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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. Among authors: stenman a. JAMA Oncol. 2017 Sep 1;3(9):1204-1212. doi: 10.1001/jamaoncol.2017.0223. JAMA Oncol. 2017. PMID: 28384794 Free PMC article.
Whole-exome sequencing characterizes the landscape of somatic mutations and copy number alterations in adrenocortical carcinoma.
Juhlin CC, Goh G, Healy JM, Fonseca AL, Scholl UI, Stenman A, Kunstman JW, Brown TC, Overton JD, Mane SM, Nelson-Williams C, Bäckdahl M, Suttorp AC, Haase M, Choi M, Schlessinger J, Rimm DL, Höög A, Prasad ML, Korah R, Larsson C, Lifton RP, Carling T. Juhlin CC, et al. Among authors: stenman a. J Clin Endocrinol Metab. 2015 Mar;100(3):E493-502. doi: 10.1210/jc.2014-3282. Epub 2014 Dec 9. J Clin Endocrinol Metab. 2015. PMID: 25490274 Free PMC article.
Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene.
Juhlin CC, Stenman A, Haglund F, Clark VE, Brown TC, Baranoski J, Bilguvar K, Goh G, Welander J, Svahn F, Rubinstein JC, Caramuta S, Yasuno K, Günel M, Bäckdahl M, Gimm O, Söderkvist P, Prasad ML, Korah R, Lifton RP, Carling T. Juhlin CC, et al. Among authors: stenman a. Genes Chromosomes Cancer. 2015 Sep;54(9):542-54. doi: 10.1002/gcc.22267. Epub 2015 May 29. Genes Chromosomes Cancer. 2015. PMID: 26032282 Free PMC article.
Absence of KMT2D/MLL2 mutations in abdominal paraganglioma.
Stenman A, Juhlin CC, Haglund F, Brown TC, Clark VE, Svahn F, Bilguvar K, Goh G, Korah R, Lifton RP, Carling T. Stenman A, et al. Clin Endocrinol (Oxf). 2016 Apr;84(4):632-4. doi: 10.1111/cen.12884. Epub 2015 Sep 22. Clin Endocrinol (Oxf). 2016. PMID: 26303934 No abstract available.
Absence of the BRAF V600E mutation in pheochromocytoma.
Paulsson JO, Svahn F, Welander J, Brunaud L, Söderkvist P, Gimm O, Stenman A, Juhlin CC. Paulsson JO, et al. Among authors: stenman a. J Endocrinol Invest. 2016 Jun;39(6):715-6. doi: 10.1007/s40618-015-0420-6. Epub 2015 Dec 28. J Endocrinol Invest. 2016. PMID: 26710756
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