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#author("2022-11-06T13:28:21+09:00;1970-01-01T18:00:00+09:00","default:tgoto","tgoto")
* エキパネ関連重要論文 [#af76c9d3]
#author("2023-01-09T18:00:51+09:00;2022-11-06T13:30:51+09:00","","")
&tag(がんゲノム);
2022.11.6 随時更新
#ref(https://oncologynote.jp/img/a50b938ce4.png,nolink)
#contents
* 日本のエキスパートパネル [#i94766c4]
- The initial assessment of expert panel performance in core hospitals for cancer genomic medicine in Japan
Int J Clin Oncol 2021
https://pubmed.ncbi.nlm.nih.gov/33385275/
* ctDNAと組織DNAの対比 [#b259e06a]
- Liquid versus tissue biopsy for detecting actionable alterations according to ESCAT in patients with advanced cancer: A study from the French National Center for Precision Medicine (PRISM)
Ann Oncol 2022
https://pubmed.ncbi.nlm.nih.gov/36122799/
- Liquid biopsies come of age: towards implementation of circulating tumour DNA
Nat Rev Cancer 2017
https://pubmed.ncbi.nlm.nih.gov/28233803/
- Clinical utility of circulating tumor DNA sequencing in advanced gastrointestinal cancer: SCRUM-Japan GI-SCREEN and GOZILA studies
Nat Med 2020
https://pubmed.ncbi.nlm.nih.gov/33020649/
* CGP検査の役割 [#y9edf129]
- Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing
Nat Biotechnol
https://pubmed.ncbi.nlm.nih.gov/24142049/
- Clinical next generation sequencing to identify actionable aberrations in a phase I program
Oncotarget 2015
https://pubmed.ncbi.nlm.nih.gov/26015395/
- Systematic pan-cancer analysis of mutation-treatment interactions using large real-world clinicogenomics data
Nat Med 2022
https://pubmed.ncbi.nlm.nih.gov/35773542/
* ctDNAの有用性に関する推奨など [#s7eb8a04]
** ESMO推奨 [#h4d7ec96]
- ESMO recommendations on the use of circulating tumour DNA assays for patients with cancer: a report from the ESMO Precision Medicine Working Group
https://pubmed.ncbi.nlm.nih.gov/35809752/
- Expert panel consensus recommendations on the use of circulating tumor DNA assays for patients with advanced solid tumors
Cancer Sci 2022
https://pubmed.ncbi.nlm.nih.gov/35876224/
* ctDNAで耐性獲得を確認する [#l4443144]
** EGFR肺癌 [#x4647b0d]
- Tumor Analyses Reveal Squamous Transformation and Off-Target Alterations As Early Resistance Mechanisms to First-line Osimertinib in EGFR-Mutant Lung Cancer
Clin Cancer Res
https://pubmed.ncbi.nlm.nih.gov/31911548/
** 乳癌 [#f1aca0a9]
- The Genomic Landscape of Endocrine-Resistant Advanced Breast Cancers
Cancer Cell 2018 427-438
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6327853/
** KRAS大腸癌 [#a42f7733]
- Circulating tumor DNA to guide rechallenge with panitumumab in metastatic colorectal cancer: the phase 2 CHRONOS trial
Nat Med 2021
https://www.nature.com/articles/s41591-022-01886-0
** プラチナ耐性卵巣癌reversion変異 [#e1b4bdd3]
- Diverse BRCA1 and BRCA2 Reversion Mutations in Circulating Cell-Free DNA of Therapy-Resistant Breast or Ovarian Cancer
Clin Cancer Res
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5728372/
- BRCA Reversion Mutations in Circulating Tumor DNA Predict Primary and Acquired Resistance to the PARP Inhibitor Rucaparib in High-Grade Ovarian Carcinoma
Cancer Discov 2019
https://pubmed.ncbi.nlm.nih.gov/30425037/
* 二次的所見・遺伝性腫瘍 [#t2ff80b8]
- Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers
JAMA 2017
https://pubmed.ncbi.nlm.nih.gov/28632866/
- Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants
JAMA Oncol 2022
https://pubmed.ncbi.nlm.nih.gov/35420638/
- Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology
JNCCN 2021
https://pubmed.ncbi.nlm.nih.gov/33406487/
- Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls
Nat Commun 2018
https://pubmed.ncbi.nlm.nih.gov/30287823/
日本人乳癌コホート
** VAF30%以上は遺伝性腫瘍を強く疑うが、VAF値だけでは確定はできない [#cc6c91b7]
- Prevalence of pathogenic germline variants in the circulating tumor DNA testing
Int J Clin Oncol 2022
https://pubmed.ncbi.nlm.nih.gov/35870019/
- 10万人ゲノム
Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations
Nat Med 2020
https://pubmed.ncbi.nlm.nih.gov/31937769/
* ctDNAの特徴 [#c57d4cbb]
** Blood TMB [#p630f112]
- 組織TMBとblood TMBのconcordance
Genomic immunotherapy (IO) biomarkers detected on comprehensive genomic profiling (CGP) of tissue and circulating tumor DNA (ctDNA).
