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Current Breast Cancer Reports
Erschienen in: Current Breast Cancer Reports 2/2015

01.06.2015 | Risk, Prevention, and Screening (TA Patel, Section Editor)

Multiple-Gene Panels and the Future of Genetic Testing

verfasst von: Allison W. Kurian, James M. Ford

Erschienen in: Current Breast Cancer Reports | Ausgabe 2/2015

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Abstract

Clinical cancer risk assessment is advancing from a past of single-gene testing toward a future of whole-genome sequencing. Cancer-focused panels of 6 to >100 genes have recently emerged into oncology practice, approximately doubling the number of patients for whom a genetic diagnosis can be made. Areas of uncertainty include the degree of cancer risk associated with mutations in specific genes on multiple-gene panels, and the optimal use of cancer risk-reducing interventions based on panel testing results. Clinician expertise is required for appropriate selection and interpretation of multiple-gene panels, and well-designed clinical trials will be essential to realize the full potential of new sequencing technologies.
Literatur
1.
Amir E, Freedman OC, Seruga B, Evans DG. Assessing women at high risk of breast cancer: a review of risk assessment models. J Natl Cancer Inst. 2010;102(10):680–91.CrossRefPubMed
2.
Claus EB, Risch N, Thompson WD. The calculation of breast cancer risk for women with a first degree family history of ovarian cancer. Breast Cancer Res Treat. 1993;28(2):115.CrossRefPubMed
3.
Gail MH, Brinton LA, Byar DP, et al. Projecting individualized probabilities of developing breast cancer for white females who are being examined annually. J Natl Cancer Inst. 1989;81(24):1879–86.CrossRefPubMed
4.
Tyrer J, Duffy SW, Cuzick J. A breast cancer prediction model incorporating familial and personal risk factors. Stat Med. 2004;23(7):1111–30.CrossRefPubMed
5.
Miki Y, Swensen J, Shattuck-Eidens D, et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science. 1994;266(5182):66–71.CrossRefPubMed
6.
Wooster R, Neuhausen SL, Mangion J, et al. Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science. 1994;265(5181):2088–90.CrossRefPubMed
7.
8.••
Daly MB, Pilarski R, Axilbund JE, et al. Genetic/Familial high-risk assessment: breast and ovarian, version 1.2014. J Natl Compr Canc Netw. 2014;12(9):1326–38. Evidence-based clinical practice guidelines for breast and ovarian cancer risk assessment.PubMed
9.
Mavaddat N, Peock S, Frost D, et al. Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of embrace. J Natl Cancer Inst. 2013;105(11):812–22.CrossRefPubMed
10.
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(5):1117–30.CrossRefPubMedCentralPubMed
11.
Chen S, Iversen ES, Friebel T, et al. Characterization of BRCA1 and BRCA2 mutations in a large United States sample. J Clin Oncol. 2006;24(6):863. Feb 20.CrossRefPubMedCentralPubMed
12.
John EM, Miron A, Gong G, et al. Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups. JAMA. 2007;298(24):2869–76.CrossRefPubMed
13.
Whittemore AS, Gong G, John EM, et al. Prevalence of BRCA1 mutation carriers among U.S. non-Hispanic Whites. Cancer Epidemiol Biomarkers Prev. 2004;13(12):2078.PubMed
14.
Kurian AW, Gong GD, John EM, et al. Breast cancer risk for noncarriers of family-specific BRCA1 and BRCA2 mutations: findings from the breast cancer family registry. J Clin Oncol. 2011;29(34):4505–9.CrossRefPubMedCentralPubMed
15.
Couch FJ, Hart SN, Sharma P, et al. Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. J Clin Oncol. 2014; Electronic publication ahead of print, Dec 1.
16.••
