterwijk JC et al. Opening the psychological black box in genetic counseling. The psychological impact of DNA testing is predicted by the counselees' perception, the medical impact by the pathogenic or uninformative BRCA1/2-result. Psychooncology 2012; 21: 29-42.
14. Van Dijk S, van Asperen CJ, Jacobi CE et al. Variants of uncertain clinical significance as a result of BRCA1/2 testing: impact of an ambiguous breast cancer risk message. Genet Test 2004; 8: 235-239.
15. Petrucelli N, Lazebnik N, Huelsman KM et al. Clinical interpretation and recommendations for patients with a variant of uncertain significance in BRCA1 or BRCA2: a survey of genetic counseling practice. Genet Test 2002; 6: 107-113.
16. Murray ML, Cerrato F, Bennett RL et al. Follow-up of carriers of BRCA1 and BRCA2 variants of unknown significance: variant reclassification and surgical decisions. Genet Med 2011; 13: 998-1005.
17. Trask PC, Paterson AG, Wang C et al. Cancer-specific worry interference in women attending a breast and ovarian cancer risk evaluation program: impact on emotional distress and health functioning. Psychooncology 2001; 10: 349-360.
18. Ropka ME, Keim J, Philbrick JT. Patient decisions about breast cancer chemoprevention: a systematic review and meta-analysis. J Clin Oncol 2010; 28: 3090-3095.