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A 14\u2010year\u2010old male patient presented with metastatic gastric adenocarcinoma, and a strong family history of colon cancer. Clinical sequencing of <jats:italic>CDH1<\/jats:italic> and <jats:italic>APC<\/jats:italic> were negative. Whole exome sequencing was therefore applied to capture the majority of protein\u2010coding regions for the identification of single\u2010nucleotide variants, small insertion\/deletions, and copy number abnormalities in the patient's germline as well as primary tumor.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and Methods<\/jats:title><jats:p>DNA was extracted from the patient's blood, primary tumor, and the unaffected mother's blood. DNA libraries were constructed and sequenced on Illumina HiSeq2000. Data were post\u2010processed using Picard and Samtools, then analyzed with the Genome Analysis Toolkit. Variants were annotated using an in\u2010house Ensembl\u2010based program. Copy number was assessed using ExomeCNV.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Each sample was sequenced to a mean depth of coverage of greater than 120\u00d7. A rare non\u2010synonymous coding single\u2010nucleotide variant (SNV) in <jats:italic>TP53<\/jats:italic> was identified in the germline. There were 10 somatic cancer protein\u2010damaging variants that were not observed in the unaffected mother genome. ExomeCNV comparing tumor to the patient's germline, identified abnormal copy number, spanning 6,946 genes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We present an unusual case of Li\u2010Fraumeni detected by whole exome sequencing. There were also likely driver somatic mutations in the gastric adenocarcinoma. These results highlight the need for more thorough and broad scale germline and cancer analyses to accurately inform patients of inherited risk to cancer and to identify somatic mutations. Pediatr Blood Cancer 2013; 60: 570\u2013574. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pbc.24316","type":"journal-article","created":{"date-parts":[[2012,9,27]],"date-time":"2012-09-27T06:27:26Z","timestamp":1348727246000},"page":"570-574","source":"Crossref","is-referenced-by-count":25,"title":["Whole exome sequencing of pediatric gastric adenocarcinoma reveals an atypical presentation of Li\u2010Fraumeni syndrome"],"prefix":"10.1002","volume":"60","author":[{"given":"Vivian Y.","family":"Chang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noah","family":"Federman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julian","family":"Martinez\u2010Agosto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sergei F.","family":"Tatishchev","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stanley F.","family":"Nelson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,9,26]]},"reference":[{"doi-asserted-by":"publisher","key":"e_1_2_6_2_2","DOI":"10.1016\/S0031-3955(16)31952-6"},{"doi-asserted-by":"publisher","key":"e_1_2_6_3_2","DOI":"10.1016\/0022-3468(93)90120-A"},{"doi-asserted-by":"publisher","key":"e_1_2_6_4_2","DOI":"10.1007\/s00439-009-0722-x"},{"doi-asserted-by":"publisher","key":"e_1_2_6_5_2","DOI":"10.1016\/S0039-6109(16)43996-4"},{"doi-asserted-by":"publisher","key":"e_