Multiplex genetic testing for cancer susceptibility: Out on the high wire without a net?

Journal of Clinical Oncology

Volumn 31, Issue 10, 2013, Pages 1267-1270

  Domchek, Susan M ^a   Bradbury, Angela ^a   Garber, Judy E ^b   Offit, Kenneth ^c   Robson, Mark E ^c  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b DANA FARBER CANCER INSTITUTE   (United States)

^c MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BREAST CANCER; CANCER GENETICS; CANCER SUSCEPTIBILITY; COUNSELING; GASTRECTOMY; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; NOTE; OVARY CANCER; PRIORITY JOURNAL; STOMACH CANCER; TUMOR GENE;

CADHERINS; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; MUTATION; NEOPLASMS; REPRODUCIBILITY OF RESULTS; RISK FACTORS; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS, DNA; TUMOR SUPPRESSOR PROTEIN P53;

EID: 84876071726     PISSN: 0732183X     EISSN: 15277755     Source Type: Journal    
DOI: 10.1200/JCO.2012.46.9403     Document Type: Note

References (26)

1. Robson ME, Storm CD, Weitzel J, et al: American Society of Clinical Oncology policy statement update: Genetic and genomic testing for cancer susceptibility. J Clin Oncol 28:893-901, 2010
2. American Society of Clinical Oncology: American Society of Clinical Oncology policy statement update: Genetic testing for cancer susceptibility. J Clin Oncol 21:2397-2406, 2003
3. American Society of Clinical Oncology: Statement of the American Society of Clinical Oncology: Genetic testing for cancer susceptibility, adopted onFebruary 20, 1996. J Clin Oncol 14:1730-1736, 1996
4. Daly MB, Axilbund JE, Buys S, et al: Genetic/familial high-risk assessment: Breast and ovarian. J Natl Compr Canc Netw 8:562-594, 2010
5. Domchek SM, Friebel TM, Singer CF, et al: Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA 304:967-975, 2010
6. Kauff ND, Satagopan JM, Robson ME, et al: Risk-reducing salpingooophorectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med 346:1609-1615, 2002 (Pubitemid 34755668)
7. Lindor NM, McMaster ML, Lindor CJ, et al: Concise handbook of familial cancer susceptibility syndromes: Second edition. J Natl Cancer Inst Monogr 38:1-93, 2008
8. Weitzel JN, Blazer KR, Macdonald DJ, et al: Genetics, genomics, and cancer risk assessment: State of the art and future directions in the era of personalized medicine. CA Cancer J Clin [epub ahead of print on August 19, 2011]
9. Walsh T, Casadei S, Lee MK, et al: Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci U S A 108:18032-18037, 2011
10. Walsh T, Lee MK, Casadei S, et al: Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci U S A 107:12629-12633, 2010
11. Hamilton JG, Lobel M, Moyer A: Emotional distress following genetic testing for hereditary breast and ovarian cancer: A meta-analytic review. Health Psychol 28:510-518, 2009
12. Halbert CH, Stopfer JE, McDonald J, et al: Long-term reactions to genetic testing for BRCA1 and BRCA2 mutations: Does time heal women's concerns? J Clin Oncol 29:4302-4306, 2011
13. Villani A, Tabori U, Schiffman J, et al: Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: A prospective observational study. Lancet Oncol 12:559-567, 2011
14. Lammens CR, Aaronson NK, Wagner A, et al: Genetic testing in Li-Fraumeni syndrome: Uptake and psychosocial consequences. J Clin Oncol 28:3008-3014, 2010
15. Fitzgerald RC, Hardwick R, Huntsman D, et al: Hereditary diffuse gastric cancer: Updated consensus guidelines for clinical management and directions for future research. J Med Genet 47:436-444, 2010
16. Schrader KA, Masciari S, Boyd N, et al: Germline mutations in CDH1 are infrequent in women with early-onset or familial lobular breast cancers. J Med Genet 48:64-68, 2011
17. Offit K, Garber JE: Time to check CHEK2 in families with breast cancer? J Clin Oncol 26:519-520, 2008 (Pubitemid 351264342)
18. Robson M: CHEK2, breast cancer, and the understanding of clinical utility. Clin Genet 78:8-10, 2010
19. Iversen ES Jr, Couch FJ, Goldgar DE, et al: A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1. Cancer Epidemiol Biomarkers Prev 20:1078-1088, 2011
20. Lindor NM, Guidugli L, Wang X, et al: A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). Hum Mutat 33:8-21, 2012
21. Ng PC, Henikoff S: Predicting the effects of amino acid substitutions on protein function. Annu Rev Genomics Hum Genet 7:61-80, 2006 (Pubitemid 44627922)
22. Sim NL, Kumar P, Hu J, et al: SIFT web server: Predicting effects of amino acid substitutions on proteins. Nucleic Acids Res 40:W452-W457, 2012
23. 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 33:2-7, 2012
24. Thompson BA, Goldgar DE, Paterson C, et al: A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: A report from the Colon Cancer Family Registry. Hum Mutat 34:200-209, 2013
25. Plon SE, Cooper HP, Parks B, et al: Genetic testing and cancer risk management recommendations by physicians for at-risk relatives. Genet Med 13:148-154, 2011
26. Offit K: Personalized medicine: New genomics, old lessons. Hum Genet 130:3-14, 2011