Journal article
Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: Detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer
Cancer Genetics and Cytogenetics, Vol.183(2), pp.83-88
2008
Abstract
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a syndrome predisposing to cutaneous and uterine leiomyomatosis as well as renal cell cancer and uterine leiomyosarcoma. Heterozygous germline mutations in the fumarate hydratase (FH, fumarase) gene are known to cause HLRCC. On occasion, no FH mutation is detected by direct sequencing, despite the evident HLRCC phenotype in a family. In the present study, to investigate whole gene or exonic deletions and amplifications in FH mutation-negative patients, we used multiplex ligation-dependent probe amplification technology. The study material comprised 7 FH mutation-negative HLRCC patients and 12 patients affected with HLRCC-associated phenotypes, including papillary RCC, early-onset RCC, uterine leiomyomas, or uterine leiomyosarcoma. A novel FH mutation, a deletion of FH exon 1 that encodes the mitochondrial signal peptide, was detected in one of the HLRCC patients (1/7). The patient with the FH mutation displayed numerous painful cutaneous leiomyomas and papillary type renal cell cancer. Our finding, together with the two patients with whole FH gene deletion who had been detected previously, suggests that exonic or whole-gene FH deletions are not a frequent cause of HLRCC syndrome.
Details
- Title
- Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: Detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer
- Authors/Creators
- T. Ahvenainen (Author/Creator) - University of HelsinkiH.J. Lehtonen (Author/Creator) - University of HelsinkiR. Lehtonen (Author/Creator) - University of HelsinkiP. Vahteristo (Author/Creator) - University of HelsinkiK. Aittomäki (Author/Creator) - Helsinki University HospitalG. Baynam (Author/Creator) - King Edward Memorial HospitalC. Dommering (Author/Creator) - Amsterdam UMC Location Vrije Universiteit AmsterdamC. Eng (Author/Creator) - Case Western Reserve UniversityS.B. Gruber (Author/Creator) - University of MichiganH. Grönberg (Author/Creator) - Karolinska InstitutetR. Harvima (Author/Creator) - Kuopio University HospitalR. Herva (Author/Creator) - Oulu University HospitalM. Hietala (Author/Creator) - Turku University HospitalM. Kujala (Author/Creator) - Helsinki University HospitalH. Kääriäinen (Author/Creator) - University of TurkuL. Sunde (Author/Creator) - Aarhus University HospitalO. Vierimaa (Author/Creator) - Oulu University HospitalP.J. Pollard (Author/Creator) - Centre for Human GeneticsI.P.M. Tomlinson (Author/Creator)E. Björck (Author/Creator) - Karolinska InstitutetL.A. Aaltonen (Author/Creator) - University of HelsinkiV. Launonen (Author/Creator) - University of Helsinki
- Publication Details
- Cancer Genetics and Cytogenetics, Vol.183(2), pp.83-88
- Publisher
- Elsevier
- Identifiers
- 991005542123707891
- Copyright
- © 2008 Elsevier Inc.
- Murdoch Affiliation
- Murdoch University
- Language
- English
- Resource Type
- Journal article
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- Collaboration types
- Domestic collaboration
- International collaboration
- Citation topics
- 1 Clinical & Life Sciences
- 1.233 Pelvic & Renal Disorders
- 1.233.501 Renal Cell Carcinoma
- Web Of Science research areas
- Genetics & Heredity
- Oncology
- ESI research areas
- Clinical Medicine