Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer.

doi:10.1016/j.cancergencyto.2008.01.010

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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 - 1 Jun 2008

Ahvenainen Taru, Lehtonen Heli J, Lehtonen Rainer, Vahteristo Pia, Aittomäki Kristiina, Baynam Gareth, Dommering Charlotte, Eng Charis, Gruber Stephen B, Grönberg Henrik, Harvima Rauno, Herva Riitta, Hietala Marja, Kujala Minna, Kääriäinen Helena, Sunde Lone, Vierimaa Outi, Pollard Patrick J, Tomlinson Ian P M, Björck Erik, Aaltonen Lauri A, Launonen Virpi

Abstract excerpt

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,...

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PMID: 18503824
DOI: 10.1016/j.cancergencyto.2008.01.010

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