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- 資料種別
- 記事
- 著者標目
- モモザワ, ユキヒデ モモザワ, ユキヒデイワサキ, ユウスケ イワサキ, ユウスケカマタニ, ヨウイチロウ カマタニ, ヨウイチロウタカハシ, アツシ タカハシ, アツシタムラ, チエコ タムラ, チエコ片桐, 豊雅 カタギリ, トヨマサヨシダ, テルヒコ ヨシダ, テルヒコナカムラ, セイゴ ナカムラ, セイゴスガノ, コウキチ スガノ, コウキチミキ, ヨシオ ミキ, ヨシオヒラタ, マコト ヒラタ, マコトマツダ, コウイチ マツダ, コウイチクボ, ミチアキ クボ, ミチアキ
- 出版年月日等
- 2018-10-04
- 出版年（W3CDTF）
- 2018-10-04
- タイトル（掲載誌）
- Nature Communications
- 巻号年月日等（掲載誌）
- 9
- 掲載巻
- 9
- 掲載ページ
- 4083-
- 掲載年月日（W3CDTF）
- 2018-10-04
- ISSN（掲載誌）
- 20411723
- 出版事項（掲載誌）
- Springer Nature
- 本文の言語コード
- en
- 件名標目
- 対象利用者
- 一般
- 標準番号（その他）
- PMID : 30287823
- DOI
- 10.1038/s41467-018-06581-8
- オンライン閲覧公開範囲
- インターネット公開
- 著作権情報
- This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. © The Author(s) 2018
- 関連情報（URI）
- 参照
- Optimization of prediction methods for risk assessment of pathogenic germline variants in the Japanese populationSimultaneous bilateral mastectomy and RRSO for BRCA2-positive non-invasive breast cancer in Japan: a case report and analysis of initial experienceGenetic and clinical landscape of breast cancers with germline BRCA1/2 variantsATM suppresses c-Myc overexpression in the mammary epithelium in response to estrogenConsolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH GuidePopulation-based Screening for Hereditary Colorectal Cancer Variants in JapanDefined lifestyle and germline factors predispose Asian populations to gastric cancerPrevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndromeDisclosure of secondary findings in exome sequencing of 2480 Japanese cancer patientsGermline DNA damage repair gene mutations in pancreatic cancer patients with personal/family histories of pancreas/breast/ovarian/prostate cancer in a Japanese populationHereditary gynecologic tumors and precision cancer medicine<scp><i>Brca1</i><sup>L63X</sup></scp><sup>/+</sup> rat is a novel model of human <i>BRCA1</i> deficiency displaying susceptibility to radiation‐induced mammary cancerHigh-Throughput Functional Evaluation of <i>BRCA2</i> Variants of Unknown SignificanceConcomitant cancer surgery and risk-reducing surgery for noninvasive breast cancer diagnosed during surveillance for undiagnosed hereditary breast and ovarian cancer (HBOC) syndrome: A case reportNovel candidates of pathogenic variants of the <i>BRCA1</i> and <i>BRCA2</i> genes in a 3,552 Japanese whole-genome sequence dataset (3.5KJPNv2)Heterozygous mutation in BRCA2 induces accelerated age-dependent decline in sperm quality with male subfertility in ratsCase series of Li-Fraumeni syndrome: carcinogenic mechanisms in breast cancer with TP53 pathogenic variant carriersHigh-throughput functional evaluation of BRCA2 variants of unknown significanceGenetic characterization of pancreatic cancer patients and prediction of carrier status of germline pathogenic variants in cancer-predisposing genesPathogenicity assessment of variants for breast cancer susceptibility genes based on BRCAness of tumor sampleThe pathogenic role of the <i>BRCA2</i> c.<scp>7847C</scp>>T (p.Ser2616Phe) variant in breast and ovarian cancer predispositionPathogenic Germline Variants in BRCA1/2 and p53 Identified by Real-world Comprehensive Cancer Genome Profiling Tests in Asian PatientsFunctional evaluation of BRCA1/2 variants of unknown significance with homologous recombination assay and integrative in silico prediction modelGermline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 ControlsPredictive and prognostic significance of BRCAness in HER2-negative breast cancerA male with primary accessory breast carcinoma in an axilla is strongly suspected of having hereditary breast cancerPrevalence and risk estimation of cancer-predisposing genes for upper urinary tract urothelial carcinoma in JapaneseThe frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese populationAssessing the efficacy of target adaptive sampling long-read sequencing through hereditary cancer patient genomesCancer and disease profiles for PTEN pathogenic variants in Japanese populationPrevalence and Spectrum of Pathogenic Germline Variants in Japanese Patients