Publications:

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Case report: targeted sequencing improves the diagnosis of multiple synchronous lung cancers.

Translational Lung Cancer Research

Ba, Yufeng Y; Li, Haomiao H; Zhu, Jianping J; Wang, Haoran H; Lv, Hongwei H; Guo, Chongqing C; Sun, Rui R; Zheng, Jiawen J; Meng, Lin L; Shi, Shanshan S

Publication Date: 2023-04-28

Variant appearance in text: FH: R233H

PubMed Link: 37197634

Variant Present in the following documents:

• tlcr-12-04-933.pdf

View BVdb publication page

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Fumarate hydratase-deficient renal cell carcinoma: a case report and review of the literature.

Journal Of Medical Case Reports

Lv, Yanting Y; Song, Lide L; Hu, Mengjun M

Publication Date: 2023-04-20

Variant appearance in text: FH: R233H

PubMed Link: 37076922

Variant Present in the following documents:

• Main text
• 13256_2023_Article_3841.pdf

View BVdb publication page

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Integrative Analysis of Germline Rare Variants in Clear and Non-Clear Cell Renal Cell Carcinoma.

Medrxiv : The Preprint Server For Health Sciences

Han, Seunghun S; Camp, Sabrina Y SY; Chu, Hoyin H; Collins, Ryan R; Gillani, Riaz R; Park, Jihye J; Bakouny, Ziad Z; Ricker, Cora A CA; Reardon, Brendan B; Moore, Nicholas N; Kofman, Eric E; Labaki, Chris C; Braun, David D; Choueiri, Toni K TK; AlDubayan, Saud H SH; Van Allen, Eliezer M EM

Publication Date: 2023-01-19

Variant appearance in text: FH: 698G>A; Arg233His; rs121913123

PubMed Link: 36712083

Variant Present in the following documents:

• media-1.xlsx, sheet 6
• media-1.xlsx, sheet 10

View BVdb publication page

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Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study.

Plos One

Aoyagi, Yasuko Y; Kano, Yoshihito Y; Tohyama, Kohki K; Matsudera, Shotaro S; Kumaki, Yuichi Y; Takahashi, Kenta K; Mitsumura, Takahiro T; Harada, Yohei Y; Sato, Akemi A; Nakamura, Hideaki H; Sueoka, Eisaburo E; Aragane, Naoko N; Kimura, Koichiro K; Onishi, Iichiro I; Takemoto, Akira A; Akahoshi, Keiichi K; Ono, Hiroaki H; Ishikawa, Toshiaki T; Tokunaga, Masanori M; Nakagawa, Tsuyoshi T; Oshima, Noriko N; Nakamura, Reiko R; Takagi, Masatoshi M; Asakage, Takahiro T; Uetake, Hiroyuki H; Tanabe, Minoru M; Miyake, Satoshi S; Kinugasa, Yusuke Y; Ikeda, Sadakatsu S

Publication Date: 2022

Variant appearance in text: FH: R233H

PubMed Link: 35358259

Variant Present in the following documents:

• pone.0266112.s001.xlsx, sheet 1

View BVdb publication page

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A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma.

Human Genome Variation

Yagi, Yasuto Y; Abeto, Naoko N; Shiraishi, Junichi J; Miyata, Chieko C; Inoue, Satomi S; Murakami, Haruka H; Nakashima, Moeko M; Sugano, Kokichi K; Ushiama, Mineko M; Yoshida, Teruhiko T; Yamazawa, Kazuki K

Publication Date: 2022-01-17

Variant appearance in text: FH: 698G>A; Arg233His

PubMed Link: 35034951

Variant Present in the following documents:

• 41439_2021_180_MOESM1_ESM.pdf

View BVdb publication page

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A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma.

Human Genome Variation

Yagi, Yasuto Y; Abeto, Naoko N; Shiraishi, Junichi J; Miyata, Chieko C; Inoue, Satomi S; Murakami, Haruka H; Nakashima, Moeko M; Sugano, Kokichi K; Ushiama, Mineko M; Yoshida, Teruhiko T; Yamazawa, Kazuki K

Publication Date: 2022-01-17

Variant appearance in text: FH: 698G>A; Arg233His

PubMed Link: 35034951

Variant Present in the following documents:

• 41439_2021_180_MOESM1_ESM.pdf

View BVdb publication page

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Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial.

