Fumarate hydratase variant prevalence and manifestations among individuals receiving germline testing

Cancer ◽  
2021 ◽  
Author(s):  
Eric Lu ◽  
Kathryn E. Hatchell ◽  
Sarah M. Nielsen ◽  
Edward D. Esplin ◽  
Karen Ouyang ◽  
...  
Keyword(s):  
Fumarate Hydratase ◽  
Germline Testing

The Preparation and Function Identification of a Novel Anti-Fumarate Hydratase Antibody

2013 ◽  
Vol 29 (1) ◽  
pp. 46
Author(s):  
Meihong FU ◽  
Liang LE ◽  
Zhong CHENG ◽  
Yong XIE ◽  
Hai GAO ◽  
...  
Keyword(s):  
Fumarate Hydratase ◽  
Function Identification ◽  
And Function

Perinatal undernourishment provokes long-lasting alterations of clusterin and fumarate hydratase expression in the rat nucleus accumbens

2021 ◽  
pp. 1-5
Author(s):  
Carmen Rodríguez-Rivera ◽  
Carmen González-Martín ◽  
Elisa Fernández-Millán ◽  
Carmen Álvarez ◽  
Fernando Escrivá ◽  
...  
Keyword(s):  
Nucleus Accumbens ◽  
Fumarate Hydratase ◽  
Rat Nucleus Accumbens

scholarly journals Germline Whole-Gene Deletion of FH Diagnosed from Tumor Profiling

2021 ◽  
Vol 22 (15) ◽  
pp. 7962
Author(s):  
Arisa Ueki ◽  
Kokichi Sugano ◽  
Kumiko Misu ◽  
Eriko Aimono ◽  
Kohei Nakamura ◽  
...  
Keyword(s):  
Fumarate Hydratase ◽  
European Origin ◽  
Pathogenic Variants ◽  
Multiple Metastases ◽  
History Of ◽  
Genetic Deletion ◽  
Aggressive Clinical Course ◽  
Written Informed Consent ◽  
Tumor Profiling

Hereditary leiomyomatosis and renal cell carcinoma (HL (RCC)) entails cutaneous and uterine leiomyomatosis with aggressive type 2 papillary RCC-like histology. HLRCC is caused by pathogenic variants in the FH gene, which encodes fumarate hydratase (FH). Here, we describe an episode of young-onset RCC caused by a genomic FH deletion that was diagnosed via clinical sequencing. A 35-year-old woman was diagnosed with RCC and multiple metastases: histopathological analyses supported a diagnosis of FH-deficient RCC. Although the patient had neither skin tumors nor a family history of HLRCC, an aggressive clinical course at her age and pathological diagnosis of FH-deficient RCC suggested a germline FH variant. After counseling, the patient provided written informed consent for germline genetic testing. She was simultaneously subjected to paired tumor profiling tests targeting the exome to identify a therapeutic target. Although conventional germline sequencing did not detect FH variants, exome sequencing revealed a heterozygous germline FH deletion. As such, paired tumor profiling, not conventional sequencing, was required to identify this genetic deletion. RCC caused by a germline FH deletion has hitherto not been described in Japan, and the FH deletion detected in this patient was presumed to be of maternal European origin. Although the genotype-phenotype correlation in HLRCC-related tumors is unclear, the patient’s family was advised to undergo genetic counseling to consider additional RCC screening.

Conventional renal cancer in a patient with fumarate hydratase mutation

2007 ◽  
Vol 38 (5) ◽  
pp. 793-796 ◽  
Author(s):  
Heli J. Lehtonen ◽  
Ignacio Blanco ◽  
Jose M. Piulats ◽  
Riitta Herva ◽  
Virpi Launonen ◽  
...  
Keyword(s):  
Renal Cancer ◽  
Fumarate Hydratase

scholarly journals Germline mutations in fumarate hydratase (FH) do not predispose to prostate cancer

2003 ◽  
Vol 6 (1) ◽  
pp. 12-14 ◽  
Author(s):  
S Bevan ◽  
◽  
S M Edwards ◽  
A Ardern Jones ◽  
A Dowe ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Fumarate Hydratase ◽  
Germline Mutations

Response to systemic therapy in fumarate hydratase–deficient renal cell carcinoma

2021 ◽  
Vol 151 ◽  
pp. 106-114
Author(s):  
Lucia Carril-Ajuria ◽  
Emeline Colomba ◽  
Luigi Cerbone ◽  
Carmen Romero-Ferreiro ◽  
Laurence Crouzet ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Systemic Therapy ◽  
Renal Cell ◽  
Fumarate Hydratase

scholarly journals Implementation of an embedded in‐clinic genetic testing station to optimize germline testing for patients with pancreatic adenocarcinoma

2021 ◽  
Author(s):  
Evan J. Walker ◽  
Dena Goldberg ◽  
Kelly M Gordon ◽  
Christina Pedley ◽  
Julia Carnevale ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Pancreatic Adenocarcinoma ◽  
Germline Testing
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