With Early-Onset Colorectal, Breast, and Prostate CancerNovel candidates of pathogenic variants of the BRCA1 and BRCA2 genes from a dataset of 3,552 Japanese whole genomes (3.5KJPNv2)Expansion of Cancer Risk Profile for <i>BRCA1</i> and <i>BRCA2</i> Pathogenic VariantsAssociation between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC studyPrognostic significance of pathogenic variants in BRCA1, BRCA2, ATM and PALB2 genes in men undergoing hormonal therapy for advanced prostate cancerDevelopment and validation of genome-wide polygenic risk scores for predicting breast cancer incidence in Japanese females: a population-based case-cohort studyHereditary cancer variants and homologous recombination deficiency in biliary tract cancerCurrent status of hereditary breast and ovarian cancer practice among gynecologic oncologists in Japan: a nationwide survey by the Japan Society of Gynecologic Oncology (JSGO)Real-World Clinical Outcomes of Treatment With Olaparib for BRCA1/2 Mutation-Positive Metastatic Breast Cancer in Japanese PatientsGermline Pathogenic Variants and Clinical Outcomes in Asian Patients With Breast CancerReturning genetic risk information for hereditary cancers to participants in a population-based cohort study in JapanUpdate on next generation sequencing of pharmacokinetics-related genes: Development of the PKseq panel, a platform for amplicon sequencing of drug-metabolizing enzyme and drug transporter genes乳がんの治療と最近の傾向がん未発症者への遺伝子変異に基づく個別化検診の現状と課題検診の継続のために必要なケアとサポート乳癌を契機に診断されたLi-Fraumeni症候群の1例HBOC 未発症変異保持者の乳がん検診とサポート体制Advances in Risk Management and Screening for Women at Increased Risk of Breast Cancer: The Role of MR Imaging and Personalised Approaches遺伝性乳癌卵巣癌をめぐる最新の動向Recent Advances in the Treatment of Hereditary Breast and Ovarian Cancer in Japan - Elucidation of Clinical and Pathological Characteristics, Establishment of a Nation-wide Registration System, and Improvement of Clinical Practice -二次・三次治療でオラパリブの著効をみたHER2陰性再発乳癌の2例Lessons Learned in Practice with Li-Fraumeni Syndrome: LFS-Related Breast Cancer Treatment Strategy and Establishment of a Surveillance System当院でのがん未発症BRCA1/2病的バリアント保持者への対応経験とこれからの課題両側多発乳腺腫瘍様病変に両側性乳癌が混在したCowden症候群の1例HBOC 診断による心理面・身体面への影響がん未発症者に対するチャットボット（AI問診）を用いた遺伝性腫瘍のリスク評価The potential of translational research in dogs in human medicine遺伝性乳癌―遺伝性疾患としての意義とコンパニオン診断としての意義を考える―乳癌易罹患性遺伝性腫瘍診療の基本遺伝関連ドックの現状と未来A Retrospective Analysis of Clinical Biomarkers for Olaparib Maintenance Therapy in Patients with Recurrent Ovarian Cancer<i>BRCA1/2</i>遺伝学的検査保険適用拡大後の検査施行症例の検討と今後の課題がん遺伝子パネル検査の二次的所見として生殖細胞系列に<I>BRCA1</I>病的バリアントが検出された盲腸癌同時性多発肝転移の1例がんゲノム解析技術の進化と臨床応用―次世代シークエンサーによる脊髄腫瘍へのがん治療の新展開―オラパリブが7年著効しリスク低減卵管卵巣切除術を行った再発乳癌の1例<i>BRCA2</i> Reversion Mutation after Neoadjuvant Dose-Dense EC and Dose-Dense Paclitaxel in Triple-Negative Breast Cancer: A Case Report and Literature Review
- 参照
- Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individualsSettling the score: variant prioritization and Mendelian diseaseA Note on Exact Tests of Hardy-Weinberg EquilibriumClinVar: public archive of interpretations of clinically relevant variantsAnalysis of protein-coding genetic variation in 60,706 humansA practical method to detect SNVs and indels from whole genome and exome sequencing dataAn integrated map of genetic variation from 1,092 human genomesFast and accurate short read alignment with Burrows–Wheeler transformPatterns of Cancer Incidence, Mortality, and Prevalence Across Five Continents: Defining Priorities to Reduce Cancer Disparities in Different Geographic Regions of the WorldInherited mutations in <i>BRCA1</i> and <i>BRCA2</i> in an unselected multiethnic cohort of Asian patients with breast cancer and healthy controls from MalaysiaA study of over 35,000 women with breast cancer tested with a 25‐gene panel of hereditary cancer genesPrevalence and differentiation of hereditary breast and ovarian cancers in JapanStandards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular PathologyInherited Mutations in 17 Breast Cancer Susceptibility Genes Among a Large Triple-Negative Breast