{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T01:02:46Z","timestamp":1791939766360,"version":"4.3.4"},"reference-count":20,"publisher":"BMJ","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1997,12]]},"abstract":"<jats:p>Peutz-Jeghers syndrome (PJS, MIM 175,2000) is a disease of autosomal dominant inheritance that is characterised by hamartomatous gastrointestinal polyps and mucocutaneous pigmentation. In addition to problems such as intussusception, PJS predisposes to cancers of several sites. The unusual combination of clinical features makes the identification of the defect underlying PJS particularly interesting. Recently, the PJS gene has been mapped to chromosome 19p13.<\/jats:p>","DOI":"10.1136\/jmg.34.12.1007","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"1007-1011","source":"Crossref","is-referenced-by-count":219,"title":["Peutz-Jeghers syndrome."],"prefix":"10.1136","volume":"34","author":[{"given":"I P","family":"Tomlinson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R S","family":"Houlston","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1997,12,1]]},"reference":[{"issue":"10","key":"ref_1","first-page":"13446","article-title":"Very remarkable case of familial polyposis of mucous membrane of intestinal tract and nasopharynx accompanied by peculiar pigmentations of skin and mucous membrane","volume":"1921","author":"Peutz, J.L.A.","unstructured":"Peutz JLA. Very remarkable case of familial polyposis of mucous membrane of intestinal tract and nasopharynx accompanied by peculiar pigmentations of skin and mucous membrane. Ned Maandschr Geneeskd 1921;10: 13446.","journal-title":"Ned Maandschr Geneeskd"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"993","DOI":"10.1056\/NEJM194912222412501","article-title":"Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits","volume":"241","author":"Jeghers, H.; McKusick, V.A.; Katz, K.H.","year":"1949","unstructured":"Jeghers H, McKusick VA, Katz KH. Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits. N Engl J Med 1949;241:993-1005.","journal-title":"N Engl J Med"},{"key":"ref_3","first-page":"71","article-title":"Peutz-Jeghers syndrome: its natural course and management","volume":"136","author":"Utsunomiya, J.; Gocho, H.; Miyanage, T.; Hamaguchi, E.; Kashimure, A.","year":"1975","unstructured":"Utsunomiya J, Gocho H, Miyanage T, Hamaguchi E, Kashimure A. Peutz-Jeghers syndrome: its natural course and management. Johns Hopkins MedJ 1975;136:71-85.","journal-title":"Johns Hopkins MedJ"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"2139","DOI":"10.1002\/1097-0142(19821115)50:10<2139::AID-CNCR2820501028>3.0.CO;2-K","article-title":"Peutz-Jeghers syndrome: a clinicopathologic study of a large family with a 27-year follow-up","volume":"50","author":"Burdick, D.; Prior, J.T.","year":"1982","unstructured":"Burdick D, Prior JT. Peutz-Jeghers syndrome: a clinicopathologic study of a large family with a 27-year follow-up. Cancer 1982;50:2139-46.","journal-title":"Cancer"},{"key":"ref_5","first-page":"1535","article-title":"Peutz-Jeghers syndrome: a clinicopathologic survey of the 'Harrisburg family'","volume-title":"with a 49-year follow-up. Gastroenterology 1988; 95","author":"Foley, T.R.; McGarrity, T.J.; Abt, A.B.","unstructured":"Foley TR, McGarrity TJ, Abt AB. Peutz-Jeghers syndrome: a clinicopathologic survey of the 'Harrisburg family' with a 49-year follow-up. Gastroenterology 1988;95: 1535-40."