The 69th Annual Meeting of the Japan Society of Human Genetics

[P3-01-1]A nationwide survey of prenatal consultant pediatricians on the attitudes to fetal ultrasound examination

^○Miwa Sakamoto¹, Nahoko Sirato¹, Tatsuko Ishii¹, Aiko Sekine¹, Takahiro Yamada², Kentarou Kurasawa³, Kaori Mutou⁴, Akihiko Sekizawa¹
(1.Department of Obstetrics and Gynecology, Showa University School of Medicine, Tokyo, Japan, 2.Division of Clinical Genetics, Hokkaido University Hospital, Hokkaido, Japan, 3.Department of Obstetrics & Gynecology, Yokohama Municipal Citizen^`s Hospital, 4.The Institute of Medical Science, The University of Tokyo, Tokyo, Japan)

[P3-01-2]The Protection of Genetic Information and the Ethics thereof: a Comparative Study of Japan, South Korea, and Taiwan

^○Hyunsoo Hong¹, Yicheng Chung², Miho Tanaka³
(1.Institute of Sociology and Social Work, Meijigakuin University, Tokyo, Japan, 2.Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan, 3.Japan Medical Association Research Institute, Tokyo, Japan)

[P3-01-3]A nationwide survey of obstetric facilities on the status of fetal ultrasound examination as one of prenatal tests

^○Nahoko Shirato¹, Akihiko Sekizawa¹, Tatsuko Ishii¹, Aiko Sekine¹, Miwa Sakamoto¹, Takahiro Yamada², Kentaro Kurasawa³, Kaori Mutou⁴
(1.Department of Obstetrics and Gynecology, Showa University School of Medicine, Tokyo, Japan, 2.Division of Clinical Genetics, Hokkaido University Hospital, Hokkaido, Japan, 3.Department of Obstetrics & Gynecology, Yokohama Municipal Citizens Hospital, Kanagawa, Japan, 4.The Institute of Medical Science, The University of Tokyo, Tokyo, Japan)

[P3-01-4]A nationwide survey of pregnant and nursing mothers on the experiences of fetal ultrasound examination

^○Aiko Sekine¹, Nahoko Shirato¹, Tatsuko Ishii¹, Miwa Sakamoto¹, Takahiro Yamada², Kentaro Kurasawa³, Kaori Mutou⁴
(1.Department of Obstetrics and Gynecology, Showa University School of Medicine, Tokyo, Japan, 2.Division of Clinical Genetics, Hokkaido University Hospital, Hokkaido, Japan, 3.Department of Obstetrics & Gynecology, Yokohama Municipal Citizen's Hospital, 4.The Institute of Medical Science, The University of Tokyo, Tokyo, Japan)

[P3-01-5]Perceptions of the risks and benefits of early dementia prediction

^○Yukitaka Kiya¹, Izen Ri¹, Kaori Muto^1,2
(1.Department of Public Policy, Human Genome Center, Institute of Medical Science, University of Tokyo, 2.RIKEN Center for Integrative Medical Sciences, Laboratory for Biomedical Ethics and Co-design)

[P3-01-6]Transition Care Program for Down syndrome and Their Families

^○Shiho Ito¹, Hiroshi Futagawa², Hiroshi Yoshihashi², Kentaro Fukuda², Yumi Aoki¹, Minae Inoue¹, Mariko Endo¹, Yuri Yoshida², Masataka Honda³
(1.Division of Nursing, Tokyo Metropolitan Children's Medical Hospital, 2.Division of Medical Genetics, Tokyo Metropolitan Children's Medical Hospital, 3.Clinical Research Support Center, Tokyo Metropolitan Children's Medical Hospital)

[P3-01-7]Our attempts to create informed assent forms for genetic testing in medical practice

^○Ai Unzaki^1,2, Mizuho Suzuki^1,2, Yuko Ohnuki^1,2, Kei Takeshita^1,2
(1.Department of Medical Ethics, Tokai University School of Medicine, 2.Department of Clinical Genetics, Tokai University Hospital)

[P3-01-8]Literature Survey on Genetic Counseling for Marginalized Ethnic Communities: Global Insights for the Japanese Context

^○Kate Nakasato, Moeko Isono, Kazuto Kato
(Department of Biomedical Ethics and Public Policy, Graduate School of Medicine, Osaka University, Osaka, Japan)

