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

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Novel germline c-MET mutation in a family with hereditary papillary renal carcinoma. / Wadt, Karin; Gerdes, Anne-Marie; Hansen, Thomas V O; Toft, Birgitte G; Friis-Hansen, Lennart; Andersen, Mette K.

I: Familial Cancer, Bind 11, Nr. 3, 2012, s. 535-7.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Wadt, K, Gerdes, A-M, Hansen, TVO, Toft, BG, Friis-Hansen, L & Andersen, MK 2012, 'Novel germline c-MET mutation in a family with hereditary papillary renal carcinoma', Familial Cancer, bind 11, nr. 3, s. 535-7. https://doi.org/10.1007/s10689-012-9542-6

APA

Wadt, K., Gerdes, A-M., Hansen, T. V. O., Toft, B. G., Friis-Hansen, L., & Andersen, M. K. (2012). Novel germline c-MET mutation in a family with hereditary papillary renal carcinoma. Familial Cancer, 11(3), 535-7. https://doi.org/10.1007/s10689-012-9542-6

Vancouver

Wadt K, Gerdes A-M, Hansen TVO, Toft BG, Friis-Hansen L, Andersen MK. Novel germline c-MET mutation in a family with hereditary papillary renal carcinoma. Familial Cancer. 2012;11(3):535-7. https://doi.org/10.1007/s10689-012-9542-6

Author

Wadt, Karin ; Gerdes, Anne-Marie ; Hansen, Thomas V O ; Toft, Birgitte G ; Friis-Hansen, Lennart ; Andersen, Mette K. / Novel germline c-MET mutation in a family with hereditary papillary renal carcinoma. I: Familial Cancer. 2012 ; Bind 11, Nr. 3. s. 535-7.

Bibtex

@article{75889b99c75242788d4c185e4cc0f584,

title = "Novel germline c-MET mutation in a family with hereditary papillary renal carcinoma",

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.",

author = "Karin Wadt and Anne-Marie Gerdes and Hansen, {Thomas V O} and Toft, {Birgitte G} and Lennart Friis-Hansen and Andersen, {Mette K}",

year = "2012",

doi = "10.1007/s10689-012-9542-6",

language = "English",

volume = "11",

pages = "535--7",

journal = "Familial Cancer",

issn = "1389-9600",

publisher = "Springer",

number = "3",

}

RIS

TY - JOUR

T1 - Novel germline c-MET mutation in a family with hereditary papillary renal carcinoma

AU - Wadt, Karin

AU - Gerdes, Anne-Marie

AU - Hansen, Thomas V O

AU - Toft, Birgitte G

AU - Friis-Hansen, Lennart

AU - Andersen, Mette K

PY - 2012

Y1 - 2012

N2 - 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.

AB - 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.

U2 - 10.1007/s10689-012-9542-6

DO - 10.1007/s10689-012-9542-6

M3 - Journal article

VL - 11

SP - 535

EP - 537

JO - Familial Cancer

JF - Familial Cancer

SN - 1389-9600

IS - 3

ER -

ID: 48450201