Osamu Gotoh
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View article: High-risk pathogenic germline variants in blood relatives of BRCA1/2 negative probands
High-risk pathogenic germline variants in blood relatives of BRCA1/2 negative probands Open
View article: Genetic and epigenetic alterations in precursor lesions of endometrial endometrioid carcinoma
Genetic and epigenetic alterations in precursor lesions of endometrial endometrioid carcinoma Open
The hyperplasia–carcinoma sequence is a stepwise tumourigenic programme towards endometrial cancer in which normal endometrial epithelium becomes neoplastic through non‐atypical endometrial hyperplasia (NAEH) and atypical endometrial hyper…
View article: Clinical landscape of TP73 structural variants in ATL patients
Clinical landscape of TP73 structural variants in ATL patients Open
TP73, a TP53 family member, is involved in the pathogenesis of adult T-cell leukemia/lymphoma (ATL) and is regulated by the intragenic super-enhancer [1,2].We have reported that TP73 structural variants (SVs) with deletion of exons 2-3, wh…
View article: Transcriptomic Analyses of Pretreatment Tumor Biopsy Samples, Response to Neoadjuvant Chemoradiotherapy, and Survival in Patients With Advanced Rectal Cancer
Transcriptomic Analyses of Pretreatment Tumor Biopsy Samples, Response to Neoadjuvant Chemoradiotherapy, and Survival in Patients With Advanced Rectal Cancer Open
Importance Neoadjuvant chemoradiotherapy (CRT) is the standard of care for advanced rectal cancer. Yet, estimating response to CRT remains an unmet clinical challenge. Objective To investigate and better understand the transcriptomic facto…
View article: Genomic features of <i>Helicobacter pylori</i>‐naïve diffuse‐type gastric cancer
Genomic features of <i>Helicobacter pylori</i>‐naïve diffuse‐type gastric cancer Open
Helicobacter pylori (HP) is a major etiologic driver of diffuse‐type gastric cancer (DGC). However, improvements in hygiene have led to an increase in the prevalence of HP‐naïve DGC; that is, DGC that occurs independent of HP. Although mul…
View article: Mutation burden-orthogonal tumor genomic subtypes delineate responses to immune checkpoint therapy
Mutation burden-orthogonal tumor genomic subtypes delineate responses to immune checkpoint therapy Open
Background In cancer therapy, higher-resolution tumor-agnostic biomarkers that predict response to immune checkpoint inhibitor (ICI) therapy are needed. Mutation signatures reflect underlying oncogenic processes that can affect tumor immun…
View article: Genomic determinants impacting the clinical outcome of mogamulizumab treatment for adult T-cell leukemia/lymphoma
Genomic determinants impacting the clinical outcome of mogamulizumab treatment for adult T-cell leukemia/lymphoma Open
In order to identify genomic biomarkers for the outcome of mogamulizumab-containing treatment, an integrated molecular analysis of adult T-cell leukemia/lymphoma (ATL) was conducted on 64 mogamulizumab-naïve patients. Among driver genes, C…
View article: Mutation burden-orthogonal tumor genomic subtypes delineate responses to immune checkpoint therapy
Mutation burden-orthogonal tumor genomic subtypes delineate responses to immune checkpoint therapy Open
Higher-resolution tumor-agnostic biomarkers that predict response to immune checkpoint inhibitor (ICI) therapy are needed. Mutation signatures reflect underlying oncogenic processes that can affect tumor immunogenicity, and thus potentiall…
View article: Pathogenicity assessment of variants for breast cancer susceptibility genes based on BRCAness of tumor sample
Pathogenicity assessment of variants for breast cancer susceptibility genes based on BRCAness of tumor sample Open
Genes involved in the homologous recombination repair pathway—as exemplified by BRCA1 , BRCA2 , PALB2 , ATM , and CHEK2 —are frequently associated with hereditary breast and ovarian cancer syndrome. Germline mutations in the loci of these …
View article: Immunogenic characteristics of microsatellite instability‐low esophagogastric junction adenocarcinoma based on clinicopathological, molecular, immunological and survival analyses
Immunogenic characteristics of microsatellite instability‐low esophagogastric junction adenocarcinoma based on clinicopathological, molecular, immunological and survival analyses Open
Microsatellite instability (MSI) is categorized by mutation frequency: high MSI (MSI‐H), low MSI (MSI‐L) and microsatellite stable (MSS). MSI‐H tumors have a distinct immunogenic phenotype, with immunotherapies using checkpoint inhibitors …
View article: T-cell complexity and density are associated with sensitivity to neoadjuvant chemoradiotherapy in patients with rectal cancer
T-cell complexity and density are associated with sensitivity to neoadjuvant chemoradiotherapy in patients with rectal cancer Open
View article: Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome
Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome Open
Panel sequencing of susceptibility genes for hereditary breast and ovarian cancer (HBOC) syndrome has uncovered numerous germline variants; however, their pathogenic relevance and ethnic diversity remain unclear. Here, we examined the prev…
View article: Sequencing artifacts derived from a library preparation method using enzymatic fragmentation
Sequencing artifacts derived from a library preparation method using enzymatic fragmentation Open
DNA fragmentation is a fundamental step during library preparation in hybridization capture-based, short-read sequencing. Ultra-sonication has been used thus far to prepare DNA of an appropriate size, but this method is associated with a c…
View article: Datasets and metadata supporting the published article: Prevalence of Disease-Causing Genes in Japanese Patients with BRCA1/2-Wildtype Hereditary Breast and Ovarian Cancer Syndrome
Datasets and metadata supporting the published article: Prevalence of Disease-Causing Genes in Japanese Patients with BRCA1/2-Wildtype Hereditary Breast and Ovarian Cancer Syndrome Open
Panel sequencing of susceptibility genes for hereditary breast and ovarian cancer (HBOC) syndrome has uncovered numerous germline variants; however, their pathogenic relevance and ethnic diversity remain unclear.In this study, the authors …
View article: Two Distinct Tumorigenic Processes in Endometrial Endometrioid Adenocarcinoma
Two Distinct Tumorigenic Processes in Endometrial Endometrioid Adenocarcinoma Open
View article: Clinically relevant molecular subtypes and genomic alteration-independent differentiation in gynecologic carcinosarcoma
Clinically relevant molecular subtypes and genomic alteration-independent differentiation in gynecologic carcinosarcoma Open