Cargando…

Molecular profiling and sequential somatic mutation shift in hypermutator tumours harbouring POLE mutations

Defective DNA polymerase ε (POLE) proofreading leads to extensive somatic mutations that exhibit biased mutational properties; however, the characteristics of POLE-mutated tumours remain unclear. In the present study, we describe a molecular profile using whole exome sequencing based on the transiti...

Descripción completa

Detalles Bibliográficos
Autores principales:	Hatakeyama, Keiichi, Ohshima, Keiichi, Nagashima, Takeshi, Ohnami, Shumpei, Ohnami, Sumiko, Serizawa, Masakuni, Shimoda, Yuji, Maruyama, Koji, Akiyama, Yasuto, Urakami, Kenichi, Kusuhara, Masatoshi, Mochizuki, Tohru, Yamaguchi, Ken
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2018
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992218/ https://www.ncbi.nlm.nih.gov/pubmed/29880869 http://dx.doi.org/10.1038/s41598-018-26967-4

Ejemplares similares

Mutational burden and signatures in 4000 Japanese cancers provide insights into tumorigenesis and response to therapy
por: Hatakeyama, Keiichi, et al.
Publicado: (2019)

Comprehensive characterization of genes associated with the TP53 signal transduction pathway in various tumors
por: Ohnami, Shumpei, et al.
Publicado: (2017)

Characterization of tumors with ultralow tumor mutational burden in Japanese cancer patients
por: Hatakeyama, Keiichi, et al.
Publicado: (2020)

Integrated analysis of gene expression and copy number identified potential cancer driver genes with amplification-dependent overexpression in 1,454 solid tumors
por: Ohshima, Keiichi, et al.
Publicado: (2017)

Mutational concordance analysis provides supportive information for double cancer diagnosis
por: Hatakeyama, Keiichi, et al.
Publicado: (2021)

Driver gene alterations and activated signaling pathways toward malignant progression of gastrointestinal stromal tumors
por: Ohshima, Keiichi, et al.
Publicado: (2019)

JCGA: the Japanese version of the Cancer Genome Atlas and its contribution to the interpretation of gene alterations detected in clinical cancer genome sequencing
por: Serizawa, Masakuni, et al.
Publicado: (2021)

Whole-genome and Epigenomic Landscapes of Malignant Gastrointestinal Stromal Tumors Harboring KIT Exon 11 557–558 Deletion Mutations
por: Ohshima, Keiichi, et al.
Publicado: (2023)

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)

BMP4 and PHLDA1 are plausible drug-targetable candidate genes for KRAS G12A-, G12D-, and G12V-driven colorectal cancer
por: Ohnami, Shumpei, et al.
Publicado: (2021)

Comparison of genetic susceptibility to lung adenocarcinoma and squamous cell carcinoma in Japanese patients using a novel panel for cancer-related drug-metabolizing enzyme genes
por: Ohnami, Sumiko, et al.
Publicado: (2022)

Overview and clinical significance of multiple mutations in individual genes in hepatocellular carcinoma
por: Imamura, Taisuke, et al.
Publicado: (2022)

Japanese version of The Cancer Genome Atlas, JCGA, established using fresh frozen tumors obtained from 5143 cancer patients
por: Nagashima, Takeshi, et al.
Publicado: (2020)

Tumor cell enrichment by tissue suspension enables detection of mutations with low variant allele frequency and estimation of germline mutations
por: Hatakeyama, Keiichi, et al.
Publicado: (2022)

Clinicopathological and mutational analyses of colorectal cancer with mutations in the POLE gene
por: Hino, Hitoshi, et al.
Publicado: (2019)

Hepatocellular carcinoma after a sustained virological response by direct‐acting antivirals harbors TP53 inactivation
por: Imamura, Taisuke, et al.
Publicado: (2022)

Whole exome sequencing and deep sequencing of esophageal squamous cell carcinoma and adenocarcinoma in Japanese patients using the Japanese version of the Genome Atlas, JCGA
por: Booka, Eisuke, et al.
Publicado: (2021)

