Publications:

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Rare variant in the fumarate hydratase gene found in patients with clinical features of hereditary leiomyomatosis and renal cell cancer (HLRCC): A case series.

Clinical Case Reports

Franke, Keith K; Vagher, Jennie J; Boyle, Julie J; Hall, April A; Smith-Simmer, Kelcy K

Publication Date: 2022-03

Variant appearance in text: FH: H318Y

PubMed Link: 35251648

Variant Present in the following documents:

• Main text
• CCR3-10-e05513.pdf

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Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology

Li, Na N; Wang, Jiahong J; Zhan, Xianquan X

Publication Date: 2021

Variant appearance in text: FH: 952C>T; H318Y

PubMed Link: 34887858

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

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Letter to the Editor from Berthon: "Cardiac Myxoma Caused by Fumarate Hydratase Gene Deletion in Patient With Cortisol-Secreting Adrenocortical Adenoma".

The Journal Of Clinical Endocrinology And Metabolism

Berthon, Annabel A; Libe, Rossella R; Bertherat, Jérôme J; Stratakis, Constantine A CA

Publication Date: 2020-11-01

Variant appearance in text: FH: H318Y

PubMed Link: 32808982

Variant Present in the following documents:

• Main text

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Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Popp, Bernt B; Erber, Ramona R; Kraus, Cornelia C; Vasileiou, Georgia G; Hoyer, Juliane J; Burghaus, Stefanie S; Hartmann, Arndt A; Beckmann, Matthias W MW; Reis, André A; Agaimy, Abbas A

Publication Date: 2020-11

Variant appearance in text: FH: 952C>T; His318Tyr

PubMed Link: 32612247

Variant Present in the following documents:

• Main text
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 5
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3
• 41379_2020_Article_596.pdf
• 41379_2020_596_MOESM3_ESM.pdf
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 4

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: FH: 952C>T; H318Y

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: FH: 952C>T; H318Y

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell

Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD

Publication Date: 2018-05-14

Variant appearance in text: FH: H318Y

PubMed Link: 29657128

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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Biochemical Characterization of Two Clinically-Relevant Human Fumarase Variants Defective for Oligomerization.

The Open Biochemistry Journal

Bulku, Artemisa A; Weaver, Todd M TM; Berkmen, Melanie B MB

Publication Date: 2018

Variant appearance in text: FH: H318Y

PubMed Link: 29456767

Variant Present in the following documents:

• Main text
• TOBIOCJ-12-1.pdf

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The emerging role and targetability of the TCA cycle in cancer metabolism.

Protein & Cell

Anderson, Nicole M NM; Mucka, Patrick P; Kern, Joseph G JG; Feng, Hui H

Publication Date: 2018-02

Variant appearance in text: FH: 952C>T

PubMed Link: 28748451

Variant Present in the following documents:

• Main text
• 13238_2017_Article_451.pdf

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: FH: 952C>T; His318Tyr

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Melanoma and basal cell carcinoma in the hereditary leiomyomatosis and renal cell cancer syndrome. An expansion of the oncologic spectrum.

Journal Of Dermatological Case Reports

Sommer, Lacy L LL; Schnur, Rhonda E RE; Heymann, Warren R WR

Publication Date: 2016-11-30

Variant appearance in text: FH: 952C>T; H318Y

PubMed Link: 28400895

Variant Present in the following documents:

• Main text

View BVdb publication page

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Tubulocystic Carcinoma of the Kidney With Poorly Differentiated Foci: A Frequent Morphologic Pattern of Fumarate Hydratase-deficient Renal Cell Carcinoma.

The American Journal Of Surgical Pathology

Smith, Steven C SC; Trpkov, Kiril K; Chen, Ying-Bei YB; Mehra, Rohit R; Sirohi, Deepika D; Ohe, Chisato C; Cani, Andi K AK; Hovelson, Daniel H DH; Omata, Kei K; McHugh, Jonathan B JB; Jochum, Wolfram W; Colecchia, Maurizio M; Amin, Mitual M; Divatia, Mukul K MK; Hes, Ondřej O; Menon, Santosh S; Werneck da Cunha, Isabela I; Tripodi, Sergio S; Brimo, Fadi F; Gill, Anthony J AJ; Osunkoya, Adeboye O AO; Magi-Galluzzi, Cristina C; Sibony, Mathilde M; Williamson, Sean R SR; Nesi, Gabriella G; Picken, Maria M MM; Maclean, Fiona F; Agaimy, Abbas A; Cheng, Liang L; Epstein, Jonathan I JI; Reuter, Victor E VE; Tickoo, Satish K SK; Tomlins, Scott A SA; Amin, Mahul B MB

Publication Date: 2016-11

Variant appearance in text: FH: H318Y

PubMed Link: 27635946

Variant Present in the following documents:

• Main text

View BVdb publication page

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Fine mapping of the uterine leiomyoma locus on 1q43 close to a lncRNA in the RGS7-FH interval.

Endocrine-Related Cancer

Aissani, Brahim B; Zhang, Kui K; Mensenkamp, Arjen R AR; Menko, Fred H FH; Wiener, Howard W HW

Publication Date: 2015-08

Variant appearance in text: FH: 952C>T; His318Tyr

PubMed Link: 26113603

Variant Present in the following documents:

• Main text
• ERC150208.pdf

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Structural basis of fumarate hydratase deficiency.

Journal Of Inherited Metabolic Disease

Picaud, Sarah S; Kavanagh, Kathryn L KL; Yue, Wyatt W WW; Lee, Wen Hwa WH; Muller-Knapp, Susanne S; Gileadi, Opher O; Sacchettini, James J; Oppermann, Udo U

Publication Date: 2011-06

Variant appearance in text: FH: 952C>T; H318Y

PubMed Link: 21445611

Variant Present in the following documents:

• Main text
• 10545_2011_Article_9294.pdf

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The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency.

Bmc Medical Genetics

Bayley, Jean-Pierre JP; Launonen, Virpi V; Tomlinson, Ian P M IP

Publication Date: 2008-03-25

Variant appearance in text: FH: His318Tyr

PubMed Link: 18366737

Variant Present in the following documents:

• 1471-2350-9-20.pdf

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