Cargando…

Two novel and one known pathogenic germline mutations in MMRs in Chinese families with Lynch syndrome

Detalles Bibliográficos
Autores principales:	Li, Juyi, Zhu, Lin, Li, Yuanyuan, Huang, Hui, Huang, Kaiyu, Deng, Aiping
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Chongqing Medical University 2021
Materias:	Rapid Communication
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8843961/ https://www.ncbi.nlm.nih.gov/pubmed/35224146 http://dx.doi.org/10.1016/j.gendis.2021.10.006

Ejemplares similares

Absence of Germline CHK2 Mutations in Familial Gastric Cancer
por: Kimura, Kenji, et al.
Publicado: (2000)

A Novel Splice-Site Mutation in MSH2 Is Associated With the Development of Lynch Syndrome
por: Li, Juyi, et al.
Publicado: (2020)

PD‐L1, PARP1, and MMRs as potential therapeutic biomarkers for neuroendocrine cervical cancer
por: Ji, Xiaoyu, et al.
Publicado: (2021)

Identification of a novel CNV at the APC gene in a Chinese family with familial adenomatous polyposis
por: Li, Juyi, et al.
Publicado: (2023)

Germline Mutations of the PTEN/MMAC1 Gene in Japanese Patients with Cowden Disease
por: Kohno, Takashi, et al.
Publicado: (1998)

Lack of evidence for germline WWP1 pathogenic variants in gastrointestinal polyposis and other phenotypes suggestive of PTEN-hamartoma-tumor syndrome
por: Gonzalez-Abuin, Noemi, et al.
Publicado: (2023)

A germline PALB2 pathogenic variant identified in a pediatric high-grade glioma
por: Zhong, Yiming, et al.
Publicado: (2020)

Characterization of somatic mutations of colorectal tumor in a patient with concurrent APC and MLH1 germline mutations
por: Cheng, Yunsheng, et al.
Publicado: (2023)

Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region variant and known pathogenic variant in SPG11
por: Yu, Allen Chi-Shing, et al.
Publicado: (2016)

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

Coinheritance of germline mutations in APC and MUTYH genes defines the clinical outcome of adenomatous polyposis syndromes
por: Forte, Giovanna, et al.
Publicado: (2022)

Whole-Exome Sequencing Identifies Pathogenic Germline Variants in Patients with Lynch-Like Syndrome
por: dos Santos, Wellington, et al.
Publicado: (2022)

Mismatch repair–deficient glioma with spatially distinct IDH-mutant and IDH-wild type components arising in the setting of Lynch syndrome
por: Tan, Hao, et al.
Publicado: (2023)

A novel heterozygous germline deletion in MSH2 gene in a five generation Chinese family with Lynch syndrome
por: Wu, Bin, et al.
Publicado: (2017)

A heterozygous mutation in NOTCH3 in a Chinese family with CADASIL
por: Li, Juyi, et al.
Publicado: (2022)

Identification of Germline Mutations in Upper Tract Urothelial Carcinoma With Suspected Lynch Syndrome
por: Guan, Bao, et al.
Publicado: (2022)

Precision Therapy for a Chinese Family With Maturity-Onset Diabetes of the Young
por: Li, Juyi, et al.
Publicado: (2021)

Precision therapy for three Chinese families with maturity-onset diabetes of the young (MODY12)
por: Li, Juyi, et al.
Publicado: (2022)

Corrigendum: A heterozygous mutation in NOTCH3 in a Chinese family with CADASIL
por: Li, Juyi, et al.
Publicado: (2023)

A Chinese family affected by lynch syndrome caused by MLH1 mutation
por: Jia, Shuqin, et al.
Publicado: (2018)

Co‐occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome
por: Ferrer‐Avargues, Rosario, et al.
Publicado: (2021)

An MSH6 germline pathogenic variant p.Gly162Ter associated with Lynch syndrome
por: Vostrukhina, Olga A., et al.
Publicado: (2022)

Comparison analysis of multiple-omics data between female germline stem cells and spermatogonial stem cells
por: Tian, Geng G., et al.
Publicado: (2022)

MLH1 germline mutation associated with Lynch syndrome in a family followed for more than 45 years
por: Momma, Tomoyuki, et al.
Publicado: (2019)

Variations in EXD3 caused congenital cataracts in three Chinese families
por: Cao, Lihua, et al.
Publicado: (2022)

Streamlining the use of IHC in identifying germline mismatch repair mutations in Lynch syndrome
por: Rea, Gillian, et al.
Publicado: (2012)

Whole-genome sequencing identified novel mutations in a Chinese family with lynch syndrome
por: He, Wan, et al.
Publicado: (2023)

The blended phenotype of a germline RIT1 and a mosaic PIK3CA variant
por: Berland, Siren, et al.
Publicado: (2021)

Polymorphisms in the Osteopontin Are Associated with Susceptibility to Ankylosing Spondylitis in a Han Chinese Population
por: Li, Juyi, et al.
Publicado: (2018)

A novel pathogenic germline mutation in the adenomatous polyposis coli gene in a Chinese family with familial adenomatous coli
por: Jiang, Shan-Shan, et al.
Publicado: (2015)

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)

Novel germline MSH2 mutation in lynch syndrome patient surviving multiple cancers
por: Janavicius, Ramunas, et al.
Publicado: (2012)

Clinical and Molecular Assessment of Patients with Lynch Syndrome and Sarcomas Underpinning the Association with MSH2 Germline Pathogenic Variants
por: de Angelis de Carvalho, Nathália, et al.
Publicado: (2020)

Germline BRCA2 mutations detected in pediatric sequencing studies impact parents’ evaluation and care
por: Walsh, Michael F., et al.
Publicado: (2017)

Germline PRDM1 Variant rs2185379 in Long-Term Recurrence-Free Survivors of Advanced Ovarian Cancer
por: Mitamura, Takashi, et al.
Publicado: (2022)

Successful intraprocedural anticoagulation with bivalirudin during pulmonary vein isolation in a patient with known heparin-induced thrombocytopenia type II
por: Bellmann, Barbara, et al.
Publicado: (2016)

Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families
por: Huang, Lulin, et al.
Publicado: (2017)

The re-emergence of highly pathogenic avian influenza H7N9 viruses in humans in mainland China, 2019
por: Yu, Deshan, et al.
Publicado: (2019)

Familial gastrointestinal stromal tumors with KIT germline mutation in a Chinese family: A case report
por: Yuan, Wei, et al.
Publicado: (2022)

Characterization of a germline variant MSH6 c.4001G > C in a Lynch syndrome family
por: Yang, Ciyu, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_c96c4ue5acit26ha894suth5v3