No germline FH mutations in familial breast cancer patients

European Journal of Human Genetics

Volumn 13, Issue 4, 2005, Pages 506-509

  Kiuru, Maija ^a,b   Lehtonen, Rainer ^a,b   Eerola, Hannaleena ^b   Aittomäki, Kristiina ^a   Blomqvist, Carl ^b   Nevanlinna, Heli ^b   Aaltonen, Lauri A ^a   Launonen, Virpi ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

^b HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

Author keywords

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

Indexed keywords

FUMARATE HYDRATASE;

ANAMNESIS; ARTICLE; BENIGN TUMOR; BREAST CANCER; BREAST CARCINOGENESIS; CANCER SUSCEPTIBILITY; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; FAMILIAL CANCER; FAMILY HISTORY; FINLAND; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GERM LINE; HETEROZYGOSITY; HUMAN; KIDNEY CARCINOMA; LEIOMYOMATOSIS; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SKIN TUMOR; UTERUS MYOMA;

BREAST NEOPLASMS; FEMALE; FUMARATE HYDRATASE; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS;

EID: 17144392612     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201326     Document Type: Article

References (24)

1. Launonen V, Vierimaa O, Kiuru M et al: Inherited susceptibility to uterine leiomyomas and renal cell cancer. Proc Natl Acad Sci USA 2001; 98: 3387-3392.
2. Tomlinson IP, Alam NA, Rowan AJ et al: Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet 2002; 30 406-410.
3. Alam NA, Bevan S, Churchman M et al: Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43. Am J Hum Genet 2001; 68: 1264-1269.
4. Alam NA, Rowan AJ, Wortham NC et al: Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. Hum Mol Genet 2003; 12: 1241-1252.
5. Kiuru M, Launonen V, Hietala M et al: Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology. Am J Pathol 2001; 159: 825-829.
6. Toro JR, Nickerson ML, Wei MH et al: Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. Am J Hum Genet 2003; 73: 95-106.
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: 4554-4557.
8. Martinez-Mir A, Glaser B, Chuang GS et al: Germline fumarate hydratase mutations in families with multiple cutaneous leiomyomata. J Invest Dermatol 2003; 121: 741-744.
9. Chuang GS, Martinez-Mir A, Horev L et al: Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata. Am J Hum Genet 2003; 73: 577.
10. Launonen V, Kiuru M, Herva R, Aaltonen LA: Part 4: Cancer, Chapter 41: Renal Carcinoma: Hereditary leiomyomatosis and renal cell cancer (HLRCC): The Metabolic and Molecular Bases of Inherited Disease New York: The McGraw-Hill Companies, 2004.
11. Bevan S, Edwards SM, Ardern Jones A et al: Germline mutations in fumarate hydratase (FH) do not predispose to prostate cancer. Prostate Cancer Prostatic Dis 2003; 6: 12-14.
12. Lehtonen R, Kiuru M, Rokman A et al: No fumarate hydratase (FH) mutations in hereditary prostate cancer. J Med Genet 2003; 40: e19.
13. Valeri A, Drelon E, Paiss T et al: Genetic analysis of familial prostatic cancer: localization of a gene predisposing to prostatic cancer (PCaP) on chromosome 1q 42.2-43. Prog Urol 1999; 9: 680-688.
14. Vahteristo P, Eerola H, Tamminen A, Blomqvist C, Nevanlinna H: A probability model for predicting BRCA1 and BRCA2 mutations in breast and breast-ovarian cancer families. Br J Cancer 2001; 84: 704-708.
15. Ford D, Easton DF, Stratton M et al: Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 1998; 62: 676-689.
16. Kainu T, Juo SH, Desper R et al: Somatic deletions in hereditary breast cancers implicate 13q21 as a putative novel breast cancer susceptibility locus. Proc Natl Acad Sci USA 2000; 97: 9603-9608.
17. Huusko P, Juo SH, Gillanders E et al: Genome-wide scanning for linkage in Finnish breast cancer families. Eur J Hum Genet 2004; 12: 98-104.
18. Seitz S, Rohde K, Bender E et al: Strong indication for a breast cancer susceptibility gene on chromosome 8p12-p22: linkage analysis in German breast cancer families. Oncogene 1997; 14: 741-743.
19. Zuppan P, Hall JM, Lee MK, Ponglikitmongkol M, King MC: Possible linkage of the estrogen receptor gene to breast cancer in a family with late-onset disease. Am J Hum Genet 1991; 48: 1065-1068.
20. Vahteristo P, Tamminen A, Karvinen P et al: p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition. Cancer Res 2001; 61: 5718-5722.
21. Eerola H, Blomqvist C, Pukkala E, Pyrhonen S, Nevanlinna H: Familial breast cancer in southern Finland: how prevalent are breast cancer families and can we trust the family history reported by patients? Eur J Cancer 2000; 36: 1143-1148.
22. Vehmanen P, Friedman LS, Eerola H et al: Low proportion of BRCA1 and BRCA2 mutations in Finnish breast cancer families: evidence for additional susceptibility genes. Hum Mol Genet 1997; 6: 2309-2315.
23. Lehtonen R, Kiuru M, Vanharanta S et al: Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors. Am J Pathol 2004; 164 17-22.
24. Xiao W, Oefner PJ: Denaturing high-performance liquid chromatography: a review. Hum Mutat 2001; 17: 439-474.