リキッドがん遺伝子パネル検査関連重要論文

がんゲノム

2022.11.6 随時更新

日本のエキスパートパネル

• 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

• 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

• 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

ESMO推奨

• 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

EGFR肺癌

• 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

• 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

• 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

• 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

• 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

• 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

Blood TMB

• 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

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

乳癌

• Analysis of circulating tumor DNA to monitor metastatic breast cancer
  NEJM 2013
  https://pubmed.ncbi.nlm.nih.gov/23484797/

肺癌

• 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

• 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

• 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

• 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

• 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

• 前へ
• 次へ
• 日記/2022年

更新日：2022-11-06 閲覧数：658 views.