Characterization of tumour mutation burden in patients with non‐small cell lung cancer and interstitial lung disease
por: Kobayashi, Haruki, et al.
Publicado: (2019)

Assessment of associations between clinical and immune microenvironmental factors and tumor mutation burden in resected nonsmall cell lung cancer by applying machine learning to whole‐slide images
por: Ono, Akira, et al.
Publicado: (2020)

Characterization of pancreatic cancer with ultra-low tumor mutational burden
por: Imamura, Taisuke, et al.
Publicado: (2023)

Germline mismatch repair gene variants analyzed by universal sequencing in Japanese cancer patients
por: Kiyozumi, Yoshimi, et al.
Publicado: (2019)

Genomic landscape of pancreatic cancer in the Japanese version of the Cancer Genome Atlas
por: Imamura, Taisuke, et al.
Publicado: (2022)

Immune checkpoint inhibitor in recurrent hypermutated glioblastoma with POLE mutation
por: Sathornsumetee, Sith, et al.
Publicado: (2021)

Molecular genetic positioning of small intestine and papilla of Vater carcinomas including clinicopathological classification
por: Nakamura, Masanori, et al.
Publicado: (2023)

A novel MLH1 intronic variant in a young Japanese patient with Lynch syndrome
por: Kiyozumi, Yoshimi, et al.
Publicado: (2018)

High prevalence of unusual KRAS, NRAS, and BRAF mutations in POLE ‐ hypermutated colorectal cancers
por: Favre, Loetitia, et al.
Publicado: (2022)

Characterization of rare histological subtypes of ovarian cancer based on molecular profiling
por: Takahashi, Nobutaka, et al.
Publicado: (2022)

Germline POLE mutation in a child with hypermutated medulloblastoma and features of constitutional mismatch repair deficiency
por: Lindsay, Holly, et al.
Publicado: (2019)

Frequent POLE-driven hypermutation in ovarian endometrioid cancer revealed by mutational signatures in RNA sequencing
por: Davila, Jaime I., et al.
Publicado: (2021)

A Primary Intraosseous Meningioma: A Rare Case of Malignancy with High Proliferative Ability
por: Sato, Yoshiki, et al.
Publicado: (2023)

Placenta-specific novel splice variants of Rho GDP dissociation inhibitor β are highly expressed in cancerous cells
por: Hatakeyama, Keiichi, et al.
Publicado: (2012)

Novel protein isoforms of carcinoembryonic antigen are secreted from pancreatic, gastric and colorectal cancer cells
por: Hatakeyama, Keiichi, et al.
Publicado: (2013)

Metachronous ovarian endometrioid carcinomas in a patient with a PTEN variant: case report of incidentally detected Cowden syndrome
por: Matsubayashi, Hiroyuki, et al.
Publicado: (2019)

Effect of preoperative chemoradiotherapy on the immunological status of rectal cancer patients
por: Yasui, Kazuaki, et al.
Publicado: (2020)

Development of Peritoneal Tumor-Targeting Vector by In Vivo Screening with a Random Peptide-Displaying Adenovirus Library
por: Nishimoto, Takeshi, et al.
Publicado: (2012)

Report of two patients in whom comparisons of the somatic mutation profile were useful for the diagnosis of metastatic tumors
por: Furukawa, Kenichiro, et al.
Publicado: (2022)

Sharing genetic test results of germline pathogenic variants of hereditary cancer with relatives: A single-center cross-sectional study
por: Fukuzaki, Naomi, et al.
Publicado: (2021)

Mutating for Good: DNA Damage Responses During Somatic Hypermutation
por: Pilzecker, Bas, et al.
Publicado: (2019)

The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy
por: Ahn, Sung-Min, et al.
Publicado: (2016)

The down-regulation of the CYP2C19 gene is associated with aggressive tumor potential and the poorer recurrence-free survival of hepatocellular carcinoma
por: Ashida, Ryo, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_t95n8agnmf3a4lc2ef4d8os0r9