Cancer genomics and inherited risk

Journal of Clinical Oncology

Volumn 32, Issue 7, 2014, Pages 687-698

  Stadler, Zsofia K ^a,b   Schrader, Kasmintan A ^a   Vijai, Joseph ^a   Robson, Mark E ^a,b   Offit, Kenneth ^a,b  

^a MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^b WEILL CORNELL MEDICAL COLLEGE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CANCER GENETICS; CANCER PREVENTION; CANCER RISK; CANCER SUSCEPTIBILITY; CLINICAL EVALUATION; CLINICAL TRIAL (TOPIC); GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOMICS; HUMAN; NEOPLASM; ONCOLOGIST; OUTCOME ASSESSMENT; PERSONALIZED MEDICINE; PREVENTIVE MEDICINE; PRIORITY JOURNAL; RISK ASSESSMENT; RNA TRANSLATION; WHOLE EXOME SEQUENCING; WHOLE GENOME SEQUENCING; ADULT; CASE REPORT; FEMALE; GENETIC PREDISPOSITION; GENETIC PRIVACY; GENETIC SCREENING; GENETICS; HIGH THROUGHPUT SEQUENCING; HUMAN GENOME; MALE; METHODOLOGY; MIDDLE AGED; MUTATION; ONCOGENE; POLYMERASE CHAIN REACTION;

ADULT; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC PRIVACY; GENETIC TESTING; GENOME, HUMAN; GENOMICS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INDIVIDUALIZED MEDICINE; MALE; MIDDLE AGED; MUTATION; NEOPLASMS; ONCOGENES; POLYMERASE CHAIN REACTION;

EID: 84896959827     PISSN: 0732183X     EISSN: 15277755     Source Type: Journal    
DOI: 10.1200/JCO.2013.49.7271     Document Type: Article

References (144)

1. Garber JE, Offit K: Hereditary cancer predisposition syndromes. J Clin Oncol 23:276-292, 2005 (Pubitemid 46206879)
2. Robson M, Offit K: Clinical practice: Management of an inherited predisposition to breast cancer. N Engl J Med 357:154-162, 2007 (Pubitemid 47057733)
3. Lindor NM, Petersen GM, Hadley DW, et al: Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: A systematic review. JAMA 296:1507-1517, 2006 (Pubitemid 44465515)
4. Galiatsatos P, Foulkes WD: Familial adenomatous polyposis. Am J Gastroenterol 101:385-398, 2006 (Pubitemid 43381685)
5. 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
6. Macconaill LE, Garraway LA: Clinical implications of the cancer genome. J Clin Oncol 28:5219-5228, 2010
7. Garraway LA: Genomics-driven oncology: Framework for an emerging paradigm. J Clin Oncol 31:1806-1814, 2013
8. Lichtenstein P, Holm NV, Verkasalo PK, et al: Environmental and heritable factors in the causation of cancer: Analyses of cohorts of twins from Sweden, Denmark, and Finland. N Engl J Med 343:78-85, 2000 (Pubitemid 30451850)
9. Athma P, Rappaport R, Swift M: Molecular genotyping shows that ataxia-telangiectasia heterozygotes are predisposed to breast cancer. Cancer Genet Cytogenet 92:130-134, 1996 (Pubitemid 26427675)
10. CHEK2 Breast Cancer Case-Control Consortium: CHEK2*1100delC and susceptibility to breast cancer: A collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am J Hum Genet 74:1175-1182, 2004
11. Meijers-Heijboer H, van den Ouweland A, Klijn J, et al: Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 31:55-59, 2002
12. Seal S, Thompson D, Renwick A, et al: Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet 38:1239-1241, 2006 (Pubitemid 44646283)
13. Rahman N, Seal S, Thompson D, et al: PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet 39:165-167, 2007 (Pubitemid 46184346)
14. Stadler ZK, Thom P, Robson ME, et al: Genome-wide association studies of cancer. J Clin Oncol 28:4255-4267, 2010
15. Stadler ZK, Vijai J, Thom P, et al: Genome-wide association studies of cancer predisposition. Hematol Oncol Clin North Am 24:973-996, 2010
16. Bernstein BE, Birney E, Dunham I, et al: An integrated encyclopedia of DNA elements in the human genome. Nature 489:57-74, 2012