[P3-01-9]Patient's Perspectives on the Sensitivity and Confidentiality of Medical Data

^○Mizuho Suzuki^1,2, Yuko Ohnuki^1,2, Ai Unzaki^1,2, Kei Takeshita^1,2
(1.Department of Medical Ethics, Tokai University School of Medicine, Kanagawa, Japan, 2.Department of Clinical Genetics, Tokai University Hospital, Kanagawa, Japan)

[P3-01-10]This abstract has been withdrawn

[P3-01-11]Press Coverage of Genomic Medicine and Research in Japan and Its Sources

^○Fuji Nagami¹, Misaki Arakawa¹, Koki Onuma², Keisuke Otsubo²
(1.Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan, 2.Healthcare Consulting Department, Mitsubishi UFJ Research & Consulting Co. Ltd.)

[P3-01-12]Forced Sterilization and Determination of "Heritability" Under the Eugenic Protection Law

^○Hideki Yui^1,2
(1.Laboratory for Biomedical Ethics and Codesign, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan, 2.Center for Birth Cohort Studies, University of Yamanashi)

[P3-02-1]Expression of ferroptosis-related genes in eosinophilic chronic sinusitis

^○Tomomitsu Hirota¹, Natsuki Inoue², Mamoru Yoshikawa², Daiki Nakashima³, Eri Mori³, Kazuhiro Omura³, Tsuguhisa Nakayama⁴, Nobuyoshi Otori³, Hiromi Kojima³, Mayumi Tamari¹
(1.Division of Molecular Genetics, Research Center for Medical Science, The Jikei University School of Medicine, Tokyo, Japan, 2.Department of Otorhinolaryngology, Toho University Ohashi Medical Center, Tokyo, Japan, 3.Department of Otorhinolaryngology, The Jikei University School of Medicine, Tokyo, Japan, 4.Department of Otorhinolaryngology, Head and Neck Surgery, Dokkyo Medical University, Tochigi, Japan)

[P3-02-2]Genome wide association studies for serum liver enzymes in the Ryukyu population

^○Noriko Ohyama^1,2, Masatoshi Matsunami¹, Minako Imamura^1,4, Xiaoxi Liu⁷, Kohei Tomizuka⁷, Akihiro Yoshida^1,3, Azeem Javed¹, Chikashi Terao⁷, Koichi Matsuda^5,6, Shiro Maeda^1,4
(1.Department of Advanced Genomic and Laboratory Medicine, Graduate School of Medicine, University of the Ryukyus, Okinawa, Japan, 2.Department of Cardiovascular Surgery, Okinawa Prefectural Nanbu Medical Center and Children's Medical Center, Okinawa, Japan, 3.Department of Obstetrics and Gynecology, Okinawa Hokubu Hospital, Okinawa, Japan, 4.Division of Clinical Laboratory and Blood Transfusion, University of the Ryukyus Hospital, Okinawa, Japan, 5.Institute of Medical Science, The University of Tokyo, Tokyo, Japan, 6.Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo, Japan, 7.Laboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Kanagawa, Japan)

[P3-02-3]Association of SERPINA1 variants with ANCA-associated vasculitis in a Japanese population

