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Page 1
Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.
Bausch B, Schiavi F, Ni Y, Welander J, Patocs A, Ngeow J, Wellner U, Malinoc A, Taschin E, Barbon G, Lanza V, Söderkvist P, Stenman A, Larsson C, Svahn F, Chen JL, Marquard J, Fraenkel M, Walter MA, Peczkowska M, Prejbisz A, Jarzab B, Hasse-Lazar K, Petersenn S, Moeller LC, Meyer A, Reisch N, Trupka A, Brase C, Galiano M, Preuss SF, Kwok P, Lendvai N, Berisha G, Makay Ö, Boedeker CC, Weryha G, Racz K, Januszewicz A, Walz MK, Gimm O, Opocher G, Eng C, Neumann HPH; European-American-Asian Pheochromocytoma-Paraganglioma Registry Study Group. Bausch B, et al. JAMA Oncol. 2017 Sep 1;3(9):1204-1212. doi: 10.1001/jamaoncol.2017.0223. JAMA Oncol. 2017. PMID: 28384794 Free PMC article.
OBJECTIVE: To study the clinical spectra and age-related penetrance of individuals with mutations in the SDHA, TMEM127, MAX, and SDHAF2 genes. DESIGN, SETTING, AND PATIENTS: This study analyzed the prospective, longitudinally followed up European-American-Asian Pheochromoc …
OBJECTIVE: To study the clinical spectra and age-related penetrance of individuals with mutations in the SDHA, TMEM127, MAX, and SDHAF2 …
An overview of 20 years of genetic studies in pheochromocytoma and paraganglioma.
Buffet A, Burnichon N, Favier J, Gimenez-Roqueplo AP. Buffet A, et al. Best Pract Res Clin Endocrinol Metab. 2020 Mar;34(2):101416. doi: 10.1016/j.beem.2020.101416. Epub 2020 Mar 10. Best Pract Res Clin Endocrinol Metab. 2020. PMID: 32295730 Review.
More than half of the mutations occur in one of the SDHx genes (SDHA, SDHB, SDHC, SDHD, SDHAF2), which encode the different subunits and assembly protein of a mitochondrial enzyme, succinate dehydrogenase. ...
More than half of the mutations occur in one of the SDHx genes (SDHA, SDHB, SDHC, SDHD, SDHAF2), which encode the different subunits …
Hereditary Paraganglioma-Pheochromocytoma Syndromes.
Else T, Greenberg S, Fishbein L. Else T, et al. 2008 May 21 [updated 2023 Sep 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2008 May 21 [updated 2023 Sep 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301715 Free Books & Documents. Review.
The diagnosis is established in a proband with a personal or family history of paraganglioma or pheochromocytoma and a germline heterozygous pathogenic variant in MAX, SDHA, SDHAF2, SDHB, SDHC, SDHD, or TMEM127 identified by molecular genetic testing. ...Each child of an i …
The diagnosis is established in a proband with a personal or family history of paraganglioma or pheochromocytoma and a germline heterozygous …
Genetic testing and surveillance guidelines in hereditary pheochromocytoma and paraganglioma.
Muth A, Crona J, Gimm O, Elmgren A, Filipsson K, Stenmark Askmalm M, Sandstedt J, Tengvar M, Tham E. Muth A, et al. J Intern Med. 2019 Feb;285(2):187-204. doi: 10.1111/joim.12869. Epub 2019 Jan 15. J Intern Med. 2019. PMID: 30536464 Free article. Review.
At minimum, FH, NF1, RET, SDHB, SDHD and VHL should be tested. In addition, testing of MEN1, SDHA, SDHAF2, SDHC, TMEM127 and MAX is recommended. Healthy first-degree relatives (and second-degree relatives in the case of SDHD and SDHAF2 which are maternally imprinted …
At minimum, FH, NF1, RET, SDHB, SDHD and VHL should be tested. In addition, testing of MEN1, SDHA, SDHAF2, SDHC, TMEM127 and MAX is r …
The Assembly Factor SDHAF2 Is Dispensable for Flavination of the Catalytic Subunit of Mitochondrial Complex II in Breast Cancer Cells.
Bezawork-Geleta A, Dong L, Rohlena J, Neuzil J. Bezawork-Geleta A, et al. J Biol Chem. 2016 Oct 7;291(41):21414-21420. doi: 10.1074/jbc.C116.755017. Epub 2016 Sep 1. J Biol Chem. 2016. PMID: 27587393 Free PMC article.
