Validating models of imputing germline versus somatic status for variants detected by tumor-only genomic profiling using germline clinical testing data

被引:0
|
作者
Gomy, Israel [1 ]
Jalloul, Nahed [2 ]
Stokes, Samantha [1 ]
Gusev, Alexander [1 ]
Ganesan, Shridar [2 ]
Garber, Judy [1 ]
Khiabanian, Hossein [2 ]
机构
[1] Dana Farber Canc Inst, Boston, MA 02115 USA
[2] Rutgers Canc Inst, New Brunswick, NJ USA
关键词
D O I
10.1158/1538-7445.AM2020-LB-245
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
LB-245
引用
收藏
页数:2
相关论文
共 23 条
  • [1] Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma
    Mitchell, Owen D.
    Gilliam, Katie
    del Gaudio, Daniela
    McNeely, Kelsey E.
    Smith, Shaili
    Acevedo, Maria
    Gaduraju, Meghana
    Hodge, Rachel
    Ramsland, Aubrianna S. S.
    Segal, Jeremy
    Das, Soma
    Hathaway, Feighanne
    Bryan, Darren S.
    Tawde, Sanjukta
    Galasinski, Shelly
    Wang, Peng
    Tjota, Melissa Y.
    Husain, Aliya N.
    Armato, Samuel G., III
    Donington, Jessica
    Ferguson, Mark K.
    Turaga, Kiran
    Churpek, Jane E.
    Kindler, Hedy L.
    Drazer, Michael W.
    JAMA NETWORK OPEN, 2023, 6 (08) : E2327351
  • [2] Germline sequencing for presumed germline pathogenic variants via tumor-only comprehensive genomic profiling
    Kondo, Tomohiro
    Yamamoto, Yoshihiro
    Fukuyama, Keita
    Kanai, Masashi
    Yamada, Atsushi
    Matsubara, Junichi
    Quy, Pham Nguyen
    Yoshioka, Masahiro
    Yamada, Takahiro
    Minamiguchi, Sachiko
    Matsumoto, Shigemi
    Kosugi, Shinji
    Muto, Manabu
    INTERNATIONAL JOURNAL OF CLINICAL ONCOLOGY, 2022, 27 (08) : 1256 - 1263
  • [3] Germline Testing Data Validate Inferences of Mutational Status for Variants Detected From Tumor-Only Sequencing
    Jalloul, Nahed
    Gomy, Israel
    Stokes, Samantha
    Gusev, Alexander
    Johnson, Bruce E.
    Lindeman, Neal, I
    Macconaill, Laura
    Ganesan, Shridar
    Garber, Judy E.
    Khiabanian, Hossein
    JCO PRECISION ONCOLOGY, 2021, 5 : 1749 - 1757
  • [4] Germline sequencing for presumed germline pathogenic variants via tumor-only comprehensive genomic profiling
    Tomohiro Kondo
    Yoshihiro Yamamoto
    Keita Fukuyama
    Masashi Kanai
    Atsushi Yamada
    Junichi Matsubara
    Pham Nguyen Quy
    Masahiro Yoshioka
    Takahiro Yamada
    Sachiko Minamiguchi
    Shigemi Matsumoto
    Shinji Kosugi
    Manabu Muto
    International Journal of Clinical Oncology, 2022, 27 : 1256 - 1263
  • [5] Confirmatory germline testing for presumed germline pathogenic variants using tumor-only testing.
    Kondo, Tomohiro
    Yamada, Takahiro
    Yoshioka, Masahiro
    Nishigaki, Masakazu
    Yamamoto, Yoshihiro
    Kou, Tadayuki
    Matsubara, Junichi
    Kanai, Masashi
    Matsumoto, Shigemi
    Muto, Manabu
    Kosugi, Shinji
    JOURNAL OF CLINICAL ONCOLOGY, 2021, 39 (15)
  • [6] Using Tumor/Germline Paired Data to Recalibrate Rescue of Somatic Variants in Tumor-Only NGS
    Ananda, G.
    Ananda, G.
    Sholl, L.
    Manning, D.
    Eifert, C.
    D'Eletto, M.
    MacConaill, L.
    Nowak, J.
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2023, 25 (11): : S84 - S84
  • [7] Germline BAP1 mutations misreported as somatic based on tumor-only testing
    Mohamed H. Abdel-Rahman
    Karan Rai
    Robert Pilarski
    Frederick H. Davidorf
    Colleen M. Cebulla
    Familial Cancer, 2016, 15 : 327 - 330
  • [8] Germline BRCA2 variant with low variant allele frequency detected in tumor-only comprehensive genomic profiling
    Hayashi, Hideyuki
    Kunimasa, Kei
    Tanishima, Shigeki
    Nakamura, Kohei
    Ishikawa, Marin
    Kato, Yasutaka
    Aimono, Eriko
    Kawano, Ryutaro
    Nishihara, Hiroshi
    CANCER SCIENCE, 2024, 115 (02) : 682 - 686
  • [9] A Clinical Approach to Detecting Germline Pathogenic Variants From Tumor-Only Sequencing
    Ceyhan-Birsoy, Ozge
    Misyura, Maksym
    Mandelker, Diana
    JNCI CANCER SPECTRUM, 2020, 4 (03)
  • [10] 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