17. Wacholder S, Hartge P, Prentice R, et al: Performance of common genetic variants in breast-cancer risk models. N Engl J Med 362:986-993, 2010
18. Gail MH: Value of adding single-nucleotide polymorphism genotypes to a breast cancer risk model. J Natl Cancer Inst 101:959-963, 2009
19. Comen E, Balistreri L, Gönen M, et al: Discriminatory accuracy and potential clinical utility of genomic profiling for breast cancer risk in BRCA-negative women. Breast Cancer Res Treat 127:479-487, 2011
20. Antoniou AC, Beesley J, McGuffog L, et al: Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: Implications for risk prediction. Cancer Res 70:9742-9754, 2010
21. Zheng SL, Sun J, Wiklund F, et al: Cumulative association of five genetic variants with prostate cancer. N Engl J Med 358:910-919, 2008 (Pubitemid 351397090)
22. Salinas CA, Koopmeiners JS, Kwon EM, et al: Clinical utility of five genetic variants for predicting prostate cancer risk and mortality. Prostate 69:363-372, 2009
23. Johansson M, Holmström B, Hinchliffe SR, et al: Combining 33 genetic variants with prostate-specific antigen for prediction of prostate cancer: Longitudinal study. Int J Cancer 130:129-137, 2012
24. Dunlop MG, Tenesa A, Farrington SM, et al: Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42 103 individuals. Gut 62:871-881, 2013
25. 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]
26. Michailidou K, Hall P, Gonzalez-Neira A, et al: Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet 45:353-361, 2013
27. Garcia-Closas M, Couch FJ, Lindstrom S, et al: Genome-wide association studies identify four ER negative-specific breast cancer risk loci. Nat Genet 45:392-398, 2013
28. Bojesen SE, Pooley KA, Johnatty SE, et al: Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet 45:371-384, 2013
29. Pharoah PD, Tsai YY, Ramus SJ, et al: GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. Nat Genet 45:362-370, 2013
30. Shen H, Fridley BL, Song H, et al: Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer. Nat Commun 4:1628, 2013
31. Permuth-Wey J, Lawrenson K, Shen HC, et al: Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31. Nat Commun 4:1627, 2013
32. Eeles RA, Olama AA, Benlloch S, et al: Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. Nat Genet 45:385-391, 2013
33. Kote-Jarai Z, Saunders EJ, Leongamornlert DA, et al: Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression. Hum Mol Genet 22:2520-2528, 2013
34. Burton H, Chowdhury S, Dent T, et al: Public health implications from COGS and potential for risk stratification and screening. Nat Genet 45:349-351, 2013
35. Liu L, Li Y, Li S, et al: Comparison of nextgeneration sequencing systems. J Biomed Biotechnol 2012:251364, 2012
36. Quail MA, Smith M, Coupland P, et al: A tale of three next generation sequencing platforms: Comparison of Ion Torrent, Pacific Biosciences and Illumina MiSeq sequencers. BMC Genomics 13:341, 2012
37. Dressman D, Yan H, Traverso G, et al: Transforming single DNA molecules into fluorescent magnetic particles for detection and enumeration of genetic variations. Proc Natl Acad Sci U S A 100:8817-8822, 2003 (Pubitemid 36899181)
38. Fedurco M, Romieu A, Williams S, et al: BTA, a novel reagent for DNA attachment on glass and efficient generation of solid-phase amplified DNA colonies. Nucleic Acids Res 34:e22, 2006
39. Valouev A, Ichikawa J, Tonthat T, et al: A high-resolution, nucleosome position map of C. elegans reveals a lack of universal sequence-dictated positioning. Genome Res 18:1051-1063, 2008 (Pubitemid 351931156)
40. Sanger F, Air GM, Barrell BG, et al: Nucleotide sequence of bacteriophage phi X174 DNA. Nature 265:687-695, 1977 (Pubitemid 8039446)
