Cargando…

Spectrum of Germline RET variants identified by targeted sequencing and associated Multiple Endocrine Neoplasia type 2 susceptibility in China

BACKGROUND: Germline RET mutations and variants are involved in development of multiple endocrine neoplasia type 2 (MEN2). The present study investigated a spectrum of RET variants, analyzed genotype-phenotype relationships, and evaluated their effect on the MEN2 phenotype in Han Chinese patients. M...

Descripción completa

Detalles Bibliográficos
Autores principales:	Qi, Xiao-Ping, Zhao, Jian-Qiang, Fang, Xu-Dong, Lian, Bi-Jun, Li, Feng, Wang, Hui-Hong, Cao, Zhi-Lie, Zheng, Wei-Hui, Cao, Juan, Chen, Yu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8028819/ https://www.ncbi.nlm.nih.gov/pubmed/33827484 http://dx.doi.org/10.1186/s12885-021-08116-9

Ejemplares similares

Germline RET Leu56Met Variant Is Likely Not Causative of Multiple Endocrine Neoplasia Type 2
por: Hansen, Anna Reimer, et al.
Publicado: (2021)

SAT561 Pathogenic RET V804M Germline Variant Without Clinical Manifestations Of Multiple Endocrine Neoplasia Type 2 In An Elderly Male
por: Ghosh, Raisa, et al.
Publicado: (2023)

RET Germline Mutations Identified by Exome Sequencing in a Chinese Multiple Endocrine Neoplasia Type 2A/Familial Medullary Thyroid Carcinoma Family
por: Qi, Xiao-Ping, et al.
Publicado: (2011)

Positive Germline Selection in Pedigrees With Multiple Endocrine Neoplasia Type 2 Carrying V804M Mutation in the RET Gene
por: Peddareddygari, Leema Reddy, et al.
Publicado: (2016)

Germline BRCA1 Mutation Detected in a Multiple Endocrine Neoplasia Type 2 Case With RET Codon 634 Mutation
por: Sarkadi, Balázs, et al.
Publicado: (2019)

Features of Multiple Endocrine Neoplasia Type 1 and 2A in a Patient with Both RET and MEN1 Germline Mutations
por: Brown, Spandana J, et al.
Publicado: (2020)

Multiple endocrine neoplasias type 2B and RET proto-oncogene
por: Martucciello, Giuseppe, et al.
Publicado: (2012)

Molecular mechanisms of RET receptor-mediated oncogenesis in multiple endocrine neoplasia 2
por: Wagner, Simona M., et al.
Publicado: (2012)

Active Surveillance in RET Gene Carriers Belonging to Families with Multiple Endocrine Neoplasia
por: Prete, Alessandro, et al.
Publicado: (2021)

Multiple endocrine neoplasia 2A with RET mutation p.Cys611Tyr: A case report
por: Li, Yan, et al.
Publicado: (2021)

Case report: Two sisters with a germline CHEK2 variant and distinct endocrine neoplasias
por: Vallera, Raphaelle D., et al.
Publicado: (2022)

The synergy of germline C634Y and V292M RET mutations in a northern Chinese family with multiple endocrine neoplasia type 2A
por: Yang, Zheng, et al.
Publicado: (2020)

Clinical features and signaling effects of RET D631Y variant multiple endocrine neoplasia type 2 (MEN2)
por: Lee, Ji-young, et al.
Publicado: (2022)

Distribution of RET Mutations in Multiple Endocrine Neoplasia 2 in Denmark 1994–2014: A Nationwide Study
por: Mathiesen, Jes Sloth, et al.
Publicado: (2017)

Different RET gene mutation-induced multiple endocrine neoplasia type 2A in 3 Chinese families
por: Liu, Qiuli, et al.
Publicado: (2017)

A large Chinese pedigree of multiple endocrine neoplasia type 2A with a novel C634Y/D707E germline mutation in RET exon 11
por: Lu, Fanqian, et al.
Publicado: (2017)

