FH c.1027C>T ;(p.R343*)

Variant ID: 1-241667423-G-A

NM_000143.3(FH):c.1027C>T;(p.R343*)

This variant was identified in 21 publications

View GRCh38 version.




Publications:


A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine
Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY
Publication Date: 2022-05-17

Variant appearance in text: FH: 1027C>T; Arg343Ter
PubMed Link: 35584624
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-05-10

Variant appearance in text: FH: R343X
PubMed Link: 35538087
Variant Present in the following documents:
  • 41467_2022_30446_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-02-23

Variant appearance in text: FH: R343X
PubMed Link: 35197475
Variant Present in the following documents:
  • 41467_2022_28566_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Birt-Hogg-Dubé Syndrome and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome: An Effective Multidisciplinary Approach to Hereditary Renal Cancer Predisposing Syndromes.

Frontiers In Oncology
Al-Shinnag, Mohammad M; Marfan, Helen H; Susman, Rachel R; Wakeling, Jan J; Gustafson, Sonja S; Wood, Simon S; Mallett, Andrew John AJ
Publication Date: 2021

Variant appearance in text: FH: 1027C>T; Arg343*
PubMed Link: 34604083
Variant Present in the following documents:
  • Main text
  • fonc-11-738822.pdf
View BVdb publication page



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: 1027C>T; Arg343Ter; rs121913122
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: R343X
PubMed Link: 33402335
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: FH: 1027C>T; R343*
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Genotypic and Phenotypic Characteristics of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Korean Patients.

Annals Of Laboratory Medicine
Seo, Ja Young JY; Ahn, Jeong-Yeal JY; Keam, Bhumsuk B; Kim, Miso M; Yoon, Shinkyo S; Lee, Jae Lyun JL; Park, Kwonoh K; Park, Inkeun I
Publication Date: 2021-03-01

Variant appearance in text: FH: 1027C>T; Arg343*
PubMed Link: 33063682
Variant Present in the following documents:
  • ALM-41-207.pdf
View BVdb publication page



Analysis of CRISPR-Cas9 screens identifies genetic dependencies in melanoma.

Pigment Cell & Melanoma Research
Christodoulou, Eirini E; Rashid, Mamunur M; Pacini, Clare C; Droop, Alastair A; Robertson, Holly H; Groningen, Tim van TV; Teunisse, Amina F A S AFAS; Iorio, Francesco F; Jochemsen, Aart G AG; Adams, David J DJ; Doorn, Remco van RV
Publication Date: 2021-01

Variant appearance in text: FH: R343*
PubMed Link: 32767816
Variant Present in the following documents:
  • PCMR-34-122-s006.xlsx, sheet 1
View BVdb publication page



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: 1027C>T; Arg343Ter; rs121913122
PubMed Link: 32612247
Variant Present in the following documents:
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 7
  • 41379_2020_596_MOESM3_ESM.pdf
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 6
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 4
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 5
View BVdb publication page



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: 1027C>T; R343*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Integrative molecular and clinical modeling of clinical outcomes to PD1 blockade in patients with metastatic melanoma.

Nature Medicine
Liu, David D; Schilling, Bastian B; Liu, Derek D; Sucker, Antje A; Livingstone, Elisabeth E; Jerby-Arnon, Livnat L; Zimmer, Lisa L; Gutzmer, Ralf R; Satzger, Imke I; Loquai, Carmen C; Grabbe, Stephan S; Vokes, Natalie N; Margolis, Claire A CA; Conway, Jake J; He, Meng Xiao MX; Elmarakeby, Haitham H; Dietlein, Felix F; Miao, Diana D; Tracy, Adam A; Gogas, Helen H; Goldinger, Simone M SM; Utikal, Jochen J; Blank, Christian U CU; Rauschenberg, Ricarda R; von Bubnoff, Dagmar D; Krackhardt, Angela A; Weide, Benjamin B; Haferkamp, Sebastian S; Kiecker, Felix F; Izar, Ben B; Garraway, Levi L; Regev, Aviv A; Flaherty, Keith K; Paschen, Annette A; Van Allen, Eliezer M EM; Schadendorf, Dirk D
Publication Date: 2019-12

Variant appearance in text: FH: 1027C>T
PubMed Link: 31792460
Variant Present in the following documents:
  • 41591_2019_654_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans.