Cancer Cohort Unselected for Family History of Breast CancerComparative In Vitro and In Silico Analyses of Variants in Splicing Regions of BRCA1 and BRCA2 Genes and Characterization of Novel Pathogenic MutationsGene-Panel Sequencing and the Prediction of Breast-Cancer RiskGenetic/Familial High-Risk Assessment: Breast and Ovarian, Version 1.2014Dominant-Negative Features of Mutant <i>TP53</i> in Germline Carriers Have Limited Impact on Cancer OutcomesSignificant association between Nijmegen breakage syndrome 1 657del5 polymorphism and breast cancer riskBRCA1 and BRCA2 genetic testing—pitfalls and recommendations for managing variants of uncertain clinical significanceEvaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome ResourceENIGMA-Evidence-based network for the interpretation of germline mutant alleles: An international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genesClinical significance of large rearrangements in <i>BRCA1</i> and <i>BRCA2</i>Cross‐sectional analysis of germline <i>BRCA</i>1 and <i>BRCA</i>2 mutations in Japanese patients suspected to have hereditary breast/ovarian cancerHereditary Diffuse Gastric Cancer SyndromePolygenic susceptibility to breast cancer and implications for preventionFrequency and Spectrum of Cancers in the Peutz-Jeghers SyndromeEnvironmental and Heritable Factors in the Causation of Cancer — Analyses of Cohorts of Twins from Sweden, Denmark, and FinlandThe spectrum of BRCA mutations and characteristics of BRCA‐associated breast cancers in China: Screening of 2,991 patients and 1,043 controls by next‐generation sequencingDifferentiating pathogenic mutations from polymorphic alterations in the splice sites of <i>BRCA1</i> and <i>BRCA2</i>Male breast cancer in a multi-gene panel testing cohort: insights and unexpected resultsA framework for variation discovery and genotyping using next-generation DNA sequencing dataCHEK2*1100delC and Susceptibility to Breast Cancer: A Collaborative Analysis Involving 10,860 Breast Cancer Cases and 9,065 Controls from 10 StudiesCurrent status and new features of the Consensus Coding Sequence databaseCross-sectional analysis of BioBank Japan clinical data: A large cohort of 200,000 patients with 47 common diseasesOverview of the BioBank Japan project: study design and profilesCharacteristics and prognosis of Japanese female breast cancer patients: The BioBank Japan project
- 連携機関・データベース
- 国立情報学研究所 : CiNii Research
- 提供元機関・データベース
- 学術機関リポジトリデータベースCrossrefCiNii Articles科学研究費助成事業データベース科学研究費助成事業データベース科学研究費助成事業データベース科学研究費助成事業データベース科学研究費助成事業データベース科学研究費助成事業データベース科学研究費助成事業データベース科学研究費助成事業データベースCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossrefCrossref
- NII論文ID
- 120006949472
- 要約等
- Pathogenic variants in highly penetrant genes are useful for the diagnosis, therapy, and surveillance for hereditary breast cancer. Large-scale studies are needed to inform future testing and variant classification processes in Japanese. We performed a case-control association study for variants in coding regions of 11 hereditary breast cancer genes in 7051 unselected breast cancer patients and 11,241 female controls of Japanese ancestry. Here, we identify 244 germline pathogenic variants. Pathogenic variants are found in 5.7% of patients, ranging from 15% in women diagnosed <40 years to 3.2% in patients ≥80 years, with BRCA1/2, explaining two-thirds of pathogenic variants identified at all ages. BRCA1/2, PALB2, and TP53 are significant causative genes. Patients with pathogenic variants in BRCA1/2 or PTEN have significantly younger age at diagnosis. In conclusion, BRCA1/2, PALB2, and TP53 are the major hereditary breast cancer genes, irrespective of age at diagnosis, in Japanese women.
- 記録形式（IMT）
- application/pdf
- 一次資料へのリンクURL
- fulltext
- オンライン閲覧公開範囲
- インターネット公開
- 著作権情報
- This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. © The Author(s) 2018
- 関連情報
- 10.1038/s41467-018-06581-8
- 関連情報（DOI）
- 10.1038/s41467-018-06581-8
- 掲載誌（NCID）
- AA12645905
- 連携機関・データベース
- 国立情報学研究所 : 学術機関リポジトリデータベース（IRDB）（機関リポジトリ）
- 提供元機関・データベース
- 徳島大学 : 徳島大学機関リポジトリ