Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort.
Bmc Medicine
Savatt, Juliann M JM; Ortiz, Nicole M NM; Thone, Gretchen M GM; McDonald, Whitney S WS; Kelly, Melissa A MA; Berry, Alexander S F ASF; Alvi, Madiha M MM; Hallquist, Miranda L G MLG; Malinowski, Jennifer J; Purdy, Nicholas C NC; Williams, Marc S MS; Sturm, Amy C AC; Buchanan, Adam H AH
Publication Date: 2022-06-07
Variant appearance in text: SDHC: 397C>T; Arg133Ter
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.
Human Mutation
DeRoin, Lia L; Cavalcante de Andrade Silva, Marcela M; Petras, Kristin K; Arndt, Kelly K; Phillips, Nathaniel N; Wanjari, Pankhuri P; Subramanian, Hari Prasanna HP; Montes, David D; McElherne, James J; Theissen, Megan M; Briese, Renee R; Das, Soma S; Godley, Lucy A LA; Segal, Jeremy J; Del Gaudio, Daniela D; Fitzpatrick, Carrie C; Churpek, Jane E JE
Head/neck paragangliomas: focus on tumor location, mutational status and plasma methoxytyramine.
Endocrine-Related Cancer
Richter, Susan S; Qiu, Bei B; Ghering, Mirthe M; Kunath, Carola C; Constantinescu, Georgiana G; Luths, Charlotte C; Pamporaki, Christina C; Bechmann, Nicole N; Meuter, Leah L; Kwapiszewska, Aleksandra A; Deutschbein, Timo T; Nölting, Svenja S; Peitzsch, Mirko M; Robledo, Mercedes M; Prejbisz, Aleksander A; Pacak, Karel K; Gudziol, Volker V; Timmers, Henri J L M HJLM; Eisenhofer, Graeme G
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
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
Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.
Frontiers In Oncology
Zimmermann, Michael T MT; Mathison, Angela J AJ; Stodola, Tim T; Evans, Douglas B DB; Abrudan, Jenica L JL; Demos, Wendy W; Tschannen, Michael M; Aldakkak, Mohammed M; Geurts, Jennifer J; Lomberk, Gwen G; Tsai, Susan S; Urrutia, Raul R
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Nature
Van Hout, Cristopher V CV; Tachmazidou, Ioanna I; Backman, Joshua D JD; Hoffman, Joshua D JD; Liu, Daren D; Pandey, Ashutosh K AK; Gonzaga-Jauregui, Claudia C; Khalid, Shareef S; Ye, Bin B; Banerjee, Nilanjana N; Li, Alexander H AH; O'Dushlaine, Colm C; Marcketta, Anthony A; Staples, Jeffrey J; Schurmann, Claudia C; Hawes, Alicia A; Maxwell, Evan E; Barnard, Leland L; Lopez, Alexander A; Penn, John J; Habegger, Lukas L; Blumenfeld, Andrew L AL; Bai, Xiaodong X; O'Keeffe, Sean S; Yadav, Ashish A; Praveen, Kavita K; Jones, Marcus M; Salerno, William J WJ; Chung, Wendy K WK; Surakka, Ida I; Willer, Cristen J CJ; Hveem, Kristian K; Leader, Joseph B JB; Carey, David J DJ; Ledbetter, David H DH; , ; Cardon, Lon L; Yancopoulos, George D GD; Economides, Aris A; Coppola, Giovanni G; Shuldiner, Alan R AR; Balasubramanian, Suganthi S; Cantor, Michael M; , ; Nelson, Matthew R MR; Whittaker, John J; Reid, Jeffrey G JG; Marchini, Jonathan J; Overton, John D JD; Scott, Robert A RA; Abecasis, Gonçalo R GR; Yerges-Armstrong, Laura L; Baras, Aris A
Publication Date: 2020-10
Variant appearance in text: SDHC: 397C>T; Arg133*; rs764575966
Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.
Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Mutational profile and genotype/phenotype correlation of non-familial pheochromocytoma and paraganglioma.
Oncotarget
Albattal, Shatha S; Alswailem, Meshael M; Moria, Yosra Y; Al-Hindi, Hindi H; Dasouki, Majed M; Abouelhoda, Mohamed M; Alkhail, Hala Aba HA; Alsuhaibani, Entissar E; Alzahrani, Ali S AS
Publication Date: 2019-10-15
Variant appearance in text: SDHC: 397C>T; Arg133Ter
Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches.
Cancers
Gieldon, Laura L; William, Doreen D; Hackmann, Karl K; Jahn, Winnie W; Jahn, Arne A; Wagner, Johannes J; Rump, Andreas A; Bechmann, Nicole N; Nölting, Svenja S; Knösel, Thomas T; Gudziol, Volker V; Constantinescu, Georgiana G; Masjkur, Jimmy J; Beuschlein, Felix F; Timmers, Henri Jlm HJ; Canu, Letizia L; Pacak, Karel K; Robledo, Mercedes M; Aust, Daniela D; Schröck, Evelin E; Eisenhofer, Graeme G; Richter, Susan S; Klink, Barbara B
Bayesian approach to determining penetrance of pathogenic SDH variants.