41. Mardis ER: New strategies and emerging technologies for massively parallel sequencing: Applications in medical research. Genome Med 1:40, 2009
42. Metzker ML: Sequencing technologies: The next generation. Nat Rev Genet 11:31-46, 2010
43. Koboldt DC, Ding L, Mardis ER, et al: Challenges of sequencing human genomes. Brief Bioinform 11:484-498, 2010
44. Shendure J, Ji H: Next-generation DNA sequencing. Nat Biotechnol 26:1135-1145, 2008
45. Lam HY, Clark MJ, Chen R, et al: Performance comparison of whole-genome sequencing platforms. Nat Biotechnol 30:78-82, 2012
46. Ng SB, Turner EH, Robertson PD, et al: Targeted capture and massively parallel sequencing of 12 human exomes. Nature 461:272-276, 2009
47. Ng SB, Bigham AW, Buckingham KJ, et al: Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 42:790-793, 2010
48. Hoischen A, van Bon BW, Gilissen C, et al: De novo mutations of SETBP1 cause Schinzel- Giedion syndrome. Nat Genet 42:483-485, 2010
49. Ng SB, Buckingham KJ, Lee C, et al: Exome sequencing identifies the cause of a Mendelian disorder. Nat Genet 42:30-35, 2010
50. Wang JL, Yang X, Xia K, et al: TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing. Brain 133:3510-3518, 2010
51. Ku CS, Naidoo N, Pawitan Y: Revisiting Mendelian disorders through exome sequencing. Hum Genet 129:351-370, 2011
52. Lupski JR, Reid JG, Gonzaga-Jauregui C, et al: Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med 362:1181-1191, 2010
53. Sobreira NL, Cirulli ET, Avramopoulos D, et al: Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene. PLoS Genet 6:e1000991, 2010
54. Rios J, Stein E, Shendure J, et al: Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia. Hum Mol Genet 19:4313-4318, 2010
55. Vanderbilt University: Bioinformatics and Systems Medicine Laboratory: NGS catalog. http://bioinfo.mc.vanderbilt.edu/NGS/index.html
56. Xia J, Wang Q, Jia P, et al: NGS catalog: A database of next generation sequencing studies in humans. Hum Mutat 33:E2341-E2355, 2012
57. Jones S, Hruban RH, Kamiyama M, et al: Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. Science 324:217, 2009
58. Tischkowitz M, Xia B: PALB2/FANCN: Recombining cancer and Fanconi anemia. Cancer Res 70:7353-7359, 2010
59. Roberts NJ, Jiao Y, Yu J, et al: ATM mutations in patients with hereditary pancreatic cancer. Cancer Discov 2:41-46, 2012
60. Gatti RA, Berkel I, Boder E, et al: Localization of an ataxia-telangiectasia gene to chromosome 11q22-23. Nature 336:577-580, 1988 (Pubitemid 19007315)
61. Li A, Swift M: Mutations at the ataxiatelangiectasia locus and clinical phenotypes of A-T patients. Am J Med Genet 92:170-177, 2000 (Pubitemid 30228487)
62. Ahmed M, Rahman N: ATM and breast cancer susceptibility. Oncogene 25:5906-5911, 2006 (Pubitemid 44453446)
63. Comino-Méndez I, Gracia-Aznárez FJ, Schiavi F, et al: Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. Nat Genet 43:663-667, 2011
64. Neumann HP, Bausch B, McWhinney SR, et al: Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med 346:1459-1466, 2002 (Pubitemid 34755714)
65. Hao HX, Khalimonchuk O, Schraders M, et al: SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma. Science 325:1139-1142, 2009
66. Yao L, Schiavi F, Cascon A, et al: Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas. JAMA 304:2611-2619, 2010
67. Burnichon N, Brière JJ, Libé R, et al: SDHA is a tumor suppressor gene causing paraganglioma. Hum Mol Genet 19:3011-3020, 2010
68. Mannelli M, Castellano M, Schiavi F, et al: Clinically guided genetic screening in a large cohort of Italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas. J Clin Endocrinol Metab 94:1541-1547, 2009
