No germline FH mutations in familial breast cancer patients

Maija Ht Kiuru, Rainer Lehtonen, Hannaleena Eerola, Kristiina Aittomäki, Carl Blomqvist, Heli Nevanlinna, Lauri A. Aaltonen, Virpi Launonen

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

Fumarate hydratase (FH) was recently identified as the predisposing gene for a tumor predisposition syndrome, hereditary leiomyomatosis and renal cell cancer (HLRCC) (MIM 605839). In HLRCC, individuals with a germline heterozygous mutation in the FH gene typically develop benign leiomyomas of the skin and the uterus (fibroids, myomas). In a subset of the families, predisposition to renal cell carcinoma and uterine leiomyosarcoma occurs. Other malignancies including breast cancer have also been detected in patients with a germline FH mutation. To examine whether FH could be involved in predisposition to breast cancer, we analyzed germline FH mutations from 85 Finnish breast cancer patients. Most of the cases were selected based on positive family or personal history for malignancies associated with HLRCC. No mutations were found. These results show that FH is not a major predisposing gene for familial breast cancer.

Original languageEnglish (US)
Pages (from-to)506-509
Number of pages4
JournalEuropean Journal of Human Genetics
Volume13
Issue number4
DOIs
StatePublished - Apr 2005
Externally publishedYes

Fingerprint

Fumarate Hydratase
Mutation
Leiomyoma
Breast Neoplasms
Genes
Neoplasms
Myoma
Leiomyosarcoma
Germ-Line Mutation
Renal Cell Carcinoma
Familial Breast Cancer
Skin

Keywords

  • Breast cancer
  • FH
  • Fumarase
  • Fumarate hydratase
  • Leiomyomas
  • Renal cancer
  • Sarcoma

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Kiuru, M. H., Lehtonen, R., Eerola, H., Aittomäki, K., Blomqvist, C., Nevanlinna, H., ... Launonen, V. (2005). No germline FH mutations in familial breast cancer patients. European Journal of Human Genetics, 13(4), 506-509. https://doi.org/10.1038/sj.ejhg.5201326

No germline FH mutations in familial breast cancer patients. / Kiuru, Maija Ht; Lehtonen, Rainer; Eerola, Hannaleena; Aittomäki, Kristiina; Blomqvist, Carl; Nevanlinna, Heli; Aaltonen, Lauri A.; Launonen, Virpi.

In: European Journal of Human Genetics, Vol. 13, No. 4, 04.2005, p. 506-509.

Research output: Contribution to journalArticle

Kiuru, MH, Lehtonen, R, Eerola, H, Aittomäki, K, Blomqvist, C, Nevanlinna, H, Aaltonen, LA & Launonen, V 2005, 'No germline FH mutations in familial breast cancer patients', European Journal of Human Genetics, vol. 13, no. 4, pp. 506-509. https://doi.org/10.1038/sj.ejhg.5201326
Kiuru MH, Lehtonen R, Eerola H, Aittomäki K, Blomqvist C, Nevanlinna H et al. No germline FH mutations in familial breast cancer patients. European Journal of Human Genetics. 2005 Apr;13(4):506-509. https://doi.org/10.1038/sj.ejhg.5201326
Kiuru, Maija Ht ; Lehtonen, Rainer ; Eerola, Hannaleena ; Aittomäki, Kristiina ; Blomqvist, Carl ; Nevanlinna, Heli ; Aaltonen, Lauri A. ; Launonen, Virpi. / No germline FH mutations in familial breast cancer patients. In: European Journal of Human Genetics. 2005 ; Vol. 13, No. 4. pp. 506-509.
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