Strong family history of uterine leiomyomatosis warrants fumarate hydratase mutation screening

Human Reproduction

Volumn 27, Issue 6, 2012, Pages 1865-1869

  Tolvanen, Jaana ^a   Uimari, Outi ^b   Ryynnen, Markku ^b   Aaltonen, Lauri A ^a   Vahteristo, Pia ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

^b OULU UNIVERSITY HOSPITAL   (Finland)

Author keywords

Fumarate hydratase (FH); Hereditary leiomyomatosis and renal cell cancer (HLRCC); Mutation screening; Tumor predisposition syndrome; Uterine leiomyoma

Indexed keywords

FUMARATE HYDRATASE;

ADULT; ARTICLE; CLINICAL ARTICLE; EARLY DIAGNOSIS; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GERM LINE; GYNECOLOGIST; HUMAN; LEIOMYOMATOSIS; MULTIPLE CANCER;

EID: 84861533933     PISSN: 02681161     EISSN: 14602350     Source Type: Journal    
DOI: 10.1093/humrep/des105     Document Type: Article

References (13)

1. Alam NA, Barclay E, Rowan AJ, Tyrer JP, Calonje E, Manek S, Kelsell D, Leigh I, Olpin S, Tomlinson IP. Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndrome. Arch Dermatol 2005;141:199-206.
2. Garg K, Tickoo SK, Soslow RA, Reuter VE. Morphologic features of uterine leiomyomas associated with hereditary leiomyomatosis and renal cell carcinoma syndrome: a case report. Am J Surg Pathol 2011; 35:1235-1237.
3. Launonen V, Vierimaa O, Kiuru M, Isola J, Roth S, Pukkala E, Sistonen P, Herva R, Aaltonen LA. Inherited susceptibility to uterine leiomyomas and renal cell cancer. Proc Natl Acad Sci USA 2001;98:3387-3392.
4. Lehtonen HJ. Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics. Fam Cancer 2011;10:397-411.
5. Lehtonen HJ, Kiuru M, Ylisaukko-Oja SK, Salovaara R, Herva R, Koivisto PA, Vierimaa O, Aittomäki K, Pukkala E, Launonen V et al. Increased risk of cancer in patients with fumarate hydratase gerrmline mutation. J Med Genet 2006;43:523-526.
6. Okolo SO, Gentry CC, Perrett CW, Maclean AB. Familial prevalence of uterine fibroids is associated with distinct clinical and molecular features. Hum Reprod 2005;20:2321-2324.
7. Sato F, Mori M, Nishi M, Kudo R, Miyake H. Familial aggregation of uterine myomas in Japanese women. J Epidemiol 2002;12:249-253.
8. Snieder H, MacGregor AJ, Spector TD. Genes control the cessation of a woman's reproductive life: a twin study of hysterectomy and age at menopause. J Clin Endocrinol Metab 1998;83:1875-1880.
9. Stewart EA. Uterine fibroids. Lancet 2001;357:293-298.
10. Tomlinson IP, Alam NA, Rowan AJ, Barclay E, Jaeger EE, Kelsell D, Leigh I, Gorman P, Lamlum H, Rahman S 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.
11. Toro JR, Nickerson ML, Wei MH, Warren MB, Glenn GM, Turner ML, Stewart L, Duray P, Tourre O, Sharma N 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.
12. Vahteristo P, Koski TA, Näätsaari L, Kiuru M, Karhu A, Herva R, Sallinen SL, Vierimaa O, Bjö rk E, Richard S et al. No evidence for a genetic modifier for renal cancer risk in HLRCC syndrome. Fam Cancer 2010;9:245-251.
13. Vikhlyaeva EM, Khodzhaeva ZS, Fantschenko ND. Familial predisposition to uterine leiomyomas. Int J Gynaecol Obstet 1995;51:127-131.