69. Cascón A, Pita G, Burnichon N, et al: Genetics of pheochromocytoma and paraganglioma in Spanish patients. J Clin Endocrinol Metab 94:1701-1705, 2009
70. Atchley WR, Fitch WM: Myc and Max: Molecular evolution of a family of proto-oncogene products and their dimerization partner. Proc Natl Acad Sci U S A 92:10217-10221, 1995
71. Smith ML, Cavenagh JD, Lister TA, et al: Mutation of CEBPA in familial acute myeloid leukemia. N Engl J Med 351:2403-2407, 2004
72. Song WJ, Sullivan MG, Legare RD, et al: Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet 23:166-175, 1999 (Pubitemid 29455388)
73. Ostergaard P, Simpson MA, Connell FC, et al: Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). Nat Genet 43:929-931, 2011
74. Mansour S, Connell F, Steward C, et al: Emberger syndrome-primary lymphedema with myelodysplasia: Report of seven new cases. Am J Med Genet A 152A:2287-2296, 2010
75. Hahn CN, Chong CE, Carmichael CL, et al: Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. Nat Genet 43:1012-1017, 2011
76. Shah S, Schrader KA, Waanders E, et al: A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia. Nat Genet 45:1226-1231, 2013
77. Enciso-Mora V, Broderick P, Ma Y, et al: A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3). Nat Genet 42:1126-1130, 2010
78. Salipante SJ, Mealiffe ME, Wechsler J, et al: Mutations in a gene encoding a midbody kelch protein in familial and sporadic classical Hodgkin lymphoma lead to binucleated cells. Proc Natl Acad Sci U S A 106:14920-14925, 2009
79. Saarinen S, Aavikko M, Aittomäki K, et al: Exome sequencing reveals germline NPAT mutation as a candidate risk factor for Hodgkin lymphoma. Blood 118:493-498, 2011
80. Medina R, van der Deen M, Miele-Chamberland A, et al: The HiNF-P/p220NPAT cell cycle signaling pathway controls nonhistone target genes. Cancer Res 67:10334-10342, 2007 (Pubitemid 350070808)
81. Yokoyama S, Woods SL, Boyle GM, et al: A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma. Nature 480:99-103, 2011
82. Bertolotto C, Lesueur F, Giuliano S, et al: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. Nature 480:94-98, 2011
83. Horn S, Figl A, Rachakonda PS, et al: TERT promoter mutations in familial and sporadic melanoma. Science 339:959-961, 2013
84. Park DJ, Lesueur F, Nguyen-Dumont T, et al: Rare mutations in XRCC2 increase the risk of breast cancer. Am J Hum Genet 90:734-739, 2012
85. Park DJ, Odefrey FA, Hammet F, et al: FAN1 variants identified in multiple-case early-onset breast cancer families via exome sequencing: No evidence for association with risk for breast cancer. Breast Cancer Res Treat 130:1043-1049, 2011
86. Hilbers FS, Wijnen JT, Hoogerbrugge N, et al: Rare variants in XRCC2 as breast cancer susceptibility alleles. J Med Genet 49:618-620, 2012
87. Shah S, Kim Y, Ostrovnaya I, et al: Assessment of SLX4 mutations in hereditary breast cancers. PLoS One 8:366961, 2013
88. Ruark E, Snape K, Humburg P, et al: Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer. Nature 493:406-410, 2013
89. Rafnar T, Gudbjartsson DF, Sulem P, et al: Mutations in BRIP1 confer high risk of ovarian cancer. Nat Genet 43:1104-1107, 2011
90. Palles C, Cazier JB, Howarth KM, et al: Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet 45:136-144, 2013
91. Jaeger E, Leedham S, Lewis A, et al: Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1. Nat Genet 44:699-703, 2012
92. Ewing CM, Ray AM, Lange EM, et al: Germline mutations in HOXB13 and prostate-cancer risk. N Engl J Med 366:141-149, 2012
