Associated Papers
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Looking for RET alterations in thyroid cancer: clinical relevance, methodology and timing.
Elisei R et al.
Endocrine, 2023
High p16 expression and heterozygous RB1 loss are biomarkers for CDK4/6 inhibitor resistance in ER+ breast cancer.
Palafox M et al.
Nature Communications, 2022
GLOBAL ENDOCRINOLOGY: Geographical variation in the profile of RET variants in patients with medullary thyroid cancer: a comprehensive review.
Maciel RMB et al.
European Journal of Endocrinology, 2021
Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.
Williams EA et al.
Acta Neuropathologica Communications, 2020
TAPES: A tool for assessment and prioritisation in exome studies.
Xavier A et al.
Plos Computational Biology, 2019
CharGer: clinical Characterization of Germline variants.
Scott AD et al.
Bioinformatics (oxford, England), 2019
Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers.
Lebeault M et al.
Thyroid : Official Journal of the American Thyroid Association, 2017
A novel molecular diagnostics platform for somatic and germline precision oncology.
Cabanillas R et al.
Molecular Genetics & Genomic Medicine, 2017
Identification and characterization of two novel germline RET variants associated with medullary thyroid carcinoma.
Silva AL et al.
Endocrine, 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
High prevalence of exon 8 G533C mutation in apparently sporadic medullary thyroid carcinoma in Greece.
Sarika HL et al.
Clinical Endocrinology, 2012
Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting.
Crockett DK et al.
Genome Medicine, 2012
The RET p.G533C mutation confers predisposition to multiple endocrine neoplasia type 2A in a Brazilian kindred and is able to induce a malignant phenotype in vitro and in vivo.
Oliveira MN et al.
Thyroid : Official Journal of the American Thyroid Association, 2011
Predicting phenotypic severity of uncertain gene variants in the RET proto-oncogene.
Crockett DK et al.
Plos One, 2011
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