{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T07:39:53Z","timestamp":1777621193234,"version":"3.51.4"},"reference-count":31,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2019,1,8]],"date-time":"2019-01-08T00:00:00Z","timestamp":1546905600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","award":["P30 CA008748"],"award-info":[{"award-number":["P30 CA008748"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["acsjournals.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Cancer"],"published-print":{"date-parts":[[2019,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Ampullary carcinoma (AC) is a rare gastrointestinal cancer. Pathogenic germline alterations (PGAs) in\n                      <jats:italic>BRCA2<\/jats:italic>\n                      and potentially targetable somatic alterations (SAs) in\n                      <jats:italic>ERBB2<\/jats:italic>\n                      and\n                      <jats:italic>ELF3<\/jats:italic>\n                      have been previously described in AC. Memorial Sloan Kettering Cancer Center has implemented an opt\u2010in strategy for germline testing (GT) and somatic testing (ST) for patients with AC to further evaluate the spectrum of PGAs and SAs.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Forty\u2010five patients with pathologically confirmed AC prospectively consented with the Memorial Sloan Kettering Integrated Mutation Profiling of Actionable Cancer Targets (MSK\u2010IMPACT) test (410\u2010468 genes). A subset of the cohort (23 of the 45 patients) also consented to GT with MSK\u2010IMPACT (76\u201088 genes). Germline data for 21 of the remaining 22 patients who had not consented to GT were obtained in a de\u2010identified fashion without clinical correlation. Clinicopathologic features, treatment histories, and survival data for consenting patients were collected and analyzed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Pancreaticobiliary, intestinal, and mixed features of the 2 types were the primary pathologic subtypes of AC identified in this cohort. No difference in median overall survival was found between pathologic subtypes. Eight of 44 patients (18%) were identified as harboring pathogenic mutations in\n                      <jats:italic>BRCA2<\/jats:italic>\n                      ,\n                      <jats:italic>ATM<\/jats:italic>\n                      ,\n                      <jats:italic>RAD50<\/jats:italic>\n                      , and\n                      <jats:italic>MUTYH<\/jats:italic>\n                      . In addition, this study found a wide spectrum of SAs in genes such as\n                      <jats:italic>KRAS<\/jats:italic>\n                      ,\n                      <jats:italic>MDM2<\/jats:italic>\n                      ,\n                      <jats:italic>ERBB2<\/jats:italic>\n                      ,\n                      <jats:italic>ELF3<\/jats:italic>\n                      , and\n                      <jats:italic>PIK3CA<\/jats:italic>\n                      . Two patients in the cohort underwent SA\u2010targeted therapy, and 1 had a partial radiographic response.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Mutations in multiple somatic and germline genes were identified in this cohort. Significantly, actionable targets were identified in the tumors, and broader testing for PGAs and SAs should be considered for all patients with AC.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/cncr.31951","type":"journal-article","created":{"date-parts":[[2019,1,9]],"date-time":"2019-01-09T01:47:14Z","timestamp":1546998434000},"page":"1441-1448","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":40,"title":["Ampullary cancer: Evaluation of somatic and germline genetic alterations and association with clinical outcomes"],"prefix":"10.1002","volume":"125","author":[{"given":"Winston","family":"Wong","sequence":"first","affiliation":[{"name":"Department of Medicine Memorial Sloan Kettering Cancer Center New York New York"},{"name":"Weill Cornell Department of Medicine Weill Cornell Medicine New York New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maeve A.","family":"Lowery","sequence":"additional","affiliation":[{"name":"Department of Medicine Memorial Sloan Kettering Cancer Center New York New York"},{"name":"Weill Cornell Department of Medicine Weill Cornell Medicine New York New York"},{"name":"David M. Rubenstein Center for Pancreatic Research Memorial Sloan Kettering Cancer Center New York New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael F.","family":"Berger","sequence":"additional","affiliation":[{"name":"Robert and Kate Niehaus Center for Inherited Genomics Memorial Sloan Kettering Cancer Center New York New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yelena","family":"Kemel","sequence":"additional","affiliation":[{"name":"Robert and Kate Niehaus Center for Inherited Genomics Memorial Sloan Kettering Cancer Center New York New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barry","family":"Taylor","sequence":"additional","affiliation":[{"name":"Robert and Kate Niehaus Center for Inherited Genomics Memorial Sloan Kettering Cancer Center New York New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmet","family":"Zehir","sequence":"additional","affiliation":[{"name":"Robert and Kate Niehaus Center for Inherited Genomics Memorial Sloan Kettering Cancer Center New York New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Preethi","family":"Srinivasan","sequence":"additional","affiliation":[{"name":"Robert and Kate Niehaus Center for Inherited Genomics Memorial Sloan Kettering Cancer Center New York New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chaitanya","family":"Bandlamudi","sequence":"additional","affiliation":[{"name":"Department of Molecular Oncology Memorial Sloan Kettering Cancer Center New York New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joanne","family":"Chou","sequence":"additional","affiliation":[{"name":"Department of Epidemiology and Biostatistics Memorial Sloan Kettering Cancer Center New York New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marinela","family":"Capanu","sequence":"additional","affiliation":[{"name":"Department of Epidemiology and Biostatistics Memorial Sloan Kettering Cancer Center New York