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3 results on '"Hereditary leiomyomatosis and renal cell cancer"'

1. Fumarate hydratase variant prevalence and manifestations among individuals receiving germline testing

Author

Lu, Eric, Hatchell, Kathryn E, Nielsen, Sarah M, Esplin, Edward D, Ouyang, Karen, Nykamp, Keith, Zavoshi, Shirin, Li, Shantao, Zhang, Liying, Wilde, Blake R, Christofk, Heather R, Boutros, Paul C, and Shuch, Brian

Subjects
Health Services and Systems, Biomedical and Clinical Sciences, Health Sciences, Oncology and Carcinogenesis, Clinical Research, Genetic Testing, Prevention, Kidney Disease, Cancer, Genetics, Rare Diseases, 2.1 Biological and endogenous factors, Carcinoma, Renal Cell, Female, Fumarate Hydratase, Germ Cells, Germ-Line Mutation, Humans, Kidney Neoplasms, Leiomyomatosis, Neoplastic Syndromes, Hereditary, Prevalence, Skin Neoplasms, Uterine Neoplasms, fumarate hydratase, genetic testing, hereditary leiomyomatosis and renal cell cancer, kidney neoplasms, Public Health and Health Services, Oncology & Carcinogenesis, Oncology and carcinogenesis, Public health
Abstract

BackgroundGermline variants in fumarate hydratase (FH) are associated with autosomal dominant (AD) hereditary leiomyomatosis and renal cell cancer (HLRCC) and autosomal recessive (AR) fumarase deficiency (FMRD). The prevalence and cancer penetrance across different FH variants remain unclear.MethodsA database containing 120,061 records from individuals undergoing cancer germline testing was obtained. FH variants were classified into 3 categories: AD HLRCC variants, AR FMRD variants, and variants of unknown significance (VUSs). Individuals with variants from these categories were compared with those with negative genetic testing.ResultsFH variants were detected in 1.3% of individuals (AD HLRCC, 0.3%; AR FMRD, 0.4%; VUS, 0.6%). The rate of AD HLRCC variants discovered among reportedly asymptomatic individuals without a clear indication for HLRCC testing was 1 in 2668 (0.04%). In comparison with those with negative genetic testing, the renal cell carcinoma (RCC) prevalence was elevated with AD HLRCC variants (17.0% vs 4.5%; P

Published
2022

2. Fumarate hydratase variant prevalence and manifestations among individuals receiving germline testing

Author

Eric Lu, Shantao Li, Kathryn E. Hatchell, Heather R. Christofk, Blake R. Wilde, Brian Shuch, Keith Nykamp, Shirin Zavoshi, Liying Zhang, Sarah M. Nielsen, Karen Ouyang, Edward D. Esplin, and Paul C. Boutros

Subjects
Oncology, Cancer Research, Kidney Disease, Skin Neoplasms, Fumarase deficiency, urologic and male genital diseases, Germline, Fumarate Hydratase, Renal cell carcinoma, Prevalence, kidney neoplasms, 2.1 Biological and endogenous factors, Aetiology, Cancer, education.field_of_study, medicine.diagnostic_test, Penetrance, Kidney Neoplasms, Hereditary, Uterine Neoplasms, Public Health and Health Services, Female, hereditary leiomyomatosis and renal cell cancer, fumarate hydratase, medicine.medical_specialty, Oncology and Carcinogenesis, Population, Article, genetic testing, Cancer syndrome, Clinical Research, Neoplastic Syndromes, Hereditary, Leiomyomatosis, Internal medicine, Genetics, medicine, Humans, Neoplastic Syndromes, Oncology & Carcinogenesis, education, Carcinoma, Renal Cell, Germ-Line Mutation, Genetic testing, business.industry, Carcinoma, Renal Cell, medicine.disease, Germ Cells, business
Abstract

BackgroundGermline variants in fumarate hydratase (FH) are associated with autosomal dominant (AD) hereditary leiomyomatosis and renal cell cancer (HLRCC) and autosomal recessive (AR) fumarase deficiency (FMRD). The prevalence and cancer penetrance across different FH variants remain unclear.MethodsA database containing 120,061 records from individuals undergoing cancer germline testing was obtained. FH variants were classified into 3 categories: AD HLRCC variants, AR FMRD variants, and variants of unknown significance (VUSs). Individuals with variants from these categories were compared with those with negative genetic testing.ResultsFH variants were detected in 1.3% of individuals (AD HLRCC, 0.3%; AR FMRD, 0.4%; VUS, 0.6%). The rate of AD HLRCC variants discovered among reportedly asymptomatic individuals without a clear indication for HLRCC testing was 1 in 2668 (0.04%). In comparison with those with negative genetic testing, the renal cell carcinoma (RCC) prevalence was elevated with AD HLRCC variants (17.0% vs 4.5%; P&nbsp

Published
2021
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3. Complexities in estimating the true risk of hereditary leiomyomatosis and renal cell carcinoma and the development of kidney cancer.

Author

Ball MW and Ricketts CJ

Subjects
Carcinoma, Renal Cell complications, Carcinoma, Renal Cell pathology, Genetic Predisposition to Disease, Humans, Kidney Neoplasms etiology, Kidney Neoplasms pathology, Leiomyomatosis complications, Leiomyomatosis pathology, Neoplastic Syndromes, Hereditary complications, Neoplastic Syndromes, Hereditary pathology, Skin Neoplasms complications, Skin Neoplasms pathology, Uterine Neoplasms complications, Uterine Neoplasms pathology, Carcinoma, Renal Cell genetics, Fumarate Hydratase genetics, Kidney Neoplasms genetics, Leiomyomatosis genetics, Neoplastic Syndromes, Hereditary genetics, Skin Neoplasms genetics, Uterine Neoplasms genetics
Published
2020
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