93. Bott M, Brevet M, Taylor BS, et al: The nuclear deubiquitinase BAP1 is commonly inactivated by somatic mutations and 3p21.1 losses in malignant pleural mesothelioma. Nat Genet 43:668-672, 2011
94. Harbour JW, Onken MD, Roberson ED, et al: Frequent mutation of BAP1 in metastasizing uveal melanomas. Science 330:1410-1413, 2010
95. Testa JR, Cheung M, Pei J, et al: Germline BAP1 mutations predispose to malignant mesothelioma. Nat Genet 43:1022-1025, 2011
96. Wiesner T, Obenauf AC, Murali R, et al: Germline mutations in BAP1 predispose to melanocytic tumors. Nat Genet 43:1018-1021, 2011
97. Popova T, Hebert L, Jacquemin V, et al: Germline BAP1 mutations predispose to renal cell carcinomas. Am J Hum Genet [epub ahead of print on May 14, 2013]
98. Farley MN, Schmidt LS, Mester JL, et al: Germline BAP1 mutation predisposes to familial clear-cell renal cell carcinoma. Mol Cancer Res [epub ahead of print on May 24, 2013]
99. 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
100. Offit K, Sagi M, Hurley K: Preimplantation genetic diagnosis for cancer syndromes: A new challenge for preventive medicine. JAMA 296:2727-2730, 2006 (Pubitemid 44917550)
101. Pritchard CC, Smith C, Salipante SJ, et al: ColoSeq provides comprehensive Lynch and polyposis syndrome mutational analysis using massively parallel sequencing. J Mol Diagn 14:357-366, 2012
102. Domchek S, Bradbury A, Garber J, et al: Multiplex genetic testing for cancer susceptibility: Out on the high wire without a net? J Clin Oncol 31:1267-1270, 2013
103. Offit K, Bradbury A, Storm C, et al: Gene patents and personalized cancer care: Impact of the myriad case on clinical oncology. J Clin Oncol 31:2743-2748, 2013
104. Mardis ER, Ding L, Dooling DJ, et al: Recurring mutations found by sequencing an acute myeloid leukemia genome. N Engl J Med 361:1058-1066, 2009
105. Ding L, Ellis MJ, Li S, et al: Genome remodelling in a basal-like breast cancer metastasis and xenograft. Nature 464:999-1005, 2010
106. Cancer Genome Atlas. http://cancergenome.nih.gov
107. International Cancer Genome Consortium.https://www.icgc.org
108. Cancer Genome Atlas Research Network: Comprehensive genomic characterization defines human glioblastoma genes and core pathways. Nature 455:1061-1068, 2008
109. Cancer Genome Atlas Research Network: Integrated genomic analyses of ovarian carcinoma. Nature 474:609-615, 2011
110. Cancer Genome Atlas Network: Comprehensive molecular characterization of human colon and rectal cancer. Nature 487:330-337, 2012
111. Cancer Genome Atlas Network: Comprehensive molecular portraits of human breast tumours. Nature 490:61-70, 2012
112. Oxnard GR, Miller VA, Robson ME, et al: Screening for germline EGFR T790M mutations through lung cancer genotyping. J Thorac Oncol 7:1049-1052, 2012
113. Lynch TJ, Bell DW, Sordella R, et al: Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib. N Engl J Med 350:2129-2139, 2004 (Pubitemid 38637993)
114. Paez JG, Jänne PA, Lee JC, et al: EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy. Science 304:1497-1500, 2004 (Pubitemid 38720929)
115. Pao W, Miller V, Zakowski M, et al: EGF receptor gene mutations are common in lung cancers from "never smokers" and are associated with sensitivity of tumors to gefitinib and erlotinib. Proc Natl Acad Sci U S A 101:13306-13311, 2004 (Pubitemid 39209661)
116. Kobayashi S, Boggon TJ, Dayaram T, et al: EGFR mutation and resistance of non-small-cell lung cancer to gefitinib. N Engl J Med 352:786-792, 2005 (Pubitemid 40271173)
117. Pao W, Miller VA, Politi KA, et al: Acquired resistance of lung adenocarcinomas to gefitinib or erlotinib is associated with a second mutation in the EGFR kinase domain. PLoS Med 2:e73, 2005