^○Aya Kawasaki¹, Ken-ei Sada^2,3, Yasuyoshi Kusanagi⁴, Kenji Itoh⁴, Nobuyuki Ono⁵, Fumio Hirano⁶, Tomoaki Higuchi⁷, Shigeto Kobayashi⁸, Kenji Nagasaka⁹, Takahiko Sugihara⁶, Takashi Fujimoto¹⁰, Makio Kusaoi¹¹, Yamashita Keita^1,12, Kunihiro Yamagata¹³, Takayuki Sumida¹⁴, Naoto Tamura¹¹, Hiroshi Hashimoto¹⁵, Hirofumi Makino¹⁶, Yoshihiro Arimura^17,18, Masayoshi Harigai⁷, Naoyuki Tsuchiya¹
(1.Molecular and Genetic Epidemiology, Institute of Medicine, University of Tsukuba, Tsukuba, Japan, 2.Department of Nephrology, Rheumatology, Endocrinology and Metabolism, Okayama University Graduate School of Medicine, Okayama, Japan, 3.Department of Clinical Epidemiology, Kochi University, Kochi, Japan, 4.Division of Hematology and Rheumatology, National Defense Medical College, Tokorozawa, Japan, 5.Department of Rheumatology, Faculty of Medicine, Saga University, Saga, Japan, 6.Department of Lifetime Clinical Immunology, Tokyo Medical and Dental University (TMDU), Tokyo, Japan, 7.Division of Rheumatology, Department of Internal Medicine, Tokyo Women's Medical University, Tokyo, Japan, 8.Department of Internal Medicine, Juntendo University Koshigaya Hospital, Koshigaya, Japan, 9.Department of Rheumatology, Ome Medical Center, Ome, Japan, 10.Department of General Medicine, Nara Medical University, Nara, Japan, 11.Department of Internal Medicine and Rheumatology, Juntendo University Faculty of Medicine, Tokyo, Japan, 12.Department of Laboratory Medicine, Hamamatsu University School of Medicine, Hamamatsu, Japan, 13.Department of Nephrology, University of Tsukuba, Tsukuba, Japan, 14.Department of Internal Medicine, University of Tsukuba, Tsukuba, Japan, 15.School of Medicine, Juntendo University, Tokyo, Japan, 16.Okayama University, Okayama, Japan, 17.Department of Nephrology and Rheumatology, Kyorin University, Tokyo, Japan, 18.Department of Internal Medicine, Kichijoji Asahi Hospital, Tokyo, Japan)

[P3-02-4]Functional analyses of the late-onset Alzheimer's disease-risk SHARPIN variants using CRISPR/Cas9 knock-in cells

^○Yuya Asanomi¹, Tetsuaki Kimura¹, Nobuyoshi Shimoda¹, Daichi Shigemizu^1,2, Shumpei Niida³, Kouichi Ozaki^1,2,4
(1.Medical Genome Center, Research Institute, National Center for Geriatrics and Gerontology, Obu, Japan, 2.Department of Cardiovascular Medicine, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan, 3.Research Institute, National Center for Geriatrics and Gerontology, Obu, Japan, 4.RIKEN Center for Integrative Medical Sciences, Yokohama, Japan)

[P3-02-5]Copy number variations in RNF216 and postsynaptic membrane-associated genes are associated with bipolar disorder

^○Masahiro Nakatochi¹, Itaru Kushima^2,3, Branko Aleksic², Hiroki Kimura², Hidekazu Kato², Toshiya Inada², Youta Torii², Nagahide Takahashi⁴, Maeri Yamamoto², Kunihiro Iwamoto², Yoshihiro Nawa², Nakao Iwata⁵, Saito Takeo⁵, Kohei Ninomiya⁵, Tomo Okochi⁵, Yasuyuki Yamamoto¹, Yuko Arioka^2,6, Daisuke Mori^2,7,8, Masashi Ikeda², Norio Ozaki⁸
(1.Public Health Informatics Unit, Department of Integrated Health Sciences, Nagoya University Graduate School of Medicine, Nagoya, Japan, 2.Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan, 3.Medical Genomics Center, Nagoya University Hospital, Nagoya, Japan, 4.Department of Child and Adolescent Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan, 5.Department of Psychiatry, Fujita Health University School of Medicine, Toyoake, Japan, 6.Center for Advanced Medicine and Clinical Research, Nagoya University Hospital, Nagoya, Japan, 7.Brain and Mind Research Center, Nagoya University, Nagoya, Japan, 8.Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan)

[P3-02-6]Comprehensive analysis of genetic architecture and subjective response to alcohol in healthy Japanese young adults

^○Keiko Hikino¹, Ikuo Otsuka², Shunji Oshima³, Akitoyo Hishimoto², Kouichi Ozaki⁴, Xiaoxi Liu¹, Yuki Ishikawa¹, Taisei Mushiroda¹, Sachio Matsushita⁵, Chikashi Terao^1,6,7
(1.RIKEN Center for Integrative Medical Sciences, Kanagawa, Japan, 2.Kobe University Graduate School of Medicine, Kobe, Japan, 3.Asahi Quality & Innovations, Ltd., Ibaraki, Japan, 4.National Center for Geriatrics and Gerontology, Aichi, Japan, 5.National Hospital Organization Kurihama Medical and Addiction Center, Kanagawa, Japan, 6.Shizuoka General Hospital, Shizuoka, Japan, 7.University of Shizuoka, Shizuoka, Japan)