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1001\/jama.1970.03170010074018","article-title":"Peutz-Jeghers syndrome and ureteral polyposis","volume":"211","author":"Sommerhaug, R.G.; Mason, T.","year":"1970","unstructured":"Sommerhaug RG, Mason T. Peutz-Jeghers syndrome and ureteral polyposis. JAAM 1970;211:120-2.","journal-title":"JAAM"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1511","DOI":"10.1056\/NEJM198706113162404","article-title":"Increased risk of cancer in the Peutz-Jeghers syndrome","volume":"316","author":"Giardiello, F.M.; Welsh, S.B.; Hamilton, SR","year":"1987","unstructured":"Giardiello FM, Welsh SB, Hamilton SR, et al. Increased risk of cancer in the Peutz-Jeghers syndrome. N Engl _J Med 1987;316:1511-14.","journal-title":"N Engl _J Med"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1182","DOI":"10.1001\/archsurg.1981.01380210054011","article-title":"Does Peutz-Jeghers syndrome predispose to gastrointestinal malignancy?","volume":"116","author":"Linos, D.A.; Dozois, R.R.; Dahlin, D.C.; Bartholomew, L.G.","year":"1981","unstructured":"Linos DA, Dozois RR, Dahlin DC, Bartholomew LG. Does Peutz-Jeghers syndrome predispose to gastrointestinal malignancy? Arch Surg 1981;116:1182-4.","journal-title":"Arch Surg"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1588","DOI":"10.1136\/gut.30.11.1588","article-title":"Cancer and the Peutz-Jeghers syndrome","volume":"30","author":"Spigelman, A.D.; Murday, V.; Phillips, R.K.S.","year":"1989","unstructured":"Spigelman AD, Murday V, Phillips RKS. Cancer and the Peutz-Jeghers syndrome. Gut 1989;30: 1588-90.","journal-title":"Gut"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1384","DOI":"10.1002\/1097-0142(19821001)50:7<1384::AID-CNCR2820500726>3.0.CO;2-5","article-title":"Ovarian sex cord tumor with annular tubules: review of 74 cases including 27 with Peutz-Jeghers syndrome and four with adenoma malignum of the cervix","volume":"50","author":"Young, R.H.; Welch, W.R.; Dickersin, R.; Scully, R.E.","year":"1982","unstructured":"Young RH, Welch WR, Dickersin R, Scully RE. Ovarian sex cord tumor with annular tubules: review of 74 cases including 27 with Peutz-Jeghers syndrome and four with adenoma malignum of the cervix. Cancer 1982;50:1384-402.","journal-title":"Cancer"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1097\/00000478-199501000-00007","article-title":"Feminizing Sertoli cell tumors in boys with Peutz-Jeghers syndrome","volume":"19","author":"Young, S.; Gooneratne, S.; Straus, F.H.; Zeller, W.P.; Bulun, S.E.; Rosenthal, I.M.","year":"1995","unstructured":"Young S, Gooneratne S, Straus FH, Zeller WP, Bulun SE, Rosenthal IM. Feminizing Sertoli cell tumors in boys with Peutz-Jeghers syndrome. Am Y Surg Pathol 1995;19:50-5.","journal-title":"Am Y Surg Pathol"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"2238","DOI":"10.1002\/1097-0142(19860601)57:11<2238::AID-CNCR2820571128>3.0.CO;2-C","article-title":"Testicular tumors with Peutz-Jeghers syndrome","volume":"57","author":"Wilson, D.M.; Pitts, W.C.; Hintz, R.L.; Rosenfeld, R.G.","year":"1986","unstructured":"Wilson DM, Pitts WC, Hintz RL, Rosenfeld RG. Testicular tumors with Peutz-Jeghers syndrome. Cancer 1986;57: 2238-40.","journal-title":"Cancer"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1056\/NEJM199101313240507","article-title":"An aromataseproducing sex-cord tumor resulting in prepubertal gynecomastia","volume":"324","author":"Coen, P.; Kulin, H.; Ballantine, T.","year":"1991","unstructured":"Coen P, Kulin H, Ballantine T, et al. An aromataseproducing sex-cord tumor resulting in prepubertal gynecomastia. N EnglY Med 1991;324:317-22.","journal-title":"N EnglY Med"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1002\/1097-0142(19800701)46:1<223::AID-CNCR2820460137>3.0.CO;2-8","article-title":"PeutzJeghers syndrome with feminizing Sertoli cell tumor","volume":"46","author":"Cantu, J.M.; Rivera, H.; Ocampo-Campos, R.","year":"1980","unstructured":"Cantu JM, Rivera H, Ocampo-Campos R, et al. PeutzJeghers syndrome with feminizing Sertoli cell tumor. Cancer 1980;46:223-8.","journal-title":"Cancer"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1136\/jmg.34.7.582","article-title":"Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis)","volume":"34","author":"Coppin, B.D.; Temple, I.K.","year":"1997","unstructured":"Coppin BD, Temple IK. Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis). Med Genet 1997;34:582-6.","journal-title":"Med Genet"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1111\/j.1346-8138.1981.tb02587.x","article-title":"Ultrastructural studies on pigmented macules of the Peutz-Jeghers syndrome","volume":"8","author":"Yamada, K.; Matsukawa, A.; Hori, Y.; Kukita, A.","year":"1981","unstructured":"Yamada K, Matsukawa A, Hori Y, Kukita A. Ultrastructural studies on pigmented macules of the Peutz-Jeghers syndrome. Dermatol 1981;8:367-77.","journal-title":"Dermatol"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1007\/s004390050173","article-title":"A pericentric inversion of chromosome six in a patient with Peutz-Jeghers syndrome and the use of FISH to localise the breakpoints on a genetic map","volume":"98","author":"Markie, D.; Huson, S.; Maher, E.; Davies, A.; Tomlinson, I.P.M.; Bodmer, W.F.","year":"1996","unstructured":"Markie D, Huson S, Maher E, Davies A, Tomlinson IPM, Bodmer WF. A pericentric inversion of chromosome six in a patient with Peutz-Jeghers syndrome and the use of FISH to localise the breakpoints on a genetic map. Hum Genet 1996;98: 125-8.","journal-title":"Hum Genet"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1111\/j.1469-1809.1996.tb00435.x","article-title":"Testing candidate loci on chromosome 1 and chromosome 6 for genetic linkage to Peutz-Jeghers disease","volume":"60","author":"Tomlinson, I.P.M.; Olschwang, S.; Abelovitch, D.","year":"1996","unstructured":"Tomlinson IPM, Olschwang S, Abelovitch D, et al. Testing candidate loci on chromosome 1 and chromosome 6 for genetic linkage to Peutz-Jeghers disease. Ann Hum Genet 1996;60:377-84.","journal-title":"Ann Hum Genet"},{"key":"ref_19","first-page":"186","article-title":"Peutz-Jeghers syndrome maps to chromosome lp","volume":"57","author":"Bali, D.; Gourley, I.S.; McGarrity, T.J.","year":"1995","unstructured":"Bali D, Gourley IS, McGarrity TJ, et al. Peutz-Jeghers syndrome maps to chromosome lp. AmJrHum Genet 1995;57: A186.","journal-title":"AmJrHum Genet"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1038\/ng0197-87","article-title":"Localization of a susceptibility locus for Peutz-Jeghers syndrome to l9p using comparative genomic hybridization and targeted linkage analysis","volume":"15","author":"Hemminki, A.; Tomlinson, I.; Markie, D.","year":"1997","unstructured":"Hemminki A, Tomlinson I, Markie D, et al. Localization of a susceptibility locus for Peutz-Jeghers syndrome to l9p using comparative genomic hybridization and targeted linkage analysis. Nat Genet 1997;15:87-90.","journal-title":"Nat Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.34.12.1007","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:46:14Z","timestamp":1760737574000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.34.12.1007"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,12]]},"references-count":20,"journal-issue":{"issue":"12","published-online":{"date-parts":[[1997,12,1]]},"published-print":{"date-parts":[[1997,12]]}},"alternative-id":["10.1136\/jmg.34.12.1007"],"URL":"https:\/\/doi.org\/10.1136\/jmg.34.12.1007","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1997,12]]}}}