Estimation of the carrier frequency of fumarate hydratase alterations and implications for kidney cancer risk in hereditary leiomyomatosis and renal cancer.

Shuch, Brian; Li, Shantao; Risch, Harvey; Bindra, Ranjit S; McGillivray, Patrick D; Gerstein, Mark

Shuch, Brian; Li, Shantao; Risch, Harvey; Bindra, Ranjit S; McGillivray, Patrick D; Gerstein, Mark.

Affiliation

Shuch B; Department of Urology and Radiology and Biomedical Imaging, Yale School of Medicine, New Haven, Connecticut.
Li S; Department of Urology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.
Risch H; Program in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut.
Bindra RS; Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, Connecticut.
McGillivray PD; Department of Computer Science, Yale University, New Haven, Connecticut.
Gerstein M; Division of Chronic Disease Epidemiology, Yale School of Public Health, New Haven, Connecticut.

Cancer ; 126(16): 3657-3666, 2020 08 15.

Article in En | MEDLINE | ID: mdl-32413184

Subject(s)

Fumarate Hydratase/genetics; Genetic Predisposition to Disease; Kidney Neoplasms/genetics; Leiomyomatosis/genetics; Neoplastic Syndromes, Hereditary/genetics; Skin Neoplasms/genetics; Uterine Neoplasms/genetics; Adult; Exome/genetics; Female; Gene Frequency; Germ-Line Mutation/genetics; Heterozygote; Humans; Kidney/metabolism; Kidney/pathology; Kidney Neoplasms/epidemiology; Kidney Neoplasms/etiology; Kidney Neoplasms/pathology; Leiomyomatosis/complications; Leiomyomatosis/epidemiology; Leiomyomatosis/pathology; Male; Middle Aged; Neoplastic Syndromes, Hereditary/complications; Neoplastic Syndromes, Hereditary/epidemiology; Neoplastic Syndromes, Hereditary/pathology; Risk Factors; Skin Neoplasms/complications; Skin Neoplasms/epidemiology; Skin Neoplasms/pathology; Uterine Neoplasms/complications; Uterine Neoplasms/epidemiology; Uterine Neoplasms/pathology

Key words

fumarate hydratase (FH); hereditary; hereditary leiomyomatosis and renal cancer (HLRCC); renal cell carcinoma

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Skin Neoplasms / Uterine Neoplasms / Neoplastic Syndromes, Hereditary / Leiomyomatosis / Genetic Predisposition to Disease / Fumarate Hydratase / Kidney Neoplasms Limits: Adult / Female / Humans / Male / Middle aged Language: En Journal: Cancer Year: 2020 Type: Article

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