Literature DB >> 22717761

Novel germline c-MET mutation in a family with hereditary papillary renal carcinoma.

Karin A W Wadt1, Anne-Marie Gerdes, Thomas V O Hansen, Birgitte G Toft, Lennart Friis-Hansen, Mette K Andersen.   

Abstract

Hereditary papillary renal carcinoma (HPRC) is a highly penetrant hereditary renal cancer syndrome caused by germline missense mutations in the c-MET proto-oncogene. HPRC is clinically characterized by multiple bilateral papillary renal-cell carcinomas. Here we report a family with a novel missense mutation in c-MET. The original pathology report of four primary kidney cancers (1988-1997) revealed renal-cell carcinoma. A revised report described multiple adenomas and papillary renal-cell carcinomas with focal clear cells and a mixture of type 1 and type 2 pattern, emphasizing the importance of revised pathology examinations in possible hereditary renal-cell carcinomas especially when described before 1997.

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Year:  2012        PMID: 22717761     DOI: 10.1007/s10689-012-9542-6

Source DB:  PubMed          Journal:  Fam Cancer        ISSN: 1389-9600            Impact factor:   2.375


  10 in total

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Authors:  Christian P Pavlovich; Laura S Schmidt
Journal:  Nat Rev Cancer       Date:  2004-05       Impact factor: 60.716

2.  Papillary renal cell carcinoma: a clinicopathologic and immunohistochemical study of 105 tumors.

Authors:  B Delahunt; J N Eble
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Review 4.  Hereditary renal cancer syndromes: an update of a systematic review.

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5.  Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas.

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Journal:  Nat Genet       Date:  1997-05       Impact factor: 38.330

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7.  Novel mutations of the MET proto-oncogene in papillary renal carcinomas.

Authors:  L Schmidt; K Junker; N Nakaigawa; T Kinjerski; G Weirich; M Miller; I Lubensky; H P Neumann; H Brauch; J Decker; C Vocke; J A Brown; R Jenkins; S Richard; U Bergerheim; B Gerrard; M Dean; W M Linehan; B Zbar
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9.  Novel mutation in the ATP-binding site of the MET oncogene tyrosine kinase in a HPRCC family.

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10.  Early onset hereditary papillary renal carcinoma: germline missense mutations in the tyrosine kinase domain of the met proto-oncogene.

Authors:  Laura S Schmidt; Michael L Nickerson; Debora Angeloni; Gladys M Glenn; McClellan M Walther; Paul S Albert; Michelle B Warren; Peter L Choyke; Carlos A Torres-Cabala; Maria J Merino; Joan Brunet; Victòria Bérez; Joan Borràs; Giovanni Sesia; Lindsay Middelton; John L Phillips; Catherine Stolle; Berton Zbar; Stephen E Pautler; W Marston Linehan
Journal:  J Urol       Date:  2004-10       Impact factor: 7.450

  10 in total
  3 in total

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2.  Case of Hereditary Papillary Renal Cell Carcinoma Type I in a Patient With a Germline MET Mutation in Russia.

Authors:  Dmitry S Mikhaylenko; Alexey V Klimov; Vsevolod B Matveev; Svetlana I Samoylova; Vladimir V Strelnikov; Dmitry V Zaletaev; Ludmila N Lubchenko; Boris Y Alekseev; Marina V Nemtsova
Journal:  Front Oncol       Date:  2020-01-21       Impact factor: 6.244

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  3 in total

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