Publications:

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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: 584T>C; Met195Thr

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: 584T>C; Met195Thr

PubMed Link: 35034951

Variant Present in the following documents:

• 41439_2021_180_MOESM1_ESM.pdf

View BVdb publication page

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Single nucleotide variants of succinate dehydrogenase A gene in renal cell carcinoma.

Cancer Science

Kamai, Takao T; Higashi, Satoru S; Murakami, Satoshi S; Arai, Kyoko K; Namatame, Takashi T; Kijima, Toshiki T; Abe, Hideyuki H; Jamiyan, Tsengelmaa T; Ishida, Kazuyuki K; Shirataki, Hiromichi H; Yoshida, Ken-Ichiro KI

Publication Date: 2021-08

Variant appearance in text: FH: Met195Thr

PubMed Link: 34014604

Variant Present in the following documents:

• Main text
• CAS-112-3375.pdf

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Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry

Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ

Publication Date: 2021-09

Variant appearance in text: FH: M195T

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

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: 584T>C; Met195Thr

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 5
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

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Hereditary leiomyomatosis and renal cell cancer (HLRCC): A case report.

Urology Case Reports

Yonamine, Tomoko T; Kaname, Tadashi T; Chinen, Yasutsugu Y; Tamashiro, Kouichi K; Kosuge, Noritake N; Saito, Seiichi S

Publication Date: 2020-05

Variant appearance in text: FH: M195T

PubMed Link: 32154112

Variant Present in the following documents:

• Main text
• main.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: 584T>C; M195T

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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Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma.

Human Mutation

Zhang, Liying L; Walsh, Michael F MF; Jairam, Sowmya S; Mandelker, Diana D; Zhong, Yi Y; Kemel, Yelena Y; Chen, Ying-Bei YB; Musheyev, David D; Zehir, Ahmet A; Jayakumaran, Gowtham G; Brzostowski, Edyta E; Birsoy, Ozge O; Yang, Ciyu C; Li, Yirong Y; Somar, Joshua J; DeLair, Deborah D; Pradhan, Nisha N; Berger, Michael F MF; Cadoo, Karen K; Carlo, Maria I MI; Robson, Mark E ME; Stadler, Zsofia K ZK; Iacobuzio-Donahue, Christine A CA; Joseph, Vijai V; Offit, Kenneth K

Publication Date: 2020-01

Variant appearance in text: FH: 584T>C; Met195Thr

PubMed Link: 31444830

Variant Present in the following documents:

• Main text

View BVdb publication page

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Toward automation of germline variant curation in clinical cancer genetics.

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

Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J

Publication Date: 2019-09

Variant appearance in text: FH: 584T>C; Met195Thr

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 7

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: 584T>C; M195T

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: Met195Thr

PubMed Link: 18366737

Variant Present in the following documents:

• 1471-2350-9-20.pdf

View BVdb publication page

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