118. Bell DW, Gore I, Okimoto RA, et al: Inherited susceptibility to lung cancer may be associated with the T790M drug resistance mutation in EGFR. Nat Genet 37:1315-1316, 2005
119. Sandhu SK, Omlin A, Hylands L, et al: Poly (ADP-ribose) polymerase (PARP) inhibitors for the treatment of advanced germline BRCA2 mutant prostate cancer. Ann Oncol 24:1416-1418, 2013
120. Balmaña J, Domchek SM, Tutt A, et al: Stumbling blocks on the path to personalized medicine in breast cancer: the case of PARP inhibitors for BRCA1/2-associated cancers. Cancer Discov 1:29-34, 2011
121. Bombard Y, Robson M, Offit K: Revealing the incidentalome when targeting the tumor genome. JAMA 310:795-796, 2013
122. Homer N, Szelinger S, Redman M, et al: Resolving individuals contributing trace amounts of DNA to highly complex mixtures using highdensity SNP genotyping microarrays. PLoS Genet 4:e1000167, 2008
123. Zerhouni EA, Nabel EG: Protecting aggregate genomic data. Science 322:44, 2008
124. Gymrek M, McGuire AL, Golan D, et al: Identifying personal genomes by surname inference. Science 339:321-324, 2013
125. US Department of Health and Human Services: ANPRM for revision to Common Rule. http://www.hhs.gov/ohrp/humansubjects/anprm2011page.html
126. Kohane IS, Masys DR, Altman RB: The incidentalome: A threat to genomic medicine. JAMA 296:212-215, 2006 (Pubitemid 44050375)
127. Ashley EA, Butte AJ, Wheeler MT, et al: Clinical assessment incorporating a personal genome. Lancet 375:1525-1535, 2010
128. Damani SB, Topol EJ: Emerging genomic applications in coronary artery disease. JACC Cardiovasc Interv 4:473-482, 2011
129. Biskup S, Gasser T: Genetic testing in neurological diseases. J Neurol 259:1249-1254, 2012
130. Green RC, Berg JS, Berry GT, et al: Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet Med 14: 405-410, 2012
131. Bombard Y, Offit K, Robson ME: Risks to relatives in genomic research: A duty to warn? Am J Bioeth 12:12-14, 2012
132. ACMG Board of Directors: Points to consider in the clinical application of genomic sequencing. Genet Med 14:759-761, 2012
133. Green RC, Berg JS, Grody WW, et al: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med 15:565-574, 2013
134. Allyse M, Michie M: Not-so-incidental findings: The ACMG recommendations on the reporting of incidental findings in clinical whole genome and whole exome sequencing. Trends Biotechnol 31:439-441, 2013
135. Wolf SM, Annas GJ, Elias S: Point-counterpoint: Patient autonomy and incidental findings in clinical genomics. Science 340:1049-1050, 2013
136. McGuire AL, Joffe S, Koenig BA, et al: Point-counterpoint: Ethics and genomic incidental findings. Science 340:1047-1048, 2013
137. 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
138. Roychowdhury S, Iyer MK, Robinson DR, et al: Personalized oncology through integrative high-throughput sequencing: A pilot study. Sci Transl Med 3:111ra121, 2011
139. Berg JS, Khoury MJ, Evans JP: Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time. Genet Med 13:499-504, 2011
140. National Center for Biotechnology Information: ClinVar database. http://www.ncbi.nlm.nih.gov/clinvar/
141. McBride CM, Bowen D, Brody LC, et al: Future health applications of genomics: Priorities for communication, behavioral, and social sciences research. Am J Prev Med 38:556-565, 2010
142. Mardis ER: The $1,000 genome, the $100,000 analysis? Genome Med 2:84, 2010
143. Offit K: Genomic profiles for disease risk: Predictive or premature? JAMA 299:1353-1355, 2008
144. Offit K: Personalized medicine: New genomics, old lessons. Hum Genet 130:3-14, 2011