Bladder paraganglioma, gastrointestinal stromal tumor, and SDHB germline mutation in a patient with Carney-Stratakis syndrome: A case report and literature review.
Defining the origin, evolution, and immune composition of SDH-deficient renal cell carcinoma.
Iscience
Neves, Joana B JB; Roberts, Kirsty K; Nguyen, Janani Sivakumaran JS; El Sheikh, Soha S; Tran-Dang, My-Anh MA; Horsfield, Catherine C; Mumtaz, Faiz F; Campbell, Peter P; Stauss, Hans H; Tran, Maxine G B MGB; Mitchell, Thomas T
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
Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.
Human Molecular Genetics
Yngvadottir, Bryndis B; Andreou, Avgi A; Bassaganyas, Laia L; Larionov, Alexey A; Cornish, Alex J AJ; Chubb, Daniel D; Saunders, Charlie N CN; Smith, Philip S PS; Zhang, Huairen H; Cole, Yasemin Y; Research Consortium, Genomics England GE; Larkin, James J; Browning, Lisa L; Turajlic, Samra S; Litchfield, Kevin K; Houlston, Richard S RS; Maher, Eamonn R ER
Publication Date: 2022-08-25
Variant appearance in text: SDHB: 72+1G>T; rs587782703
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
Functional significance of germline EPAS1 variants.
Endocrine-Related Cancer
Dwight, Trisha T; Kim, Edward E; Bastard, Karine K; Benn, Diana E DE; Eisenhofer, Graeme G; Richter, Susan S; Mannelli, Massimo M; Rapizzi, Elena E; Prejbisz, Aleksander A; Pęczkowska, Mariola M; Pacak, Karel K; Clifton-Bligh, Roderick 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: SDHB: 72+1G>T; rs587782703
Tumor detection rates in screening of individuals with SDHx-related hereditary paraganglioma-pheochromocytoma syndrome.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Greenberg, Samantha E SE; Jacobs, Michelle F MF; Wachtel, Heather H; Anson, Amanda A; Buchmann, Luke L; Cohen, Debbie L DL; Bonanni, Maria M; Bennett, Bonita B; Naumer, Anne A; Schaefer, Amanda M AM; Kohlmann, Wendy W; Nathanson, Katherine L KL; Else, Tobias T; Fishbein, Lauren L
Characterization of Malignant Head and Neck Paragangliomas at a Single Institution Across Multiple Decades.
Jama Otolaryngology-- Head & Neck Surgery
McCrary, Hilary C HC; Babajanian, Eric E; Calquin, Matias M; Carpenter, Patrick P; Casazza, Geoffrey G; Naumer, Anne A; Greenberg, Samantha S; Kohlmann, Wendy W; Cannon, Richard R; Monroe, Marcus M MM; Hunt, Jason P JP; Buchmann, Luke L
Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Richter, Susan S; Gieldon, Laura L; Pang, Ying Y; Peitzsch, Mirko M; Huynh, Thanh T; Leton, Rocio R; Viana, Bruna B; Ercolino, Tonino T; Mangelis, Anastasios A; Rapizzi, Elena E; Menschikowski, Mario M; Aust, Daniela D; Kroiss, Matthias M; Beuschlein, Felix F; Gudziol, Volker V; Timmers, Henri Jlm HJ; Lenders, Jacques J; Mannelli, Massimo M; Cascon, Alberto A; Pacak, Karel K; Robledo, Mercedes M; Eisenhofer, Graeme G; Klink, Barbara B
Publication Date: 2019-03
Variant appearance in text: SDHB: 72+1G>T; rs587782703
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
Superiority of 68Ga-DOTATATE over 18F-FDG and anatomic imaging in the detection of succinate dehydrogenase mutation (SDHx )-related pheochromocytoma and paraganglioma in the pediatric population.
European Journal Of Nuclear Medicine And Molecular Imaging
Jha, Abhishek A; Ling, Alexander A; Millo, Corina C; Gupta, Garima G; Viana, Bruna B; Lin, Frank I FI; Herscovitch, Peter P; Adams, Karen T KT; Taïeb, David D; Metwalli, Adam R AR; Linehan, W Marston WM; Brofferio, Alessandra A; Stratakis, Constantine A CA; Kebebew, Electron E; Lodish, Maya M; Civelek, Ali Cahid AC; Pacak, Karel K
SDHB-related pheochromocytoma and paraganglioma penetrance and genotype-phenotype correlations.
Journal Of Cancer Research And Clinical Oncology
Jochmanova, Ivana I; Wolf, Katherine I KI; King, Kathryn S KS; Nambuba, Joan J; Wesley, Robert R; Martucci, Victoria V; Raygada, Margarita M; Adams, Karen T KT; Prodanov, Tamara T; Fojo, Antonio Tito AT; Lazurova, Ivica I; Pacak, Karel K
Superiority of [68Ga]-DOTATATE PET/CT to Other Functional Imaging Modalities in the Localization of SDHB-Associated Metastatic Pheochromocytoma and Paraganglioma.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Janssen, Ingo I; Blanchet, Elise M EM; Adams, Karen K; Chen, Clara C CC; Millo, Corina M CM; Herscovitch, Peter P; Taieb, David D; Kebebew, Electron E; Lehnert, Hendrik H; Fojo, Antonio T AT; Pacak, Karel K
Succinate dehydrogenase (SDH)-deficient renal carcinoma: a morphologically distinct entity: a clinicopathologic series of 36 tumors from 27 patients.
The American Journal Of Surgical Pathology
Gill, Anthony J AJ; Hes, Ondrej O; Papathomas, Thomas T; Šedivcová, Monika M; Tan, Puay Hoon PH; Agaimy, Abbas A; Andresen, Per Arne PA; Kedziora, Andrew A; Clarkson, Adele A; Toon, Christopher W CW; Sioson, Loretta L; Watson, Nicole N; Chou, Angela A; Paik, Julie J; Clifton-Bligh, Roderick J RJ; Robinson, Bruce G BG; Benn, Diana E DE; Hills, Kirsten K; Maclean, Fiona F; Niemeijer, Nicolasine D ND; Vlatkovic, Ljiljana L; Hartmann, Arndt A; Corssmit, Eleonora P M EP; van Leenders, Geert J L H GJ; Przybycin, Christopher C; McKenney, Jesse K JK; Magi-Galluzzi, Cristina C; Yilmaz, Asli A; Yu, Darryl D; Nicoll, Katherine D KD; Yong, Jim L JL; Sibony, Mathilde M; Yakirevich, Evgeny E; Fleming, Stewart S; Chow, Chung W CW; Miettinen, Markku M; Michal, Michal M; Trpkov, Kiril K