Kurian AW, Hare EE, Mills MA, et al. Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. J Clin Oncol. 2014;32(19):2001–9. First study of the clinical impact of multiple-gene sequencing panels for breast cancer risk assessment.CrossRefPubMed
17.
Hall MJ, Reid JE, Burbidge LA, et al. BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer. Cancer. 2009;115(10):2222–33.CrossRefPubMedCentralPubMed
18.
King MC, Levy-Lahad E, Lahad A. Population-based screening for BRCA1 and BRCA2: 2014 lasker award. JAMA. 2014;312(11):1091–2.CrossRefPubMed
19.
Levy-Lahad E, Lahad A, King MC. Precision medicine meets public health: population screening for BRCA1 and BRCA2. J Natl Cancer Inst. 2015; Jan: 107(1).
20.
Risch HA, McLaughlin JR, Cole DE, et al. Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario. Canada J Natl Cancer Inst. 2006;98(23):1694–706.CrossRef
21.••
Hall MJ, Forman AD, Pilarski R, Wiesner G, Giri VN. Gene panel testing for inherited cancer risk. J J Natl Compr Canc Netw. 2014;12(9):1339–46. Practice guidelines statement on multiple-gene panel testing.
22.
Kurian AW, Kingham KE, Ford JM. Next-generation sequencing for hereditary breast and gynecologic cancer risk assessment. Curr Opin Obstet Gynecol. 2015;27(1):23–33.CrossRefPubMed
23.•
Stadler ZK, Schrader KA, Vijai J, Robson ME, Offit K. Cancer genomics and inherited risk. J Clin Oncol. 2014;32(7):687–98. Summary of emerging genomic technologies and their application in the clinic.CrossRefPubMed
24.
Lee H, Deignan JL, Dorrani N, et al. Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA. 2014;312(18):1880–7.CrossRefPubMedCentralPubMed
25.
26.••
Dewey FE, Grove ME, Pan C, et al. Clinical interpretation and implications of whole-genome sequencing. JAMA. 2014;311(10):1035–45. Study demonstrating the clinical application and challenges of whole-genome sequencing.CrossRefPubMedCentralPubMed
27.•
Green RC, Berg JS, Grody WW, et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 2013;15(7):565–74. Guidelines for reporting unexpected findings of comprehensive genome sequencing approaches to patients.CrossRefPubMedCentralPubMed
28.
Green RC, Lupski JR, Biesecker LG. Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional. JAMA. 2013;310(4):365–6.CrossRefPubMedCentralPubMed
29.
Deverka PA, Kaufman D, McGuire AL. Overcoming the reimbursement barriers for clinical sequencing. JAMA. 2014;312(18):1857–8.CrossRefPubMed
30.•
Laduca H, Stuenkel AJ, Dolinsky JS, et al. Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. Genet Med. 2014;16(11):830–7. Experience of multiple-gene panel testing reported by a large commercial laboratory.CrossRefPubMedCentralPubMed
31.•
Tung N, Battelli C, Allen B, et al. Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. Cancer. 2015;121(1):25–33. Experience of multiple-gene panel testing reported by a large commercial laboratory.CrossRefPubMed
32.
Maxwell KN, Wubbenhorst B, D’Andrea K, et al. Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer. Genet Med. 2014. Electronic publication ahead of print, Dec 11
33.
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. 2011;108(44):18032–7.CrossRefPubMedCentralPubMed
34.
Mainiero MB, Lourenco A, Mahoney MC, et al. ACR appropriateness criteria breast cancer screening. J Am Coll Radiol. 2013;10(1):11–4.CrossRefPubMed
35.
Saslow D, Boetes C, Burke W, et al. American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. CA Cancer J Clin. 2007;57(2):75–89.CrossRefPubMed
36.
Castera L, Krieger S, Rousselin A, et al. Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes. Eur J Hum Genet. Feb 19 X.
37.
Harrell M, Norquist B, Walsh T, et al. Germline loss-of-function mutations in 15 different DNA repair genes are present in 22 % of 1412 patients with ovarian, peritoneal or fallopian tube cancers not selected for age at diagnosis or family history; abstract presented at the American Society of Human Genetics Annual Meeting. October 2013: Boston, MA.