[P3-02-7]Analysis of the regulatory mechanism of MBL2 in blood and its physiological significance

^○Tsz Ki (Charlotte) Yip¹, Shin Sakaguchi¹, Amy Khor Hui Ping¹, Yunye He², Yoichiro Kamatani², Hiromi Tsuru³, Yuka Okamoto³, Yoji Sagiya¹, Chizu Tanikawa¹, Koichi Matsuda^1,3
(1.Laboratory of Clinical Genome Sequencing, Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, 2.Laboratory of Complex Trait Genomics, Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, 3.Laboratory of Genome Technology, Human Genome Center, The Institute of Medical Science (IMSUT), The University of Tokyo)

[P3-02-8]Regulation of gastrointestinal hormone and its possible role in peptic ulcer pathogenesis by SNP rs2233580 in PAX4

^○Sutthaorn Pothongsrisit¹, Yoji Sagiya¹, Hiromi Tsuru², Yunye He³, Masaru Koido³, Yoichiro Kamatani³, Chizu Tanikawa¹, Koichi Matsuda^1,2
(1.Laboratory of Clinical Genome Sequencing, Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, University of Tokyo, 2.Laboratory of Genome Technology, Human Genome Centre, Institute of Medical Science, University of Tokyo, 3.Laboratory of Complex Trait Genomics, Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, University of Tokyo)

[P3-03-1]Tumor immune responses in breast cancer with BRCA pathogenic sequence variants

^○Kana Ogisawa¹, Mariko Nishikawa¹, Yuko Kikukawa¹, Rika Sugahara¹, Koji Takada¹, Wataru Goto¹, Yukie Tauchi¹, Tamami Morisaki¹, Haruka Bamba², Eri Sakai², Chie Ono², Masakazu Yashiro³, Seto Toshiyuki², Shinichiro Kashiwagi¹
(1.Tumor immune responses in breast cancer with BRCA pathogenic sequence variants, 2.Osaka Metropolitan University Gradueate School of Medicine, Department of Medical Genetics, 3.Osaka Metropolitan University Gradueate School of Medicine, Molecular Oncology and Therapeutics)

[P3-03-2]Outcomes of Risk-Reducing Surgeries for Hereditary Breast and Ovarian Cancer Syndrome at Nagoya University Hospital

^○Kazumasa Mogi^1,2, Maki Morikawa¹, Mami Morita¹, Miki Hatakeyama¹, Tatsuo Inamura², Emiri Miyamoto², Hiroki Fujimoto², Atsushi Kunishima², Yuki Nishiko², Yuko Yasui², Shohei Iyoshi², Masato Yoshihara², Tamauchi Satoshi², Akira Yokoi², Chiaki Kondo¹, Kaoru Niimi², Hiroaki Kajiyama², Yuichi Ando¹
(1.Department of Medical Genomics Center, Nagoya University Hospital, Aichi, Japan, 2.Departmet of Obstetrics and Gynecology, Nagoya University Hospital, Aichi, Japan)

[P3-03-3]Detection of Structural Variants in the USH2A Gene Associated with Usher Syndrome Using Nanopore Long-Read Sequencing

^○Hideaki Moteki¹, Shin-ya Nishio², Shin-ichi Usami²
(1.Aizawa Hospital, Department of Otolaryngology, 2.Department of Hearing Implant Sciences, Shinshu University School of Medicine)

[P3-03-4]A case of the causes of congenital hearing loss had been identified by whole-genome sequencing

^○Masao Araki^1,2, Naomi Araki¹, Rika Kawata¹, Hajime Sano³, Asuka Hori⁴, Kenichiro Hata^4,5, Fumio Takada^1,6
(1.Genetics Division, Department of Genetics, Kitasato University Hospital, Sagamihara, Japan, 2.Kanagawa Prefectural Welfare Federation of Agricultural Cooperative, Sagamihara Kyodo Hospital, Sagamihara, Japan, 3.School of Allied Health Sciences, Kitasato University, Sagamihara, Japan, 4.Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan, 5.Department of Molecular and Cellular Biology, Gunma University Graduate School of Medicine, Maebashi, Japan, 6.Department of Medical Genetics and Genomics, Kitasato University Graduate School of Medical Sciences, Sagamihara, Japan)

