Cargando…

Characterization of somatic mutations of colorectal tumor in a patient with concurrent APC and MLH1 germline mutations

Detalles Bibliográficos
Autores principales:	Cheng, Yunsheng, Xu, Yanyan, Zhang, Xiaopeng, Qi, Jian, Wang, Jialiang, Liu, Yanzhe, Wan, Kun, Liu, YanWei, Yu, Liang, Wang, Hongzhi, Nie, Jinfu, Hong, Bo, Wang, Yong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Chongqing Medical University 2023
Materias:	Rapid Communication
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10404972/ https://www.ncbi.nlm.nih.gov/pubmed/37554185 http://dx.doi.org/10.1016/j.gendis.2023.02.017

Ejemplares similares

Somatic Mutation of the APC Gene in Thyroid Carcinoma Associated with Familial Adenomatous Polyposis
por: Iwama, Takeo, et al.
Publicado: (1999)

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

First-decade patient with colorectal cancer carrying both germline and somatic mutations in APC gene
por: Yeh, Yung-Sung, et al.
Publicado: (2017)

Pancreatic Cancer with Mutation in BRCA1/2, MLH1, and APC Genes: Phenotype Correlation and Detection of a Novel Germline BRCA2 Mutation
por: Vietri, Maria Teresa, et al.
Publicado: (2022)

The Somatic Mutation Hit on Top of Genetic APC mutations Cause Skin Tumor()
por: Niu, Ting, et al.
Publicado: (2019)

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

Concurrent Germline and Somatic Mutations in FLCN and Preliminary Exploration of Its Function: A Case Report
por: Wang, Tao, et al.
Publicado: (2022)

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

Infrequent Somatic Mutation of the MTS1 Gene in Primary Bladder Carcinomas
por: Kai, Mikio, et al.
Publicado: (1995)

Heterozygous APC germline mutations impart predisposition to colorectal cancer
por: Preisler, Livia, et al.
Publicado: (2021)

Prevalence of Pathological Germline Mutations of hMLH1 and hMSH2 Genes in Colorectal Cancer
por: Li, Dandan, et al.
Publicado: (2013)

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

Two novel and one known pathogenic germline mutations in MMRs in Chinese families with Lynch syndrome
por: Li, Juyi, et al.
Publicado: (2021)

Case Report: Coinheritance of Germline Mutations in APC and BRCA1 in Colorectal Cancer
por: Huang, Wei, et al.
Publicado: (2021)

Sporadic adamantinomatous craniopharyngioma with double-hit somatic APC mutations
por: Hong, Christopher S, et al.
Publicado: (2021)

The dysfunctional Wnt pathway down-regulates MLH1/SET expression and promotes microsatellite instability and immunotherapy response in colorectal cancer
por: Wang, Jiyan, et al.
Publicado: (2023)

Lynch syndrome-associated endometrial carcinoma with MLH1 germline mutation and MLH1 promoter hypermethylation: a case report and literature review
por: Yokoyama, Takanori, et al.
Publicado: (2018)

NFB-06. TREATMENT CHALLENGES IN PEDIATRIC GLIOBLASTOMA MULTIFORME WITH CONCURRENT SOMATIC AND GERMLINE NF1 MUTATIONS WITH GERMLINE MISMATCH REPAIR MUTATIONS: TWO UNIQUE CASES
por: Baig, Muhammed, et al.
Publicado: (2020)

Joint genotype inference with germline and somatic mutations
por: Bareke, Eric, et al.
Publicado: (2013)

NRAS germline variant G138R and multiple rare somatic mutations on APC in colorectal cancer patients in Taiwan by next generation sequencing
por: Chang, Pi-Yueh, et al.
Publicado: (2016)

Somatic mosaicism by a de novo MLH1 mutation as a cause of Lynch syndrome
por: Geurts‐Giele, Willemina R., et al.
Publicado: (2019)

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)

A Mononucleotide Markers Panel to Identify hMLH1/hMSH2 Germline Mutations
por: Pedroni, M., et al.
Publicado: (2007)

A novel germline MLH1 mutation causing Lynch Syndrome in patients from the Republic of Macedonia
por: Hiljadnikova-Bajro, Marija, et al.
Publicado: (2012)

The frequency of somatic mutations in cancer predicts the phenotypic relevance of germline mutations
por: Draetta, Edoardo Luigi, et al.
Publicado: (2023)

Genomic landscape of pathogenic mutation of APC, KRAS, TP53, PIK3CA, and MLH1 in Indonesian colorectal cancer
por: Marbun, Vania Myralda Giamour, et al.
Publicado: (2022)

A Novel Somatic Point Mutation of the RET Proto‐oncogene in Tumor Tissues of Small Cell Lung Cancer Patients
por: Futami, Hitoyasu, et al.
Publicado: (1995)

Isolated MLH1 Loss by Immunohistochemistry Because of Benign Germline MLH1 Polymorphisms
por: Bosch, Dustin E., et al.
Publicado: (2022)

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

Germline and somatic mtDNA mutations in mouse aging
por: Ma, Hong, et al.
Publicado: (2018)

RASopathies: From germline mutations to somatic and multigenic diseases
por: Riller, Quentin, et al.
Publicado: (2021)

Germline and Somatic mutations in postmenopausal breast cancer patients
por: Nagy, Tauana Rodrigues, et al.
Publicado: (2021)

Frequent Somatic Mutations of the APC and p53 Genes in Sporadic Ampullary Carcinomas
por: Imai, Yasuo, et al.
Publicado: (1997)

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

Recurrent somatic mutations and low germline predisposition mutations in Korean ALL patients
por: Shin, Sang-Yong, et al.
Publicado: (2021)

Germline PALB2 Mutations in Cancers and Its Distinction From Somatic PALB2 Mutations in Breast Cancers
por: Hu, Zhe-Yu, et al.
Publicado: (2020)

Cloning of the Rat Homologue of the von Hippel‐Lindau Tumor Suppressor Gene and Its Non‐somatic Mutation in Rat Renal Cell Carcinomas
por: Kikuchi, Yasushi, et al.
Publicado: (1995)

SNVSniffer: an integrated caller for germline and somatic single-nucleotide and indel mutations
por: Liu, Yongchao, et al.
Publicado: (2016)

Somatic mutational profiles and germline polygenic risk scores in human cancer
por: Liu, Yuxi, et al.
Publicado: (2022)

Biallelic mutations in UGDH cause congenital microcephaly
por: Shu, Li, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_6cjc9rjh8qd6nt9n7lgpuvtj8b