38.
Langer L, McCoy H, Moyes K, et al. A study of ovarian cancer patients tested with a 25-gene panel of hereditary cancer genes; abstract presented at the American Society of Clinical Oncology Annual Meeting. June 2014: Chicago, IL.
39.
Olopade O, Walsh T, Zheng Y, et al. Nine genes for inherited predisposition to breast cancer among African-American women; abstract presented at the American Society of Human Genetics Annual Meeting. 2013; October:Boston, MA.
40.
Selkirk CG, Vogel KJ, Newlin AC, et al. Cancer genetic testing panels for inherited cancer susceptibility: the clinical experience of a large adult genetics practice. Fam Cancer. 2014;13(4):527–36.CrossRefPubMed
41.
Walsh T, Casadei S, Lee MK, et al. More than 25 % of breast cancer families with wild-type results from commercial genetic testing of BRCA1 and BRCA2 are resolved by BROCA sequencing of all known breast cancer genes; abstract presented at the American Society of Human Genetics Annual Meeting. 2013; October:Boston, MA.
42.
Yurgelun MB, Allen B, Kaldate RR, et al. Multigene panel testing in patients suspected to have Lynch Syndrome; abstract presented at the American Society of Clinical Oncology Annual Meeting. 2014; June: Chicago, IL.
43.
Gonzalez KD, Noltner KA, Buzin CH, et al. Beyond Li fraumeni syndrome: clinical characteristics of families with p53 germline mutations. J Clin Oncol. 2009;27(8):1250–6.CrossRefPubMed
44.
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. 2011;12(6):559–67.CrossRefPubMed
45.
Brownstein MH, Wolf M, Bikowski JB. Cowden’s disease: a cutaneous marker of breast cancer. Cancer. 1978;41(6):2393–8.CrossRefPubMed
46.
Pilarski R, Eng C. Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome. J Med Genet. 2004;41(5):323–6.CrossRefPubMedCentralPubMed
47.
Bradbury AR, Patrick-Miller L, Domchek S. Multiplex genetic testing: reconsidering utility and informed consent in the era of next-generation sequencing. Genet Med. 2014; Electronic publication ahead of print, Jul 17.
48.••
Bradbury AR, Patrick-Miller L, Long J, et al. Development of a tiered and binned genetic counseling model for informed consent in the era of multiplex testing for cancer susceptibility. Genet Med. 2014;Electronic publication ahead of print, Oct 9. Summary of major ethical and communication challenges related to multiple-gene panel testing, and a review of available clinical trials
49.
Rainville IR, Rana HQ. Next-generation sequencing for inherited breast cancer risk: counseling through the complexity. Curr Oncol Rep. 2014;16(3):371.CrossRefPubMed
50.•
Kurian AW, Ford JM. Multigene testing in oncology practice: how should we respond? JAMA Oncology. 2015; online publication ahead of print, March 5. Commentary and proposed research agenda for multigene panel testing.
51.
Tuckson RV, Newcomer L, Sa JMD. Accessing genomic medicine: affordability, diffusion, and disparities. JAMA. 2013;309(14):1469–70.CrossRefPubMed
52.•
Gray SW, Hicks-Courant K, Cronin A, Rollins BJ, Weeks JC. Physicians’ attitudes about multiplex tumor genomic testing. J Clin Oncol. 2014;32(13):1317–23. Study of oncologists’ confidence in using genomic results to guide patient care.CrossRefPubMedCentralPubMed
53.
Metadaten
Titel
Multiple-Gene Panels and the Future of Genetic Testing
verfasst von
Allison W. Kurian
James M. Ford
Publikationsdatum
01.06.2015
Verlag
Springer US
Erschienen in
Current Breast Cancer Reports / Ausgabe 2/2015
Print ISSN: 1943-4588
Elektronische ISSN: 1943-4596
DOI
https://doi.org/10.1007/s12609-015-0181-4

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