Importance of presumed germline pathogenic variants and genetic support after tumor-only sequencing

被引：0
|
作者：
Kawamura, Miyuki [1 ]
Matsumoto, Koji [1 ]
Morita, Mitsunori [1 ]
Sakai, Hideki [1 ]
Onoe, Takuma [1 ]
Urakawa, Yusaku [2 ,3 ]
Sugawara, Hiromi [4 ]
Ueno, Sayaka [5 ]
Sudo, Tamotsu [5 ,6 ]
机构：
[1] HCC, Dept Med Oncol, Osaka, Japan
[2] Okayama Univ, Dept Clin Gen Dent & Pharm Sci, Okayama, Japan
[3] Kobe City Med Ctr, Gen Hosp, Dept Med Oncol, Kobe, Hyogo, Japan
[4] HCC, Dept Clin Genet, Osaka, Japan
[5] HCC, Dept Translat Res, Osaka, Japan
[6] HCC, Dept Clin Ctr Canc Genom & Clin Res, Osaka, Japan
来源：
CANCER SCIENCE | 2022年 / 113卷
关键词：
D O I：
暂无
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
J7-2-6
引用
收藏
页数：1
相关论文
共 50 条
  • [21] Clinically significant germline pathogenic variants are missed by tumor genomic sequencing
    Stout, Leigh Anne
    Hunter, Cynthia
    Schroeder, Courtney
    Kassem, Nawal
    Schneider, Bryan P.
    NPJ GENOMIC MEDICINE, 2023, 8 (01)
  • [22] Clinically significant germline pathogenic variants are missed by tumor genomic sequencing
    Leigh Anne Stout
    Cynthia Hunter
    Courtney Schroeder
    Nawal Kassem
    Bryan P. Schneider
    npj Genomic Medicine, 8
  • [23] Identifying germline pathogenic variants in breast cancer using tumor sequencing
    Cruellas, Mara
    Papakonstantinou, Andri
    Lopez-Fernandez, Adria
    Castillo, Ester
    Matito, Judit
    Gomez, Marina
    Rezqallah, Alejandra
    Vega, Sharela
    Navarro, Victor
    Torres, Maite
    Moles-Fernandez, Alejandro
    Saura, Cristina
    Vivancos, Ana
    Balmana, Judith
    Oliveira, Mafalda
    BREAST, 2025, 81
  • [24] Clinical Quality in Cancer Research: Strategy to Assess Data Integrity of Germline Variants Inferred from Tumor-Only Testing Sequencing Data
    Timothé Ménard
    Donato Rolo
    Björn Koneswarakantha
    Pharmaceutical Medicine, 2021, 35 : 225 - 233
  • [25] Tumor Mutational Burden From Tumor-Only Sequencing Compared With Germline Subtraction From Paired Tumor and Normal Specimens
    Parikh, Kaushal
    Huether, Robert
    White, Kevin
    Hoskinson, Derick
    Beaubier, Nike
    Dong, Haidong
    Adjei, Alex A.
    Mansfield, Aaron S.
    JAMA NETWORK OPEN, 2020, 3 (02) : e200202
  • [26] Putative germline findings in tumor-only and liquid biopsy sequencing in veterans with aggressive prostate cancer.
    Maxwell, Kara Noelle
    Hausler, Ryan
    Garraway, Isla
    Nickols, Nicholas George
    Lee, Kyung Min
    Lynch, Julie Ann
    JOURNAL OF CLINICAL ONCOLOGY, 2022, 40 (06)
  • [27] Variants Reported by Tumor-Only Clinical Oncology NGS Testing Are Frequently Found in the Germline of Pediatric Patients
    Saeed, A.
    Yoo, B.
    Zellmer, L.
    Guest, E.
    Farrow, E.
    Gibson, M.
    Miller, N.
    Pastinen, I.
    Saunders, C.
    Farooqi, M. S.
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2019, 21 (06): : 1247 - 1247
  • [28] Inference of Germline Mutational Status and Evaluation of Loss of Heterozygosity in High-Depth, Tumor-Only Sequencing Data
    Khiabanian, Hossein
    Hirshfield, Kim M.
    Goldfinger, Mendel
    Bird, Simon
    Stein, Mark
    Aisner, Joseph
    Toppmeyer, Deborah
    Wong, Serena
    Chan, Nancy
    Dhar, Kalyani
    Gheeya, Jinesh
    Vig, Hetal
    Hadigol, Mohammad
    Pavlick, Dean
    Ansari, Sepand
    Ali, Siraj
    Xia, Bing
    Rodriguez-Rodriguez, Lorna
    Ganesan, Shridar
    JCO PRECISION ONCOLOGY, 2018, 2 : 1 - 15
  • [29] Detection of Somatic Mutations in Exome Sequencing of Tumor-only Samples
    Hsu, Yu-Chin
    Hsiao, Yu-Ting
    Kao, Tzu-Yuan
    Chang, Jan-Gowth
    Shieh, Grace S.
    SCIENTIFIC REPORTS, 2017, 7
  • [30] Detection of Somatic Mutations in Exome Sequencing of Tumor-only Samples
    Yu-Chin Hsu
    Yu-Ting Hsiao
    Tzu-Yuan Kao
    Jan-Gowth Chang
    Grace S. Shieh
    Scientific Reports, 7
12345