ASCO2021（学会抄録）
https://ascopubs.org/doi/abs/10.1200/JCO.2021.39.15_suppl.2541
** 癌腫・腫瘍量・転移部位によるctDNA検出率の違い [#i0573ed5]
癌腫
- Detection of circulating tumor DNA in early- and late-stage human malignancies
Sci Transl Med 2014
https://pubmed.ncbi.nlm.nih.gov/24553385/
転移部位
- Effects of Metastatic Sites on Circulating Tumor DNA in Patients With Metastatic Colorectal Cancer
jco precision oncol 2022
https://pubmed.ncbi.nlm.nih.gov/35544728/
腫瘍量
- An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage
https://pubmed.ncbi.nlm.nih.gov/24705333/
- Phylogenetic ctDNA analysis depicts early-stage lung cancer evolution
Nature 2017
https://pubmed.ncbi.nlm.nih.gov/28445469/
* ctDNAと治療効果 [#y9ae2fb1]
** 乳癌 [#n8c3951e]
- Analysis of circulating tumor DNA to monitor metastatic breast cancer
NEJM 2013
https://pubmed.ncbi.nlm.nih.gov/23484797/
** 肺癌 [#g55f4822]
- An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage
Nat Med 2014
https://pubmed.ncbi.nlm.nih.gov/24705333/
- ctDNA Predicts Overall Survival in Patients With NSCLC Treated With PD-L1 Blockade or With Chemotherapy
JCO Presicion Oncol 2021
https://pubmed.ncbi.nlm.nih.gov/34994614/
** RAS大腸癌とEGFR抗体 [#wcdf867c]
- Genomic Landscape of Cell-Free DNA in Patients with Colorectal Cancer
Cancer Discov 2018
https://pubmed.ncbi.nlm.nih.gov/29196463/
- Anti-EGFR-resistant clones decay exponentially after progression: implications for anti-EGFR re-challenge
Ann Oncol 2019
https://pubmed.ncbi.nlm.nih.gov/30462160/
** HER2大腸癌 [#q5a0fc65]
- Circulating tumor DNA-guided treatment with pertuzumab plus trastuzumab for HER2-amplified metastatic colorectal cancer: a phase 2 trial
Nat Med 2021
https://pubmed.ncbi.nlm.nih.gov/34764486/
* CHIP [#y502807f]
- FoundationOne Liquid CDxでCHIPの可能性ありとされる遺伝子
ASXL1, ATM, CBL, CHEK2, DNMT3A, JAK2, KMT2D (MLL2), MPL, MYD88, SF3B1,
TET2, TP53, U2AF1
- クローン造血
Clonal hematopoiesis in human aging and disease
Science 2019
https://pubmed.ncbi.nlm.nih.gov/31672865/
- Association of Clonal Hematopoiesis in DNA Repair Genes With Prostate Cancer Plasma Cell-free DNA Testing Interference
JAMA Oncol 2021
https://pubmed.ncbi.nlm.nih.gov/33151258/
- 人種間の違い
Combined landscape of single-nucleotide variants and copy number alterations in clonal hematopoiesis
Nat Med 2021
https://pubmed.ncbi.nlm.nih.gov/34239136/
- 年齢による違い
Association of Clonal Hematopoiesis in DNA Repair Genes With Prostate Cancer Plasma Cell-free DNA Testing Interference
JAMA Oncol 2021
https://pubmed.ncbi.nlm.nih.gov/33151258/
* 有用なサイト [#o875e011]
- 医薬品情報データベース
https://www.clinicaltrials.jp
- 日本医師会治験推進センター
http://www.jmacct.med.or.jp
- 臨床試験登録データベースCTR
https://www.umin.ac.jp/ctr/index-j.htm
#navi(日記/2022年)
#pcomment