Jama Pediatrics

, ; Krantz, Ian D ID; Medne, Livija L; Weatherly, Jamila M JM; Wild, K Taylor KT; Biswas, Sawona S; Devkota, Batsal B; Hartman, Tiffiney T; Brunelli, Luca L; Fishler, Kristen P KP; Abdul-Rahman, Omar O; Euteneuer, Joshua C JC; Hoover, Denise D; Dimmock, David D; Cleary, John J; Farnaes, Lauge L; Knight, Jason J; Schwarz, Adam J AJ; Vargas-Shiraishi, Ofelia M OM; Wigby, Kristin K; Zadeh, Neda N; Shinawi, Marwan M; Wambach, Jennifer A JA; Baldridge, Dustin D; Cole, F Sessions FS; Wegner, Daniel J DJ; Urraca, Nora N; Holtrop, Shannon S; Mostafavi, Roya R; Mroczkowski, Henry J HJ; Pivnick, Eniko K EK; Ward, Jewell C JC; Talati, Ajay A; Brown, Chester W CW; Belmont, John W JW; Ortega, Julia L JL; Robinson, Keisha D KD; Brocklehurst, W Tyler WT; Perry, Denise L DL; Ajay, Subramanian S SS; Hagelstrom, R Tanner RT; Bennett, Maren M; Rajan, Vani V; Taft, Ryan J RJ

Publication Date: 2021-12-01

Variant appearance in text: FH: 698G>A; Arg233His

PubMed Link: 34570182

Variant Present in the following documents:

• jamapediatr-e213496-s003.xlsx, sheet 5

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: 698G>A; Arg233His; rs121913123

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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Tumor fraction-guided cell-free DNA profiling in metastatic solid tumor patients.

Genome Medicine

Tsui, Dana W Y DWY; Cheng, Michael L ML; Shady, Maha M; Yang, Julie L JL; Stephens, Dennis D; Won, Helen H; Srinivasan, Preethi P; Huberman, Kety K; Meng, Fanli F; Jing, Xiaohong X; Patel, Juber J; Hasan, Maysun M; Johnson, Ian I; Gedvilaite, Erika E; Houck-Loomis, Brian B; Socci, Nicholas D ND; Selcuklu, S Duygu SD; Seshan, Venkatraman E VE; Zhang, Hongxin H; Chakravarty, Debyani D; Zehir, Ahmet A; Benayed, Ryma R; Arcila, Maria M; Ladanyi, Marc M; Funt, Samuel A SA; Feldman, Darren R DR; Li, Bob T BT; Razavi, Pedram P; Rosenberg, Jonathan J; Bajorin, Dean D; Iyer, Gopa G; Abida, Wassim W; Scher, Howard I HI; Rathkopf, Dana D; Viale, Agnes A; Berger, Michael F MF; Solit, David B DB

Publication Date: 2021-05-31

Variant appearance in text: FH: R233H

PubMed Link: 34059130

Variant Present in the following documents:

• 13073_2021_898_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Jama Oncology

Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM

Publication Date: 2021-04-01

Variant appearance in text: FH: 698G>A; Arg233His

PubMed Link: 33630025

Variant Present in the following documents:

• jamaoncol-e207987-s004.xlsx, sheet 2
• jamaoncol-e207987-s006.xlsx, sheet 2

View BVdb publication page

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Management of 3 Cases of Pheochromocytoma During the COVID-19 Pandemic in New York City: Lessons Learned.

Journal Of The Endocrine Society

Japp, Emily A EA; Leiter, Amanda A; Tsomos, Effie A EA; Reda, Sarah A SA; Levine, Alice C AC

Publication Date: 2021-02-01

Variant appearance in text: FH: 698G>A; Arg233His

PubMed Link: 33447692

Variant Present in the following documents:

• Main text
• bvaa198.pdf

View BVdb publication page

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Mitochondrial DNA alterations underlie an irreversible shift to aerobic glycolysis in fumarate hydratase-deficient renal cancer.