Two Germline Missense Mutations at Codons 804 and 806 of the RET Proto‐oncogene in the Same Allele in a Patient with Multiple Endocrine Neoplasia Type 2B without Codon 918 Mutation
por: Miyauchi, Akira, et al.
Publicado: (1999)

Rare manifestation of multiple endocrine neoplasia type 2A & cutaneous lichen amyloidosis in a family with RET gene mutation
por: Birla, Shweta, et al.
Publicado: (2014)

RET codon 618 mutations in Saudi families with multiple endocrine neoplasia Type 2A and familial medullary thyroid carcinoma
por: Qari, Faiza
Publicado: (2013)

Germline Mutations of the MEN1 Gene in Japanese Kindred with Multiple Endocrine Neoplasia Type 1
por: Shimizu, Satoko, et al.
Publicado: (1997)

Multiple endocrine neoplasia type 1: a new germline “homozygous” variant (c.201delC) caused by detection errors
por: Zhang, Fan, et al.
Publicado: (2022)

RET T244I Germline Variant Mutation in a Patient with Pancreatic Paraganglioma and Primary Hyperparathyroidism
por: Kim, Minha, et al.
Publicado: (2022)

Germ Line Mutations of the ret Proto‐oncogene in Japanese Patients with Multiple Endocrine Neoplasia Type 2A and Type 2B
por: Maruyama, Shoichi, et al.
Publicado: (1994)

Multiple Endocrine Neoplasia
por: Heath, David
Publicado: (1998)

RF27 | LBSUN362 Germline CDKN1B Variants Type And Site Are Associated With Specific Phenotype In Multiple Endocrine Neoplasia 4
por: Halperin, Reut, et al.
Publicado: (2022)

Case report for an adolescent with germline RET mutation and alveolar rhabdomyosarcoma
por: Crawford, Kenneth A., et al.
Publicado: (2020)

Functional impact of a germline RET mutation in alveolar rhabdomyosarcoma
por: Berlow, Noah E., et al.
Publicado: (2021)

Twenty-Five Years Experience on RET Genetic Screening on Hereditary MTC: An Update on The Prevalence of Germline RET Mutations
por: Elisei, Rossella, et al.
Publicado: (2019)

ER-positive breast cancer cells are poised for RET-mediated endocrine resistance
por: Horibata, Sachi, et al.
Publicado: (2018)

A Large Germline Deletion of the MEN1 Gene in a Family with Multiple Endocrine Neoplasia Type 1
por: Kishi, Mari, et al.
Publicado: (1998)

Long-term Clinicopathological Features of a Family with Multiple Endocrine Neoplasia Type 2A Caused by C634R RET Gene Mutation
por: Prabhu, Meghana, et al.
Publicado: (2020)

RET signaling pathway and RET inhibitors in human cancer
por: Regua, Angelina T., et al.
Publicado: (2022)

MON-335 Phenocopy of Multiple Endocrine Neoplasia Type 1 (MEN1) Due to a Germline Cell Division Cycle 73 (CDC73) Variant
por: Lines, Kate, et al.
Publicado: (2019)

Germline and somatic genetic changes in multicentric tumors obtained from a patient with multiple endocrine neoplasia type 1
por: Naruoka, Akane, et al.
Publicado: (2017)

THU613 Multiple Endocrine Neoplasia Type 5 Associated With Germline Max Mutations—New Insights Into This Proposed Entity
por: Charoenngam, Nipith, et al.
Publicado: (2023)

TSC2 rare germline variants in non-tuberous sclerosis patients with neuroendocrine neoplasias
por: Asprino, Paula Fontes, et al.
Publicado: (2017)

Multiple endocrine neoplasia type 2
por: Marini, Francesca, et al.
Publicado: (2006)

Multiple endocrine neoplasia type 1
por: Marini, Francesca, et al.
Publicado: (2006)

The Hirschsprung's–multiple endocrine neoplasia connection
por: Moore, Sam W., et al.
Publicado: (2012)

Multiple endocrine neoplasia: the Chilean experience
por: Diaz, René E., et al.
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_vs43uc5hunoa9j1ehfsffaec9n