Session Details
[OE6]Oral English Session 6 Respiratory and Cardiovascular Genetics / Cancer Genetics
Fri. Dec 16, 2022 2:10 PM - 3:00 PM JST
Fri. Dec 16, 2022 5:10 AM - 6:00 AM UTC
Fri. Dec 16, 2022 5:10 AM - 6:00 AM UTC
Room 7
Chairs：Hiroko Morisaki (Department of Medical Genetics, Sakakibara Heart Institute), Toyomasa Katagiri (Div. Genome Med., Inst. Adv. Med Sci., Tokushima Univ.)
[OE6-1]Family cascade testing in 54,407 patients undergoing cardiomyopathy and arrhythmia genetic testing
○Aradhya Swaroop, Callis Thomas, Morales Ana, Mitchell Asia, Poll Sarah, Garcia John, McKnight Dianalee, Mortez Chad, Vatta Matteo, Nussbaum Robert (Invitae Inc., San Francisco, USA)
[OE6-2]Utility of genetic diagnosis in clinical decision making for a case of forme fruste of Marfan syndrome
○Makoto Takei1, Kota Ishioka2, Hitomi Tsukada3, Keisuke Yoshihama4, Shinsuke Funakoshi5, Toshiyuki Takahashi1 (1.Department of Cardiology, Tokyo Saiseikai Central Hospital, 2.Department of Pulmonology, Tokyo Saiseikai Central Hospital, 3.Department of Obstetrics and Gynecology, Tokyo Saiseikai Central Hospital, 4.Department of Otolaryngology, Tokyo Saiseikai Central Hospital, 5.Department of Oncology, Tokyo Saiseikai Central Hospital)
[OE6-3]A TBX5_TBX3 deletion identified in a patient with suspected long QT syndrome
○Seiko Ohno1, Masao Yoshianga2 (1.Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center, Suita, Japan, 2.Department of Pediatrics National Hospital Organization Kagoshima Medical Center, Kagoshima, Japan)
[OE6-4]Deciphering the genetic architecture of hypertrophic cardiomyopathy by whole exome sequencing analysis
○CHA PEI CHIENG1, Keiko Sonoda2, Seiko Ohno2, Atsushi Takahashi1 (1.Department of Genomic Medicine, Research Institute, National Cerebral and Cardiovascular Center (NCVC), 2.Department of Biosciences and Genetics, Research Institute, NCVC)
[OE6-5]Germline and Somatic Whole Exome Sequencing Identifies A Novel Candidate Gene in Double Primary BCRA-associated Cancers
○Tanioka Maki1, Masayuki Yoshida2, Nobuyoshi Hiraoka2, Tomomi Yoshino6, Chihiro Okada3, Sachio Nohara3, Kazuki Sudo4, Jun Mitsui5 (1.Okayama University of Graduate School of Medicine Dentistry and Pharmaceutical Sciences, 2.National Cancer Center Hospital, Diagnostic Pathology, Tokyo, Japan, 3.Mitsubishi Electric Software Corporation, 4.National Cancer Center Japan, Medical Oncology,Tokyo, Japan, 5.University of Tokyo, Molecular Neurology, Tokyo, Japan, 6.National Cancer Center Hospital, Molecular Pharmacology, Tokyo, Japan)