Nature Communications
Kaasinen, Eevi E; Kuismin, Outi O; Rajamäki, Kristiina K; Ristolainen, Heikki H; Aavikko, Mervi M; Kondelin, Johanna J; Saarinen, Silva S; Berta, Davide G DG; Katainen, Riku R; Hirvonen, Elina A M EAM; Karhu, Auli A; Taira, Aurora A; Tanskanen, Tomas T; Alkodsi, Amjad A; Taipale, Minna M; Morgunova, Ekaterina E; Franssila, Kaarle K; Lehtonen, Rainer R; Mäkinen, Markus M; Aittomäki, Kristiina K; Palotie, Aarno A; Kurki, Mitja I MI; Pietiläinen, Olli O; Hilpert, Morgane M; Saarentaus, Elmo E; Niinimäki, Jaakko J; Junttila, Juhani J; Kaikkonen, Kari K; Vahteristo, Pia P; Skoda, Radek C RC; Seppänen, Mikko R J MRJ; Eklund, Kari K KK; Taipale, Jussi J; Kilpivaara, Outi O; Aaltonen, Lauri A LA
Publication Date: 2019-03-19

Variant appearance in text: FH: 1027C>T; R343X
PubMed Link: 30890702
Variant Present in the following documents:
  • Main text
  • 41467_2019_Article_9198.pdf
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: FH: R343X; rs121913122
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Global metabolomic profiling of uterine leiomyomas.

British Journal Of Cancer
Heinonen, Hanna-Riikka HR; Mehine, Miika M; Mäkinen, Netta N; Pasanen, Annukka A; Pitkänen, Esa E; Karhu, Auli A; Sarvilinna, Nanna S NS; Sjöberg, Jari J; Heikinheimo, Oskari O; Bützow, Ralf R; Aaltonen, Lauri A LA; Kaasinen, Eevi E
Publication Date: 2017-12-05

Variant appearance in text: FH: 1027C>T
PubMed Link: 29073636
Variant Present in the following documents:
  • bjc2017361x2.xlsx, sheet 1
View BVdb publication page



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: 1027C>T; Arg343Ter
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One
LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC
Publication Date: 2017

Variant appearance in text: FH: 1027C>T; R343*
PubMed Link: 28152038
Variant Present in the following documents:
  • pone.0170843.s004.xlsx, sheet 1
  • pone.0170843.s003.xlsx, sheet 1
View BVdb publication page



MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas.

British Journal Of Cancer
Kämpjärvi, Kati K; Mäkinen, Netta N; Mehine, Miika M; Välipakka, Salla S; Uimari, Outi O; Pitkänen, Esa E; Heinonen, Hanna-Riikka HR; Heikkinen, Tuomas T; Tolvanen, Jaana J; Ahtikoski, Anne A; Frizzell, Norma N; Sarvilinna, Nanna N; Sjöberg, Jari J; Bützow, Ralf R; Aaltonen, Lauri A LA; Vahteristo, Pia P
Publication Date: 2016-06-14

Variant appearance in text: FH: 1027C>T; R343X
PubMed Link: 27187686
Variant Present in the following documents:
  • bjc2016130x2.pdf
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: FH: R343*
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page



MED12 exon 2 mutations in histopathological uterine leiomyoma variants.

European Journal Of Human Genetics : Ejhg
Mäkinen, Netta N; Vahteristo, Pia P; Kämpjärvi, Kati K; Arola, Johanna J; Bützow, Ralf R; Aaltonen, Lauri A LA
Publication Date: 2013-11

Variant appearance in text: FH: 1027C>T; R343X
PubMed Link: 23443020
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: Arg343X
PubMed Link: 18366737
Variant Present in the following documents:
  • 1471-2350-9-20.pdf
View BVdb publication page