Searching journal content for susceptibility genes (as phrase) in full text.

Displaying results 1-10 of 76
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  1. Research:
    • Amruta Ashtekar,
    • Danielle Huk,
    • Alexa Magner,
    • Krista La Perle,
    • Xiaoli Zhang,
    • José I Piruat,
    • José López-Barneo,
    • Sissy M Jhiang,
    • and Lawrence S Kirschner
    Sdhd ablation promotes thyroid tumorigenesis by inducing a stem-like phenotype Endocr Relat Cancer 24 (11) 579-591, doi:10.1530/ERC-17-0229 first published on 19 September 2017
    ...susceptibility genes (Nagy et  al. 2004, Tomsic et  al. 2015). Cowden syndrome (CS) is an autosomal dominant disorder that is characterized by high risk of breast cancer, thyroid neoplasms, uterine tumors, gastrointestinal hamartomas and less frequent tumors in other solid organs (Marsh et al. 1998, ~~~
  2. Research Letter:
    • Yilun Deng,
    • Shahida K Flores,
    • ZiMing Cheng,
    • Yuejuan Qin,
    • Robin C Schwartz,
    • Carl Malchoff,
    • and Patricia L M Dahia
    Molecular and phenotypic evaluation of a novel germline TMEM127 mutation with an uncommon clinical presentation Endocr Relat Cancer 24 (11) L79-L82, doi:10.1530/ERC-17-0359 first published on 30 August 2017
    ...susceptibility genes screened. Furthermore, no somatic mutations were found at highdepth sequencing (average 180×) of the proband’s frozen PHEO using Illumina TruSeq Cancer Panel screening of 42 cancer genes. The TMEM127-532dupT mutation was also detected in germline DNA from one affected sister (Fi ~~~
  3. Thematic Review:
    • Sunita K Agarwal
    The future: genetics advances in MEN1 therapeutic approaches and management strategies Endocr Relat Cancer 24 (10) T119-T134, doi:10.1530/ERC-17-0199
    ...susceptibility genes for hereditary tumor syndromes can be informative for the identification of the genetic cause of their sporadic counterpart tumors (Marx & Simonds 2005). Indeed, somatic inactivating mutations in the MEN1 gene have been reported in sporadic tumors of the types observed in the ME ~~~
  4. Review:
    • Carole Guerin,
    • Pauline Romanet,
    • David Taieb,
    • Thierry Brue,
    • André Lacroix,
    • Frederic Sebag,
    • Anne Barlier,
    • and Frederic Castinetti
    Looking beyond the thyroid: advances in understanding of pheochromocytoma and hyperparathyroidism phenotypes in MEN2 and of non-MEN2 familial forms Endocr Relat Cancer ERC-17-0266, doi:10.1530/ERC-17-0266 first published on 5 September 2017
    ...susceptibility genes in the cohort of 747 apparently sporadic phaeochromocytoma/paraganglioma patients with clinical 748 characteristics of hereditary syndromes. Clin Endocrinol (Oxf) 79 817-823. 749 Pellegata NS, Quintanilla-Martinez L, Siggelkow H, Samson E, Bink K, Hofler H, Fend F, Graw J 750 & ~~~
  5. Research:
    • Vanessa D'Antongiovanni,
    • Serena Martinelli,
    • Susan Richter,
    • Letizia Canu,
    • Daniele Guasti,
    • Tommaso Mello,
    • Paolo Romagnoli,
    • Karel Pacak,
    • Graeme Eisenhofer,
    • Massimo Mannelli,
    • and Elena Rapizzi
    The microenvironment induces collective migration in SDHB-silenced mouse pheochromocytoma spheroids Endocr Relat Cancer 24 (10) 555-564, doi:10.1530/ERC-17-0212
    ...susceptibility genes ~~~
  6. Thematic Review:
    • Sock Hoai Chan and
    • Joanne Ngeow
    Germline mutation contribution to chromosomal instability Endocr Relat Cancer 24 (9) T33-T46, doi:10.1530/ERC-17-0062
    ...susceptibility genes Mosaic variegated aneuploidy syndrome 257300 CIN Rhabdomyosarcoma BUB1B Wilms tumor Leukemia Colon cancer Stomach cancer Premature chromatid separation syndrome 176430 CIN Seminoma BUB1B Keratoacanthoma Carcinoma in situ of uterine cervix Familial adenomatous polyposis 175100 CI ~~~
  7. Commentary:
    • Rodrigo Almeida Toledo
    New HIF2α inhibitors: potential implications as therapeutics for advanced pheochromocytomas and paragangliomas Endocr Relat Cancer 24 (9) C9-C19, doi:10.1530/ERC-16-0479 first published on 30 June 2017
    ...susceptibility genes reported to date (Jochmanová  et  al. 2013, Dahia 2014, Favier et al. 2015, Toledo et al. 2016). In addition to VHL, inactivating mutations in the SDHA/B/C/D genes, which encode the respective subunits of the succinate dehydrogenases, are also involved in PPGL predisposition and ~~~
  8. Letter to the Editor:
    • Ruth T Casey,
    • Benjamin G Challis,
    • Alison Marker,
    • Deborah Pitfield,
    • Heok K Cheow,
    • Ashley Shaw,
    • Soo-Mi Park,
    • Helen L Simpson,
    • and Eamonn R Maher
    A case of a metastatic SDHA mutated paraganglioma re-presenting twenty-three years after initial surgery Endocr Relat Cancer 24 (8) L69-L71, doi:10.1530/ERC-17-0206
    ...susceptibility genes SDHA, TMEM127, MAX, and SDHAF2 for gene-informed prevention. JAMA Oncology [in press]. (doi:10.1001/ jamaoncol.2017.0223) Benn DE, Gimenez-Roqueplo AP, Reilly JR, Bertherat J, Burgess J, Byth K, Croxson M, Dahia PL, Elston M, Gimm O, et al. 2006 Clinical presentation and penetra ~~~
    OPEN ACCESS ARTICLE
  9. Research Letter:
    • Lucie Evenepoel,
    • Raphaël Helaers,
    • Laurent Vroonen,
    • Selda Aydin,
    • Marc Hamoir,
    • Dominique Maiter,
    • Miikka Vikkula,
    • and Alexandre Persu
    KIF1B and NF1 are the most frequently mutated genes in paraganglioma and pheochromocytoma tumors Endocr Relat Cancer 24 (8) L57-L61, doi:10.1530/ERC-17-0061 first published on 17 May 2017
    ...susceptibility genes in pheochromocytoma and paraganglioma. Journal of Clinical Endocrinology and Metabolism 99 E1352–E1360. (doi:10.1210/jc.2013-4375) Received in final form 25 April 2017 Accepted 16 May 2017 Accepted Preprint published online 17 May 2017 KIF1B and NF1 are the most frequently mutat ~~~
  10. Review:
    • Anna Angelousi,
    • Georgios K Dimitriadis,
    • Georgios Zografos,
    • Svenja Nölting,
    • Gregory Kaltsas,
    • and Ashley Grossman
    Molecular targeted therapies in adrenal, pituitary and parathyroid malignancies Endocr Relat Cancer 24 (6) R239-R259, doi:10.1530/ERC-16-0542 first published on 11 April 2017
    ...susceptibility genes ~~~
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