Here we demonstrate that in human breast cancer cells, SDHAF2/SDH5 is dispensable for SDHA flavination. In contrast to yeast, CRISPR-Cas9 nickase-mediated SDHAF2 KO breast cancer cells feature flavinated SDHA and retain fully assembled and functional c …
Here we demonstrate that in human breast cancer cells, SDHAF2/SDH5 is dispensable for SDHA flavination. In contrast to yeast, …
SDH mutations in cancer.
Bardella C, Pollard PJ, Tomlinson I. Bardella C, et al. Biochim Biophys Acta. 2011 Nov;1807(11):1432-43. doi: 10.1016/j.bbabio.2011.07.003. Epub 2011 Jul 13. Biochim Biophys Acta. 2011. PMID: 21771581 Free article. Review.
Germline loss-of-function mutations in any of the SDH genes or assembly factor (SDHAF2) cause hereditary paraganglioma/phaeochromocytoma syndrome (HPGL/PCC) through a mechanism which is largely unknown. ...
Germline loss-of-function mutations in any of the SDH genes or assembly factor (SDHAF2) cause hereditary paraganglioma/phaeochromocyt …
Pituitary tumours: molecular and genetic aspects.
De Sousa SMC, Lenders NF, Lamb LS, Inder WJ, McCormack A. De Sousa SMC, et al. J Endocrinol. 2023 May 12;257(3):e220291. doi: 10.1530/JOE-22-0291. Print 2023 Jun 1. J Endocrinol. 2023. PMID: 36951812 Review.
This includes variants in established pituitary adenoma/hyperplasia predisposition genes (MEN1, PRKAR1A, AIP, CDKN1B, GPR101, SDHA, SDHB, SDHC, SDHD, SDHAF2) as well as emerging genetic associations. In addition, we discuss McCune-Albright syndrome which lies between the g …
This includes variants in established pituitary adenoma/hyperplasia predisposition genes (MEN1, PRKAR1A, AIP, CDKN1B, GPR101, SDHA, SDHB, SD …
Hereditary succinate dehydrogenase-deficient renal cell carcinoma.
Rogala J, Zhou M. Rogala J, et al. Semin Diagn Pathol. 2024 Jan;41(1):32-41. doi: 10.1053/j.semdp.2023.11.001. Epub 2023 Nov 8. Semin Diagn Pathol. 2024. PMID: 37981479 Review.
Succinate dehydrogenase (SDH), formed by four subunits SDHA, SDHB, SDHC, SDHD, and an assembly factor SDHAF2, functions as a key respiratory enzyme. Biallelic inactivation of genes encoding any of the components, almost always in the presence of a germline mutation, causes …
Succinate dehydrogenase (SDH), formed by four subunits SDHA, SDHB, SDHC, SDHD, and an assembly factor SDHAF2, functions as a key resp …
Connecting molecular pathways to hereditary cancer risk syndromes.
Testa JR, Malkin D, Schiffman JD. Testa JR, et al. Am Soc Clin Oncol Educ Book. 2013:81-90. doi: 10.14694/EdBook_AM.2013.33.81. Am Soc Clin Oncol Educ Book. 2013. PMID: 23714463 Free PMC article. Review.
An understanding of the genetic causes and molecular pathways of hereditary cancer syndromes has historically informed our knowledge and treatment of all types of cancers. ...TP53 mutations cause Li-Fraumeni syndrome (LFS), a highly penetrant cancer syndrome …
An understanding of the genetic causes and molecular pathways of hereditary cancer syndromes has historically informed our knowledge …
New Insights on the Genetics of Pheochromocytoma and Paraganglioma and Its Clinical Implications.
Jhawar S, Arakawa Y, Kumar S, Varghese D, Kim YS, Roper N, Elloumi F, Pommier Y, Pacak K, Del Rivero J. Jhawar S, et al. Cancers (Basel). 2022 Jan 25;14(3):594. doi: 10.3390/cancers14030594. Cancers (Basel). 2022. PMID: 35158861 Free PMC article. Review.
The pseudohypoxic group or cluster I includes the following genes: SDHA, SDHB, SDHC, SDHD, SDHAF2, FH, VHL, IDH1/2, MHD2, EGLN1/2 and HIF2/EPAS; the kinase group or cluster II includes RET, NF1, TMEM127, MAX and HRAS; and the Wnt signaling group or cluster III includes CSD …
The pseudohypoxic group or cluster I includes the following genes: SDHA, SDHB, SDHC, SDHD, SDHAF2, FH, VHL, IDH1/2, MHD2, EGLN1/2 and …
138 results