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Article: Biallelic PMS2 mutations and a distinctive childhood cancer syndrome

TitleBiallelic PMS2 mutations and a distinctive childhood cancer syndrome
Authors
Issue Date2008
PublisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.jpho-online.com
Citation
Journal Of Pediatric Hematology/Oncology, 2008, v. 30 n. 3, p. 254-257 How to Cite?
AbstractBiallelic mutations in PMS2, a gene usually associated in heterozygous form with hereditary nonpolyposis colorectal cancer (HNPCC), results in a recently described childhood cancer syndrome. The tumor spectrum encompasses atypical brain cancers, hematologic malignancies, and colonic polyposis and cancer. Cutaneous stigmata resembling café-au-lait macules with more diffuse margins are frequently seen. Onset is as young as 2 years. The risk of second malignancy is high. Evidence exists for surveillance for bowel cancer, but surveillance for the wider tumor spectrum is of uncertain benefit. We report a consanguineous Australian-Lebanese family with multiple affected individuals shown to be homozygous for a PMS2 exon 7 deletion. We also review published cases of biallelic mutations in HNPCC-related genes. Early recognition of this familial cancer syndrome is critical, and should prompt investigation for familial HNPCC mutations. © 2008 Lippincott Williams & Wilkins, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/170394
ISSN
2015 Impact Factor: 1.146
2015 SCImago Journal Rankings: 0.452
References

 

DC FieldValueLanguage
dc.contributor.authorTan, TYen_US
dc.contributor.authorOrme, LMen_US
dc.contributor.authorLynch, Een_US
dc.contributor.authorCroxford, MAen_US
dc.contributor.authorDow, Cen_US
dc.contributor.authorDewan, PAen_US
dc.contributor.authorLipton, Len_US
dc.date.accessioned2012-10-30T06:08:00Z-
dc.date.available2012-10-30T06:08:00Z-
dc.date.issued2008en_US
dc.identifier.citationJournal Of Pediatric Hematology/Oncology, 2008, v. 30 n. 3, p. 254-257en_US
dc.identifier.issn1077-4114en_US
dc.identifier.urihttp://hdl.handle.net/10722/170394-
dc.description.abstractBiallelic mutations in PMS2, a gene usually associated in heterozygous form with hereditary nonpolyposis colorectal cancer (HNPCC), results in a recently described childhood cancer syndrome. The tumor spectrum encompasses atypical brain cancers, hematologic malignancies, and colonic polyposis and cancer. Cutaneous stigmata resembling café-au-lait macules with more diffuse margins are frequently seen. Onset is as young as 2 years. The risk of second malignancy is high. Evidence exists for surveillance for bowel cancer, but surveillance for the wider tumor spectrum is of uncertain benefit. We report a consanguineous Australian-Lebanese family with multiple affected individuals shown to be homozygous for a PMS2 exon 7 deletion. We also review published cases of biallelic mutations in HNPCC-related genes. Early recognition of this familial cancer syndrome is critical, and should prompt investigation for familial HNPCC mutations. © 2008 Lippincott Williams & Wilkins, Inc.en_US
dc.languageengen_US
dc.publisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.jpho-online.comen_US
dc.relation.ispartofJournal of Pediatric Hematology/Oncologyen_US
dc.subject.meshAdenosine Triphosphatases - Geneticsen_US
dc.subject.meshAdolescenten_US
dc.subject.meshBrain Neoplasms - Diagnosis - Genetics - Therapyen_US
dc.subject.meshChilden_US
dc.subject.meshColorectal Neoplasms, Hereditary Nonpolyposis - Diagnosis - Genetics - Therapyen_US
dc.subject.meshConsanguinityen_US
dc.subject.meshDna Mismatch Repairen_US
dc.subject.meshDna Repair Enzymes - Geneticsen_US
dc.subject.meshDna-Binding Proteins - Geneticsen_US
dc.subject.meshExonsen_US
dc.subject.meshFatal Outcomeen_US
dc.subject.meshFemaleen_US
dc.subject.meshFollow-Up Studiesen_US
dc.subject.meshGlioblastoma - Diagnosis - Genetics - Therapyen_US
dc.subject.meshHomozygoteen_US
dc.subject.meshHumansen_US
dc.subject.meshImmunohistochemistryen_US
dc.subject.meshMaleen_US
dc.subject.meshMutation, Missenseen_US
dc.subject.meshNeoplasms, Multiple Primary - Diagnosis - Genetics - Therapyen_US
dc.subject.meshSequence Deletionen_US
dc.subject.meshSyndromeen_US
dc.titleBiallelic PMS2 mutations and a distinctive childhood cancer syndromeen_US
dc.typeArticleen_US
dc.identifier.emailTan, TY:tanty@hku.hken_US
dc.identifier.authorityTan, TY=rp01380en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1097/MPH.0b013e318161aa20en_US
dc.identifier.pmid18376293en_US
dc.identifier.scopuseid_2-s2.0-41849129585en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-41849129585&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume30en_US
dc.identifier.issue3en_US
dc.identifier.spage254en_US
dc.identifier.epage257en_US
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridTan, TY=8567188100en_US
dc.identifier.scopusauthoridOrme, LM=8263727100en_US
dc.identifier.scopusauthoridLynch, E=8669864600en_US
dc.identifier.scopusauthoridCroxford, MA=16067892000en_US
dc.identifier.scopusauthoridDow, C=7006206468en_US
dc.identifier.scopusauthoridDewan, PA=7101857761en_US
dc.identifier.scopusauthoridLipton, L=7003275508en_US

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