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Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families.
Cancer Res. 2002 Aug 15; 62(16):4554-7.CR

Abstract

Loss of function mutations in the fumarate hydratase (fumarase, FH) gene were recently identified as the cause for dominantly inherited uterine and cutaneous leiomyomas and renal cell cancer. To further evaluate the role of FH in tumorigenesis, we screened FH mutations from tumor types seen in hereditary leiomyomatosis and renal cell cancer mutation carriers-41 uterine and 10 cutaneous leiomyomas, 52 renal cell carcinomas, 53 sarcomas, 29 prostate carcinomas, and 15 lobular breast carcinomas. Few mutations were detected. Biallelic inactivation of FH was found in one uterine leiomyosarcoma, one cutaneous leiomyoma, and one soft tissue sarcoma. Whereas the two former lesions were shown to originate from a germ-line mutation, the soft tissue sarcoma is to our knowledge the first example of purely somatic inactivation of FH in tumors.

Authors+Show Affiliations

Department of Medical Genetics, Biomedicum Helsinki or Haartman Institute, University of Helsinki, FIN-00014 Helsinki, Finland.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

12183404

Citation

Kiuru, Maija, et al. "Few FH Mutations in Sporadic Counterparts of Tumor Types Observed in Hereditary Leiomyomatosis and Renal Cell Cancer Families." Cancer Research, vol. 62, no. 16, 2002, pp. 4554-7.
Kiuru M, Lehtonen R, Arola J, et al. Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families. Cancer Res. 2002;62(16):4554-7.
Kiuru, M., Lehtonen, R., Arola, J., Salovaara, R., Järvinen, H., Aittomäki, K., Sjöberg, J., Visakorpi, T., Knuutila, S., Isola, J., Delahunt, B., Herva, R., Launonen, V., Karhu, A., & Aaltonen, L. A. (2002). Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families. Cancer Research, 62(16), 4554-7.
Kiuru M, et al. Few FH Mutations in Sporadic Counterparts of Tumor Types Observed in Hereditary Leiomyomatosis and Renal Cell Cancer Families. Cancer Res. 2002 Aug 15;62(16):4554-7. PubMed PMID: 12183404.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families. AU - Kiuru,Maija, AU - Lehtonen,Rainer, AU - Arola,Johanna, AU - Salovaara,Reijo, AU - Järvinen,Heikki, AU - Aittomäki,Kristiina, AU - Sjöberg,Jari, AU - Visakorpi,Tapio, AU - Knuutila,Sakari, AU - Isola,Jorma, AU - Delahunt,Brett, AU - Herva,Riitta, AU - Launonen,Virpi, AU - Karhu,Auli, AU - Aaltonen,Lauri A, PY - 2002/8/17/pubmed PY - 2002/9/26/medline PY - 2002/8/17/entrez SP - 4554 EP - 7 JF - Cancer research JO - Cancer Res VL - 62 IS - 16 N2 - Loss of function mutations in the fumarate hydratase (fumarase, FH) gene were recently identified as the cause for dominantly inherited uterine and cutaneous leiomyomas and renal cell cancer. To further evaluate the role of FH in tumorigenesis, we screened FH mutations from tumor types seen in hereditary leiomyomatosis and renal cell cancer mutation carriers-41 uterine and 10 cutaneous leiomyomas, 52 renal cell carcinomas, 53 sarcomas, 29 prostate carcinomas, and 15 lobular breast carcinomas. Few mutations were detected. Biallelic inactivation of FH was found in one uterine leiomyosarcoma, one cutaneous leiomyoma, and one soft tissue sarcoma. Whereas the two former lesions were shown to originate from a germ-line mutation, the soft tissue sarcoma is to our knowledge the first example of purely somatic inactivation of FH in tumors. SN - 0008-5472 UR - https://www.unboundmedicine.com/medline/citation/12183404/Few_FH_mutations_in_sporadic_counterparts_of_tumor_types_observed_in_hereditary_leiomyomatosis_and_renal_cell_cancer_families_ L2 - http://cancerres.aacrjournals.org/cgi/pmidlookup?view=long&pmid=12183404 DB - PRIME DP - Unbound Medicine ER -