Article
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.
Nature genetics - 1 Apr 2002
Tomlinson Ian P M, Alam N Afrina, Rowan Andrew J, Barclay Ella, Jaeger Emma E M, Kelsell David, Leigh Irene, Gorman Patricia, Lamlum Hanan, Rahman Shamima, Roylance Rebecca R, Olpin Simon, Bevan Stephen, Barker Karen, Hearle Nicholas, Houlston Richard S, Kiuru Maija, Lehtonen Rainer, Karhu Auli, Vilkki Susa, Laiho Päivi, Eklund Carita, Vierimaa Outi, Aittomäki Kristiina, Hietala Marja, Sistonen Pertti, Paetau Anders, Salovaara Reijo, Herva Riitta, Launonen Virpi, Aaltonen Lauri A
Abstract excerpt
Uterine leiomyomata (fibroids) are common and clinically important tumors, but little is known about their etiology and pathogenesis. We previously mapped a gene that predisposes to multiple fibroids, cutaneous leiomyomata and renal cell carcinoma to chromosome 1q42.3-q43 (refs 4-6). Here we show, through a combination of mapping critical recombinants, identifying individuals with germline mutations and screening...
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