Associated Papers
Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.
Gusakova M et al.
Frontiers in Oncology, 2024
Looking for RET alterations in thyroid cancer: clinical relevance, methodology and timing.
Elisei R et al.
Endocrine, 2023
Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.
Cong PK et al.
Clinical and Translational Medicine, 2022
Genomic profiling of Chinese patients with urothelial carcinoma.
Yang B et al.
Bmc Cancer, 2021
Germline RET variants underlie a subset of paediatric osteosarcoma.
Kovac M et al.
Journal of Medical Genetics, 2021
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.
Yehia L et al.
Plos Genetics, 2018
Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals.
Yamaguchi-Kabata Y et al.
Journal of Human Genetics, 2018
Exome sequencing of osteosarcoma reveals mutation signatures reminiscent of BRCA deficiency.
Kovac M et al.
Nature Communications, 2015
Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility.
Toledo RA et al.
Endocrine-related Cancer, 2015
Multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma: an update.
Wells SA et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
The optimal range of RET mutations to be tested: European comments to the guidelines of the American Thyroid Association.
Fugazzola L et al.
Thyroid Research, 2013
Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting.
Crockett DK et al.
Genome Medicine, 2012
Hirschsprung's disease and medullary thyroid carcinoma: 15-year experience with molecular genetic screening of the RET proto-oncogene.
Vaclavikova E et al.
Pediatric Surgery International, 2012
Predicting phenotypic severity of uncertain gene variants in the RET proto-oncogene.
Crockett DK et al.
Plos One, 2011
RET codon 804 mutations in multiple endocrine neoplasia 2: genotype-phenotype correlations and implications in clinical management.
Mukherjee S et al.
Clinical Genetics, 2011
RET germline mutations identified by exome sequencing in a Chinese multiple endocrine neoplasia type 2A/familial medullary thyroid carcinoma family.
Qi XP et al.
Plos One, 2011
Medullary thyroid carcinoma.
Pacini F et al.
Clinical Oncology (royal College of Radiologists (great Britain)), 2010
Multiple endocrine neoplasia type 2.
Wohllk N et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2010
Four novel RET germline variants in exons 8 and 11 display an oncogenic potential in vitro.
Muzza M et al.
European Journal of Endocrinology, 2010
Medullary thyroid cancer: management guidelines of the American Thyroid Association.
Kloos RT et al.
Thyroid : Official Journal of the American Thyroid Association, 2009
RET as a diagnostic and therapeutic target in sporadic and hereditary endocrine tumors.
de Groot JW et al.
Endocrine Reviews, 2006
Exon 5 of the RET proto-oncogene: a newly detected risk exon for familial medullary thyroid carcinoma, a novel germ-line mutation Gly321Arg.
Dvorakova S et al.
Journal of Endocrinological Investigation, 2005
Pediatric Medullary Thyroid Carcinoma.
Starenki D et al.
Journal of Pediatric Oncology, 0
Genetic testing in multiple endocrine neoplasia and related syndromes.
Calender A
Forum (genoa, Italy), 0