Associated Papers
BRAF mutations and targeted therapy in unclassified pericytic tumors: insights from genetic analysis and clinical response.
Golan H et al.
Bmc Cancer, 2025
Alignment-free unique molecular identifier clustering suppresses sequencing errors for accurate detection of low-frequency DNA variants.
Yu F et al.
Briefings in Bioinformatics, 2025
Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.
Yu J et al.
Frontiers in Oncology, 2025
Base-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid.
Sangiorgi E et al.
Genes, 2023
Molecular Basis and Natural History of Medullary Thyroid Cancer: It is (Almost) All in the RET.
Sahakian N et al.
Cancers, 2023
Maternal Vitamin A Status as a Risk Factor of Hirschsprung Disease in the Child.
Hegde SG et al.
Clinical and Translational Gastroenterology, 2023
Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.
Sather CL et al.
Cancer Medicine, 2023
Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.
Kleo K et al.
Journal of Cancer Research and Clinical Oncology, 2023
Distribution of RET proto-oncogene variants in children with appendicitis.
Schultz J et al.
Molecular Genetics & Genomic Medicine, 2022
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.
Fu W et al.
Bmc Medical Genomics, 2021
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
von Stedingk K et al.
Scientific Reports, 2021
Patient-derived organoids and orthotopic xenografts of primary and recurrent gliomas represent relevant patient avatars for precision oncology.
Golebiewska A et al.
Acta Neuropathologica, 2020
A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.
García-Cárdenas JM et al.
Journal of Medical Case Reports, 2020
Plasma DNA as a "liquid biopsy" incompletely complements tumor biopsy for identification of mutations in a case series of four patients with oligometastatic breast cancer.
Chamberlin MD et al.
Breast Cancer Research and Treatment, 2020
Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.
Wu N et al.
Journal of Cellular and Molecular Medicine, 2020
Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.
Jungwirth G et al.
Acta Neuropathologica Communications, 2019
Deleterious Mutations in DNA Repair Gene FANCC Exist in BRCA1/2-Negative Chinese Familial Breast and/or Ovarian Cancer Patients.
Pan ZW et al.
Frontiers in Oncology, 2019
The RET C611Y mutation causes MEN 2A and associated cutaneous
Qi XP et al.
Endocrine Connections, 2018
Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity.
Suarez-Kelly LP et al.
Cold Spring Harbor Molecular Case Studies, 2018
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.
Soukupova J et al.
Plos One, 2018
Genetic diagnosis of a Chinese multiple endocrine neoplasia type 2A family through whole genome sequencing.
DU ZF et al.
Journal of Biosciences, 2017
A Novel Inherited Mutation in PRKAR1A Abrogates PreRNA Splicing in a Carney Complex Family.
Sun Y et al.
The Canadian Journal of Cardiology, 2015
RET mutation p.S891A in a Chinese family with familial medullary thyroid carcinoma and associated cutaneous amyloidosis binding OSMR variant p.G513D.
Qi XP et al.
Oncotarget, 2015
CDH1 germ-line missense mutation identified by multigene sequencing in a family with no history of diffuse gastric cancer.
Lajus TB et al.
Gene, 2015
Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.
Shankar GM et al.
Acta Neuropathologica Communications, 2014
The rare intracellular RET mutation p.S891A in a Chinese Han family with familial medullary thyroid carcinoma.
Qi XP et al.
Journal of Biosciences, 2014
A MEN2A family with two asymptomatic carriers affected by unilateral renal agenesis.
Hibi Y et al.
Endocrine Journal, 2014
[Clinical diagnosis and treatment of familial medullary thyroid carcinoma caused by a p.C618Y RET proto-oncogene mutation in a Chinese pedigree].
Zhao JQ et al.
Zhonghua Yi Xue Za Zhi, 2013
Case report: a p.C618S RET proto-oncogene germline mutation in a large Chinese pedigree with familial medullary thyroid carcinoma.
Qi XP et al.
Familial Cancer, 2012