1_2_6_6_2","DOI":"10.1097\/CEJ.0b013e32834c9b6c"},{"doi-asserted-by":"publisher","key":"e_1_2_6_7_2","DOI":"10.1007\/s00423-011-0810-y"},{"doi-asserted-by":"publisher","key":"e_1_2_6_8_2","DOI":"10.1016\/j.bpg.2009.02.003"},{"doi-asserted-by":"publisher","key":"e_1_2_6_9_2","DOI":"10.1136\/jmg.2009.074237"},{"doi-asserted-by":"publisher","key":"e_1_2_6_10_2","DOI":"10.1016\/j.amjsurg.2006.11.025"},{"doi-asserted-by":"publisher","key":"e_1_2_6_11_2","DOI":"10.1111\/j.1399-0004.2009.01230.x"},{"doi-asserted-by":"publisher","key":"e_1_2_6_12_2","DOI":"10.1111\/j.1365-2354.2008.01066.x"},{"doi-asserted-by":"publisher","key":"e_1_2_6_13_2","DOI":"10.1136\/jmg.2009.073429"},{"doi-asserted-by":"publisher","key":"e_1_2_6_14_2","DOI":"10.1053\/gast.2000.20228"},{"doi-asserted-by":"publisher","key":"e_1_2_6_15_2","DOI":"10.1038\/ajg.2009.725"},{"doi-asserted-by":"publisher","key":"e_1_2_6_16_2","DOI":"10.1136\/jcp.50.9.771"},{"doi-asserted-by":"publisher","key":"e_1_2_6_17_2","DOI":"10.1007\/BF02306370"},{"doi-asserted-by":"publisher","key":"e_1_2_6_18_2","DOI":"10.1167\/iovs.10-5864"},{"doi-asserted-by":"publisher","key":"e_1_2_6_19_2","DOI":"10.1016\/j.ajhg.2010.11.005"},{"doi-asserted-by":"publisher","key":"e_1_2_6_20_2","DOI":"10.1038\/ng.413"},{"doi-asserted-by":"publisher","key":"e_1_2_6_21_2","DOI":"10.1038\/ng.780"},{"doi-asserted-by":"publisher","key":"e_1_2_6_22_2","DOI":"10.1038\/ng.788"},{"doi-asserted-by":"publisher","key":"e_1_2_6_23_2","DOI":"10.1038\/ng1090"},{"doi-asserted-by":"publisher","key":"e_1_2_6_24_2","DOI":"10.1093\/jnci\/92.3.205"},{"doi-asserted-by":"publisher","key":"e_1_2_6_25_2","DOI":"10.1101\/gr.107524.110"},{"doi-asserted-by":"publisher","key":"e_1_2_6_26_2","DOI":"10.1038\/ng.806"},{"doi-asserted-by":"publisher","key":"e_1_2_6_27_2","DOI":"10.1038\/sj.bjc.6601894"},{"doi-asserted-by":"publisher","key":"e_1_2_6_28_2","DOI":"10.1093\/bioinformatics\/btr462"},{"doi-asserted-by":"publisher","key":"e_1_2_6_29_2","DOI":"10.1101\/gr.092759.109"},{"doi-asserted-by":"publisher","key":"e_1_2_6_30_2","DOI":"10.1038\/nprot.2008.211"},{"doi-asserted-by":"publisher","key":"e_1_2_6_31_2","DOI":"10.1093\/nar\/gkn923"},{"doi-asserted-by":"publisher","key":"e_1_2_6_32_2","DOI":"10.1038\/ng.982"},{"doi-asserted-by":"publisher","key":"e_1_2_6_33_2","DOI":"10.1186\/1479-5876-9-119"},{"key":"e_1_2_6_34_2","first-page":"1298","article-title":"Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li\u2010Fraumeni families","volume":"54","author":"Birch JM","year":"1994","journal-title":"Cancer Res"},{"doi-asserted-by":"publisher","key":"e_1_2_6_35_2","DOI":"10.1002\/humu.20495"},{"doi-asserted-by":"publisher","key":"e_1_2_6_36_2","DOI":"10.1097\/GIM.0b013e31821628b6"},{"doi-asserted-by":"publisher","key":"e_1_2_6_37_2","DOI":"10.1007\/s11060-008-9579-4"},{"doi-asserted-by":"publisher","key":"e_1_2_6_38_2","DOI":"10.1038\/35017038"},{"doi-asserted-by":"publisher","key":"e_1_2_6_39_2","DOI":"10.1038\/bjc.2011.390"},{"doi-asserted-by":"publisher","key":"e_1_2_6_40_2","DOI":"10.1517\/14656566.2011.605354"},{"doi-asserted-by":"publisher","key":"e_1_2_6_41_2","DOI":"10.1016\/S0140-6736(10)61121-X"}],"container-title":["Pediatric Blood &amp; 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