Journal Of Medical Genetics
Benn, Diana E DE; Zhu, Ying Y; Andrews, Katrina A KA; Wilding, Mathilda M; Duncan, Emma L EL; Dwight, Trisha T; Tothill, Richard W RW; Burgess, John J; Crook, Ashley A; Gill, Anthony J AJ; Hicks, Rodney J RJ; Kim, Edward E; Luxford, Catherine C; Marfan, Helen H; Richardson, Anne Louise AL; Robinson, Bruce B; Schlosberg, Arran A; Susman, Rachel R; Tacon, Lyndal L; Trainer, Alison A; Tucker, Katherine K; Maher, Eamonn R ER; Field, Michael M; Clifton-Bligh, Roderick J RJ
Snezhkina, Anastasiya V AV; Lukyanova, Elena N EN; Kalinin, Dmitry V DV; Pokrovsky, Anatoly V AV; Dmitriev, Alexey A AA; Koroban, Nadezhda V NV; Pudova, Elena A EA; Fedorova, Maria S MS; Volchenko, Nadezhda N NN; Stepanov, Oleg A OA; Zhevelyuk, Ekaterina A EA; Kharitonov, Sergey L SL; Lipatova, Anastasiya V AV; Abramov, Ivan S IS; Golovyuk, Alexander V AV; Yegorov, Yegor E YE; Vishnyakova, Khava S KS; Moskalev, Alexey A AA; Krasnov, George S GS; Melnikova, Nataliya V NV; Shcherbo, Dmitry S DS; Kiseleva, Marina V MV; Kaprin, Andrey D AD; Alekseev, Boris Y BY; Zaretsky, Andrew R AR; Kudryavtseva, Anna V AV
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.
Journal Of Medical Genetics
Andrews, Katrina A KA; Ascher, David B DB; Pires, Douglas Eduardo Valente DEV; Barnes, Daniel R DR; Vialard, Lindsey L; Casey, Ruth T RT; Bradshaw, Nicola N; Adlard, Julian J; Aylwin, Simon S; Brennan, Paul P; Brewer, Carole C; Cole, Trevor T; Cook, Jackie A JA; Davidson, Rosemarie R; Donaldson, Alan A; Fryer, Alan A; Greenhalgh, Lynn L; Hodgson, Shirley V SV; Irving, Richard R; Lalloo, Fiona F; McConachie, Michelle M; McConnell, Vivienne P M VPM; Morrison, Patrick J PJ; Murday, Victoria V; Park, Soo-Mi SM; Simpson, Helen L HL; Snape, Katie K; Stewart, Susan S; Tomkins, Susan E SE; Wallis, Yvonne Y; Izatt, Louise L; Goudie, David D; Lindsay, Robert S RS; Perry, Colin G CG; Woodward, Emma R ER; Antoniou, Antonis C AC; Maher, Eamonn R ER
Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review.
The Journal Of Clinical Endocrinology And Metabolism
Casey, Ruth T RT; Warren, Anne Y AY; Martin, Jose Ezequiel JE; Challis, Benjamin G BG; Rattenberry, Eleanor E; Whitworth, James J; Andrews, Katrina A KA; Roberts, Thomas T; Clark, Graeme R GR; West, Hannah H; Smith, Philip S PS; Docquier, France M FM; Rodger, Fay F; Murray, Vicki V; Simpson, Helen L HL; Wallis, Yvonne Y; Giger, Olivier O; Tran, Maxine M; Tomkins, Susan S; Stewart, Grant D GD; Park, Soo-Mi SM; Woodward, Emma R ER; Maher, Eamonn R ER
Vascular Endothelial Growth Factor Receptor-Targeted Therapy in Succinate Dehydrogenase C Kidney Cancer.
Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Shuch, Brian B; Agochukwu, Nnenaya N; Ricketts, Christopher J CJ; Vocke, Cathy D CD; Gautam, Rabindra R; Merino, Maria M; Linehan, W Marston WM; Srinivasan, Ramaparasad R
The clinical phenotype of SDHC-associated hereditary paraganglioma syndrome (PGL3).
The Journal Of Clinical Endocrinology And Metabolism
Else, Tobias T; Marvin, Monica L ML; Everett, Jessica N JN; Gruber, Stephen B SB; Arts, H Alexander HA; Stoffel, Elena M EM; Auchus, Richard J RJ; Raymond, Victoria M VM
Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutation.
The American Journal Of Surgical Pathology
Miettinen, Markku M; Killian, Jonathan Keith JK; Wang, Zeng-Feng ZF; Lasota, Jerzy J; Lau, Christopher C; Jones, Laura L; Walker, Robert R; Pineda, Marbin M; Zhu, Yuelin Jack YJ; Kim, Su Y SY; Helman, Lee L; Meltzer, Paul P
Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer.
The Journal Of Urology
Ricketts, Christopher J CJ; Shuch, Brian B; Vocke, Cathy D CD; Metwalli, Adam R AR; Bratslavsky, Gennady G; Middelton, Lindsay L; Yang, Youfeng Y; Wei, Ming-Hui MH; Pautler, Stephen E SE; Peterson, James J; Stolle, Catherine A CA; Zbar, Berton B; Merino, Maria J MJ; Schmidt, Laura S LS; Pinto, Peter A PA; Srinivasan, Ramaprasad R; Pacak, Karel K; Linehan, W Marston WM