New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Varghese","sequence":"additional","affiliation":[{"name":"Department of Medicine Memorial Sloan Kettering Cancer Center New York New York"},{"name":"Weill Cornell Department of Medicine Weill Cornell Medicine New York New York"},{"name":"David M. Rubenstein Center for Pancreatic Research Memorial Sloan Kettering Cancer Center New York New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4774-2672","authenticated-orcid":false,"given":"Kenneth H.","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Medicine Memorial Sloan Kettering Cancer Center New York New York"},{"name":"Weill Cornell Department of Medicine Weill Cornell Medicine New York New York"},{"name":"David M. Rubenstein Center for Pancreatic Research Memorial Sloan Kettering Cancer Center New York New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine A.","family":"Iacobuzio\u2010Donahue","sequence":"additional","affiliation":[{"name":"David M. Rubenstein Center for Pancreatic Research Memorial Sloan Kettering Cancer Center New York New York"},{"name":"Department of Pathology Memorial Sloan Kettering Cancer Center New York New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jinru","family":"Shia","sequence":"additional","affiliation":[{"name":"Department of Pathology Memorial Sloan Kettering Cancer Center New York New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David S.","family":"Klimstra","sequence":"additional","affiliation":[{"name":"Department of Surgery Memorial Sloan Kettering Cancer Center New York New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William R.","family":"Jarnagin","sequence":"additional","affiliation":[{"name":"Department of Surgery Memorial Sloan Kettering Cancer Center New York New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zsofia K.","family":"Stadler","sequence":"additional","affiliation":[{"name":"Department of Medicine Memorial Sloan Kettering Cancer Center New York New York"},{"name":"Weill Cornell Department of Medicine Weill Cornell Medicine New York New York"},{"name":"David M. Rubenstein Center for Pancreatic Research Memorial Sloan Kettering Cancer Center New York New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8076-9199","authenticated-orcid":false,"given":"Eileen M.","family":"O\u2019Reilly","sequence":"additional","affiliation":[{"name":"Department of Medicine Memorial Sloan Kettering Cancer Center New York New York"},{"name":"Weill Cornell Department of Medicine Weill Cornell Medicine New York New York"},{"name":"David M. Rubenstein Center for Pancreatic Research Memorial Sloan Kettering Cancer Center New York New York"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,1,8]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00042737-200012010-00014"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0b013e31826399d8"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2012.46.8868"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPA.0b013e318258fda8"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.4251\/wjgo.v8.i10.745"},{"key":"e_1_2_8_7_1","first-page":"423","article-title":"Targeted agents and oxaliplatin\u2010containing regimens for the treatment of colon cancer","volume":"34","author":"Bonetti A","year":"2014","journal-title":"Anticancer Res"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2014.60.0213"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.21037\/cco.2017.06.14"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2015.08.056"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1158\/2159-8290.CD-17-0245"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.2217\/fon-2017-0451"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/djy024"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.31218"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1500596"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.aan6733"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-17-3099"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0161438"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2017.11137"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12029-017-0040-9"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/modpathol.2015.57"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2015.12.005"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccell.2015.12.012"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00428-008-0669-7"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1309\/AJCPGDDE8PLLDRCC"},{"key":"e_1_2_8_26_1","first-page":"17.00011","article-title":"OncoKB: a precision oncology knowledge base","volume":"2017","author":"Chakravarty D","year":"2017","journal-title":"JCO Precis Oncol"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm.4333"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btt755"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkw520"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1603144"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.3116"},{"key":"e_1_2_8_32_1","first-page":"627","article-title":"Emerging role of MDM2 as target for anti\u2010cancer therapy: a review","volume":"46","author":"Shaikh MF","year":"2016","journal-title":"Ann Clin Lab Sci"}],"container-title":["Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fcncr.31951","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/cncr.31951","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/cncr.31951","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/acsjournals.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/cncr.31951","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T05:56:09Z","timestamp":1761890169000},"score":1,"resource":{"primary":{"URL":"https:\/\/acsjournals.onlinelibrary.wiley.com\/doi\/10.1002\/cncr.31951"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,1,8]]},"references-count":31,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2019,5]]}},"alternative-id":["10.1002\/cncr.31951"],"URL":"https:\/\/doi.org\/10.1002\/cncr.31951","archive":["Portico"],"relation":{},"ISSN":["0008-543X","1097-0142"],"issn-type":[{"value":"0008-543X","type":"print"},{"value":"1097-0142","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,1,8]]},"assertion":[{"value":"2018-09-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-10-31","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-01-08","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}