[P3-03-5]Initiative on Rare and Undiagnosed Diseases(IRUD) at Ehime University Hospital

^○Erina Ozaki^1,2, Kyoko Moritani³, Yuzuki Oki³, Miho Nagata⁴, Yasuki Ishihara^4,5, Yohei Miyashita^4,5,6, Yoshihiro Asano^4,5,6, Minenori Ishimae³, Mariko Eguchi^2,3
(1.Total Medical Support Center, Ehime University Hospital,Toon,Japan, 2.Division of Medical Genetics, Ehime University Hospital,Toon Japan, 3.Department of Pediatrics, Ehime University Hospital,Toon Japan, 4.Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine,Suita,Japan, 5.Biobank, Open Innovation Center, National Cerebral and Cardiovascular Center, Osaka, Japan, 6.Department of Genomic Medicine, National Cerebral and Cardiovascular Center, Osaka, Japan)

[P3-03-6]Genome-wide association study identifies candidate loci associated with postoperative nausea/vomiting and sedation

^○Daisuke Nishizawa¹, Tsutomu Mieda², Miki Tsujita³, Hideyuki Nakagawa³, Shigeki Yamaguchi⁴, Shinya Kasai¹, Junko Hasegawa¹, Yuko Ebata¹, Kyoko Nakayama¹, Akira Kitamura³, Masakazu Hayashida^1,3,5, Kazutaka Ikeda^1,6
(1.Addictive Substance Project, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan, 2.Department of Anesthesiology, Saitama Medical University Hospital, Saitama, Japan, 3.Department of Anesthesiology, Saitama Medical University International Medical Center, Saitama, Japan, 4.Department of Gastroenterological Surgery, Saitama Medical University International Medical Center, Saitama, Japan, 5.Department of Anesthesiology & Pain Medicine, Juntendo University School of Medicine, Tokyo, Japan, 6.Department of Neuropsychopharmacology, National Institute of Neurology and Psychiatry, Tokyo, Japan)

[P3-03-7]An effective kinship determination approach for microarray-based SNP profiles in practical forensic operations

^○Kayoko Yagasaki¹, Colleen Fitzpatrick², Michael D. Coble^3,4
(1.Forensic Science Laboratory, Tokyo Metropolitan Police Department, Tokyo, Japan, 2.Identifinders International LLC, Fountain Valley, California, USA, 3.Center for Human Identification, University of North Texas Health Science Center, Fort Worth, Texas, USA, 4.Department of Microbiology, Immunology and Genetics, University of North Texas Health Science Center, Fort Worth, Texas, USA)

[P3-03-8]Development of viral therapy using mesenchymal stem cells as virus carriers for peritoneally disseminated cancer

^○Shuji Kubo¹, Yuya Takeuchi^1,2, Nao Ogawa^1,2, Emiko Sonoda-Fukuda¹, Noriyuki Kasahara³
(1.Laboratory of Molecular and Genetic Therapeutics, Institute for Advanced Medical Sciences, Hyogo Medical University, 2.Departments of Biomedical Chemistry, School of Science and Technology, Kwansei Gakuin University, 3.Departments of Neurological Surgery and Radiation Oncology, University of California, San Francisco)

[P3-03-9]A case of vascular Ehlers-Danlos syndrome, which is difficult to diagnose and required repeated single-gene testing

^○Shinichiro Shimizu
(Department of Pathology, Funabashi Municipal Medical Center, Chiba, Japan)

[P3-03-10]A family with Hirschsprung's disease with a RET gene variant

^○Yuko Tanaka¹, Hiroshi Suzumura², Hiromi Yuasa³, Miyuki Muramatsu¹, Kan Suzuki⁴, Kazuyuki Ishida⁵
(1.Department of Cancer Genome, Dokkyo Medical University, Tochigi, Japan, 2.Division of Pediatrics, Dokkyo Medical University, 3.Hematology and Oncology, Dokkyo Medical University, 4.Division of Pediatric Surgery, Surgical Oncology Graduate School of Medicine Dokkyo Medical University, 5.Department of Diagnostic Pathology, Dokkyo Medical University)

[P3-03-11]Genomics and Medical Research Coordinator (GMRC): the system and current status

