Publications:

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Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.

Cancer Science

Kage, Hidenori H; Shinozaki-Ushiku, Aya A; Ishigaki, Kazunaga K; Sato, Yusuke Y; Tanabe, Masahiko M; Tanaka, Shota S; Tanikawa, Michihiro M; Watanabe, Kousuke K; Kato, Shingo S; Akagi, Kiwamu K; Uchino, Keita K; Mitani, Kinuko K; Takahashi, Shunji S; Miura, Yuji Y; Ikeda, Sadakatsu S; Kojima, Yasushi Y; Watanabe, Kiyotaka K; Mochizuki, Hitoshi H; Yamaguchi, Hironori H; Kawazoe, Yoshimasa Y; Kashiwabara, Kosuke K; Kohsaka, Shinji S; Tatsuno, Kenji K; Ushiku, Tetsuo T; Ohe, Kazuhiko K; Yatomi, Yutaka Y; Seto, Yasuyuki Y; Aburatani, Hiroyuki H; Mano, Hiroyuki H; Miyagawa, Kiyoshi K; Oda, Katsutoshi K

Publication Date: 2023-01-05

Variant appearance in text: FH: 1189G>A; G397R

PubMed Link: 36601953

Variant Present in the following documents:

• CAS-114-1710-s001.xlsx, sheet 1

View BVdb publication page

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Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients.

Genome Medicine

Ceyhan-Birsoy, Ozge O; Jayakumaran, Gowtham G; Kemel, Yelena Y; Misyura, Maksym M; Aypar, Umut U; Jairam, Sowmya S; Yang, Ciyu C; Li, Yirong Y; Mehta, Nikita N; Maio, Anna A; Arnold, Angela A; Salo-Mullen, Erin E; Sheehan, Margaret M; Syed, Aijazuddin A; Walsh, Michael M; Carlo, Maria M; Robson, Mark M; Offit, Kenneth K; Ladanyi, Marc M; Reis-Filho, Jorge S JS; Stadler, Zsofia K ZK; Zhang, Liying L; Latham, Alicia A; Zehir, Ahmet A; Mandelker, Diana D

Publication Date: 2022-08-15

Variant appearance in text: FH: Gly397Arg

PubMed Link: 35971132

Variant Present in the following documents:

• Main text
• 13073_2022_Article_1101.pdf

View BVdb publication page

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Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Bmc Medicine

Haverfield, Eden V EV; Esplin, Edward D ED; Aguilar, Sienna J SJ; Hatchell, Kathryn E KE; Ormond, Kelly E KE; Hanson-Kahn, Andrea A; Atwal, Paldeep S PS; Macklin-Mantia, Sarah S; Hines, Stephanie S; Sak, Caron W-M CW; Tucker, Steven S; Bleyl, Steven B SB; Hulick, Peter J PJ; Gordon, Ora K OK; Velsher, Lea L; Gu, Jessica Y J JYJ; Weissman, Scott M SM; Kruisselbrink, Teresa T; Abel, Christopher C; Kettles, Michele M; Slavotinek, Anne A; Mendelsohn, Bryce A BA; Green, Robert C RC; Aradhya, Swaroop S; Nussbaum, Robert L RL

Publication Date: 2021-08-18

Variant appearance in text: FH: 1189G>A; Gly397Arg

PubMed Link: 34404389

Variant Present in the following documents:

• 12916_2021_1999_MOESM2_ESM.pdf

View BVdb publication page

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Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification.

Blood

Martín Merinero, Hector H; Zhang, Yuzhou Y; Arjona, Emilia E; Del Angel, Guillermo G; Goodfellow, Renee R; Gomez-Rubio, Elena E; Ji, Rui-Ru RR; Michelena, Malkoa M; Smith, Richard J H RJH; Rodríguez de Córdoba, Santiago S

Publication Date: 2021-12-02

Variant appearance in text: FH: 1189G>A; G397R

PubMed Link: 34189567

Variant Present in the following documents:

• Main text
• bloodBLD2021012037-suppl1.pdf
• 10.1182-2021012037_bloodbld2021012037-suppl1.pdf

View BVdb publication page

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: FH: 1189G>A; Gly397Arg; rs863224007

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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A novel mutation of congenital nephrotic syndrome in a Slovenian child eventually receiving a renal transplant.

Croatian Medical Journal

Golob, Valentina V; Nosan, Gregor G; Bertok, Sara S; Frelih, Maja M; Boštjanči, Emanuela E; Rus, Rina R

Publication Date: 2021-04-30

Variant appearance in text: FH: 1189G>A; Gly397Arg

PubMed Link: 33938658

Variant Present in the following documents:

• Main text

View BVdb publication page

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Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization.

Cancers

Sánchez-Heras, A Beatriz AB; Castillejo, Adela A; García-Díaz, Juan D JD; Robledo, Mercedes M; Teulé, Alexandre A; Sánchez, Rosario R; Zúñiga, Ángel Á; Lastra, Enrique E; Durán, Mercedes M; Llort, Gemma G; Yagüe, Carmen C; Ramon Y Cajal, Teresa T; López San Martin, Consol C; López-Fernández, Adrià A; Balmaña, Judith J; Robles, Luis L; Mesa-Latorre, José M JM; Chirivella, Isabel I; Fonfria, María M; Perea Ibañez, Raquel R; Castillejo, M Isabel MI; Escandell, Inés I; Gomez, Luis L; Berbel, Pere P; Soto, Jose Luis JL

Publication Date: 2020-11-05

Variant appearance in text: FH: 1189G>A

PubMed Link: 33167498

Variant Present in the following documents:

• Main text
• cancers-12-03277.pdf

View BVdb publication page

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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: 1189G>A; Gly397Arg; rs863224007

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 8
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 5
• 41379_2020_596_MOESM3_ESM.pdf
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 7
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

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Renal cell carcinoma in young FH mutation carriers: case series and review of the literature.