Science Signaling

Crooks, Daniel R DR; Maio, Nunziata N; Lang, Martin M; Ricketts, Christopher J CJ; Vocke, Cathy D CD; Gurram, Sandeep S; Turan, Sevilay S; Kim, Yun-Young YY; Cawthon, G Mariah GM; Sohelian, Ferri F; De Val, Natalia N; Pfeiffer, Ruth M RM; Jailwala, Parthav P; Tandon, Mayank M; Tran, Bao B; Fan, Teresa W-M TW; Lane, Andrew N AN; Ried, Thomas T; Wangsa, Darawalee D; Malayeri, Ashkan A AA; Merino, Maria J MJ; Yang, Youfeng Y; Meier, Jordan L JL; Ball, Mark W MW; Rouault, Tracey A TA; Srinivasan, Ramaprasad R; Linehan, W Marston WM

Publication Date: 2021-01-05

Variant appearance in text: FH: R233H

PubMed Link: 33402335

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: 698G>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: 698G>A; Arg233His; rs121913123

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_596_MOESM2_ESM.xlsx, sheet 7
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 8
• 41379_2020_596_MOESM3_ESM.pdf
• 41379_2020_Article_596.pdf
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 4

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: 698G>A; R233H

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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Fumarase mediates transcriptional response to nutrient stress.

Cell Stress

Zhao, Qin Q; Jiang, Yuhui Y

Publication Date: 2017-10-01

Variant appearance in text: FH: R233H

PubMed Link: 31225435

Variant Present in the following documents:

• ces-01-068.pdf

View BVdb publication page

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The decisive role of fumarase: Responsive signaling to glucose deficiency.

Molecular & Cellular Oncology

Yu, Qiujing Q; Wang, Ting T; Jiang, Yuhui Y

Publication Date: 2018

Variant appearance in text: FH: R233H

PubMed Link: 30250906

Variant Present in the following documents:

• Main text

View BVdb publication page

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Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics

Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C

Publication Date: 2018-04

Variant appearance in text: FH: R233H

PubMed Link: 29684080

Variant Present in the following documents:

• pgen.1007352.s010.xlsx, sheet 1

View BVdb publication page

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Hereditary leiomyomatosis and renal cell cancer: Cutaneous lesions & atypical fibroids.

Case Reports In Women'S Health

Bortoletto, Pietro P; Lindsey, Jennifer L JL; Yuan, Liping L; Quade, Bradley J BJ; Gargiulo, Antonio R AR; Morton, Cynthia C CC; Stewart, Elizabeth A EA; Anchan, Raymond M RM

Publication Date: 2017-07

Variant appearance in text: FH: R233H

PubMed Link: 29593997

Variant Present in the following documents:

• Main text
• main.pdf

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: 698G>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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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: 698G>A; Arg233His

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: R233H

PubMed Link: 27635946

Variant Present in the following documents:

• Main text

View BVdb publication page

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Reed syndrome presenting with leiomyosarcoma.

Jaad Case Reports

Wang, Casey C; Tetzlaff, Michael M; Hick, Ryan R; Duvic, Madeleine M

Publication Date: 2015-05

Variant appearance in text: FH: 698G>A; R233H

PubMed Link: 27051714

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Local generation of fumarate promotes DNA repair through inhibition of histone H3 demethylation.

Nature Cell Biology

Jiang, Yuhui Y; Qian, Xu X; Shen, Jianfeng J; Wang, Yugang Y; Li, Xinjian X; Liu, Rui R; Xia, Yan Y; Chen, Qianming Q; Peng, Guang G; Lin, Shiaw-Yih SY; Lu, Zhimin Z

Publication Date: 2015-09

Variant appearance in text: FH: R233H

PubMed Link: 26237645

Variant Present in the following documents:

• Main text

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: FH: R233H

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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: Arg233His; rs121913123

PubMed Link: 26113603

Variant Present in the following documents:

• Main text
• ERC150208.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: 698G>A; R233H

PubMed Link: 24441663

Variant Present in the following documents:

• Main text

View BVdb publication page

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Uterine smooth muscle tumors with features suggesting fumarate hydratase aberration: detailed morphologic analysis and correlation with S-(2-succino)-cysteine immunohistochemistry.

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

Reyes, Carolina C; Karamurzin, Yevgeniy Y; Frizzell, Norma N; Garg, Karuna K; Nonaka, Daisuke D; Chen, Ying-Bei YB; Soslow, Robert A RA

Publication Date: 2014-07

Variant appearance in text: FH: Arg233His

PubMed Link: 24309325

Variant Present in the following documents:

• Main text
• nihms-528949.pdf

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: 698G>A; R233H

PubMed Link: 21445611

Variant Present in the following documents:

• Main text
• 10545_2011_Article_9294.pdf

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: Arg233His

PubMed Link: 18366737

Variant Present in the following documents:

• Main text
• 1471-2350-9-20.pdf

View BVdb publication page

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