Familial Cancer

Hol, J A JA; Jongmans, M C J MCJ; Littooij, A S AS; de Krijger, R R RR; Kuiper, R P RP; van Harssel, J J T JJT; Mensenkamp, A A; Simons, M M; Tytgat, G A M GAM; van den Heuvel-Eibrink, M M MM; van Grotel, M M

Publication Date: 2020-01

Variant appearance in text: FH: 1189G>A; Gly397Arg

PubMed Link: 31792767

Variant Present in the following documents:

• Main text
• 10689_2019_Article_155.pdf

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: 1189G>A; G397R

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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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: 1189G>A

PubMed Link: 28748451

Variant Present in the following documents:

• Main text
• 13238_2017_Article_451.pdf

View BVdb publication page

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Fumarate is an epigenetic modifier that elicits epithelial-to-mesenchymal transition.

Nature

Sciacovelli, Marco M; Gonçalves, Emanuel E; Johnson, Timothy Isaac TI; Zecchini, Vincent Roberto VR; da Costa, Ana Sofia Henriques AS; Gaude, Edoardo E; Drubbel, Alizee Vercauteren AV; Theobald, Sebastian Julian SJ; Abbo, Sandra Riekje SR; Tran, Maxine Gia Binh MG; Rajeeve, Vinothini V; Cardaci, Simone S; Foster, Sarah S; Yun, Haiyang H; Cutillas, Pedro P; Warren, Anne A; Gnanapragasam, Vincent V; Gottlieb, Eyal E; Franze, Kristian K; Huntly, Brian B; Maher, Eamonn Richard ER; Maxwell, Patrick Henry PH; Saez-Rodriguez, Julio J; Frezza, Christian C

Publication Date: 2016-08-31

Variant appearance in text: FH: 1189G>A

PubMed Link: 27580029

Variant Present in the following documents:

• Main text
• emss-69628.pdf

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: 1189G>A; Gly397Arg

PubMed Link: 26113603

Variant Present in the following documents:

• Main text

View BVdb publication page

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Recurrent chromosomal gains and heterogeneous driver mutations characterise papillary renal cancer evolution.

Nature Communications

Kovac, Michal M; Navas, Carolina C; Horswell, Stuart S; Salm, Max M; Bardella, Chiara C; Rowan, Andrew A; Stares, Mark M; Castro-Giner, Francesc F; Fisher, Rosalie R; de Bruin, Elza C EC; Kovacova, Monika M; Gorman, Maggie M; Makino, Seiko S; Williams, Jennet J; Jaeger, Emma E; Jones, Angela A; Howarth, Kimberley K; Larkin, James J; Pickering, Lisa L; Gore, Martin M; Nicol, David L DL; Hazell, Steven S; Stamp, Gordon G; O'Brien, Tim T; Challacombe, Ben B; Matthews, Nik N; Phillimore, Benjamin B; Begum, Sharmin S; Rabinowitz, Adam A; Varela, Ignacio I; Chandra, Ashish A; Horsfield, Catherine C; Polson, Alexander A; Tran, Maxine M; Bhatt, Rupesh R; Terracciano, Luigi L; Eppenberger-Castori, Serenella S; Protheroe, Andrew A; Maher, Eamonn E; El Bahrawy, Mona M; Fleming, Stewart S; Ratcliffe, Peter P; Heinimann, Karl K; Swanton, Charles C; Tomlinson, Ian I

Publication Date: 2015-03-19

Variant appearance in text: FH: 1189G>A; Gly397Arg

PubMed Link: 25790038

Variant Present in the following documents:

• Main text
• ncomms7336.pdf
• ncomms7336-s1.pdf

View BVdb publication page

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Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cancer: recognition of the syndrome by pathologic features and the utility of detecting aberrant succination by immunohistochemistry.

The American Journal Of Surgical Pathology

Chen, Ying-Bei YB; Brannon, A Rose AR; Toubaji, Antoun A; Dudas, Maria E ME; Won, Helen H HH; Al-Ahmadie, Hikmat A HA; Fine, Samson W SW; Gopalan, Anuradha A; Frizzell, Norma N; Voss, Martin H MH; Russo, Paul P; Berger, Michael F MF; Tickoo, Satish K SK; Reuter, Victor E VE

Publication Date: 2014-05

Variant appearance in text: FH: 1189G>A; G397R

PubMed Link: 24441663

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 1189G>A; G397R

PubMed Link: 21445611

Variant Present in the following documents:

• Main text
• 10545_2011_Article_9294.pdf

View BVdb publication page

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Pregnancy-associated hemolytic uremic syndrome revisited in the era of complement gene mutations.

Journal Of The American Society Of Nephrology : Jasn

Fakhouri, Fadi F; Roumenina, Lubka L; Provot, François F; Sallée, Marion M; Caillard, Sophie S; Couzi, Lionel L; Essig, Marie M; Ribes, David D; Dragon-Durey, Marie-Agnès MA; Bridoux, Frank F; Rondeau, Eric E; Frémeaux-Bacchi, Veronique V

Publication Date: 2010-05

Variant appearance in text: N/A

PubMed Link: 20203157

Variant Present in the following documents:

View BVdb publication page

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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: Gly397Arg

PubMed Link: 18366737

Variant Present in the following documents:

• 1471-2350-9-20.pdf

View BVdb publication page

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