^○Midori Yamamoto¹, Kaori Muto²
(1.Department of Sustainable Health Science, Center for Preventive Medical Sciences, Chiba University, Chiba, Japan, 2.Department of Public Policy, The Institute of Medical Science, The University of Tokyo, Tokyo, Japan)

[P3-03-12]Association of CYP gene polymorphisms with adverse events and blood levels of vancomycin administration

^○Marina Nakamura¹, Yuka Nagasaki², Youichi Sato²
(1.Department of Pharmaceutical Information Science, Faculty of Pharmaceutical Sciences, Tokushima University, 2.Department of Pharmaceutical Information Science, Tokushima University Graduate School of Biomedical Sciences)

[P3-03-13]Survey on extracting requirements for fertility institutions offering genetic medicine in Shizuoka prefecture

^○Yuki Mizuguchi^1,2,3, Yasue Horiuchi³, Takeshi Usui³, Osamu Mochizuki^3,5, Hidehiko Miyake^3,6, Yuichi Goto^3,7, Kou Sueoka^3,4
(1.Obstetrics and Gynecology, Nasu Red Cross Hospital, Tochigi, Japan, 2.Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan, 3.Graduate School of Public Health, Shizuoka Graduate University of Public Health, Shizuoka, Japan, 4.Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan, 5.Inagaki Ladies Clinic, Shizuoka, Japan, 6.Ochanomizu University, Tokyo, Japan,, 7.National Center for Global Health and Medicine, Tokyo, Japan)

[P3-03-14]Decrease of inactivated X chromosomes contributes to artifacts in NGS analysis

^○Yuri Murase¹, Yui Shichiri¹, Hidehito Inagaki¹, Eiji Sugihara², Yoshiharu Nakaoka³, Yoshiharu Morimoto⁴, Tomoko Ichikawa⁵, Hiroki Kurahashi¹
(1.Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Aichi, Japan, 2.Open Facility Center, Research Promotion Headquarters, Fujita Health University, Aichi, Japan, 3.IVF Namba Clinic, Osaka, Japan, 4.HORAC Grandfront Osaka Clinic, Osaka, Japan, 5.Department of Obstetrics and Gynecology, Nippon Medical School, Tokyo, Japan)

[P3-03-15]Survey on Challenges for Establishing a System within Shizuoka Prefecture at Medical Institutions of Genetic Disorders

^○Kou Sueoka^1,2, Yuki Mizuguchi^1,3,4, Yasue Horiuchi¹, Takeshi Usui¹, Osamu Mochizuki^1,5, Hidehiko Miyake^1,6, Yuichi Goto^1,7
(1.Graduate School of Public Health, Shizuoka Graduate University of Public Health, Shizuoka, Japan, 2.Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan, 3.Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan, 4.Obstetrics and Gynecology, Nasu Red Cross Hospital, Tochigi, Japan, 5.Inagaki Ladies Clinic, Shizuoka, Japan, 6.Ochanomizu University, Tokyo, Japan,, 7.National Center for Global Health and Medicine, Tokyo, Japan)

[P3-04-1]Clinical evaluation of advanced and recurrent breast cancer patients undergoing comprehensive genomic profiling test

^○Jun Yamamura, Maika Yoshioka, Yukiko Miyamura, Shunji Kamigaki, Riyo Yoshii
(Sakai City Medical Center)

[P3-04-2]Cascade genetic testing for HBOC relatives: verified from 117 families' genetic counseling

^○Keika Kaneko¹, Akito Dobashi², Hiromi Arakawa¹, Eri Habano¹, Yuko Minoura¹, Asami Kuga¹, Kota Ishioka¹, Naomi Hayashi¹, Takahiro Kogawa¹, Arisa Ueki¹
(1.The Cancer Institute Hospital, Japanese Foundation for Cancer Research, Tokyo, Japan, 2.The Cancer Institute, Japanese Foundation for Cancer Research)

[P3-04-3]Two cases in which BRACAnalysis results changed from VUS to Mutation identified with Special Interpretation

^○Yui Niwa¹, Emiko Niiro^1,2, Hajime Yasuhara^1,3, Chiharu Yoshimoto^1,2, Toshiyuki Sado^1,2
(1.Department of Medical Genetics, Nara Prefecture General Medical Center, Nara, Japan, 2.Department of Obstetrics and gynecology, Nara Prefecture General Medical Center, 3.Neonatal Intensive Care Unit, Nara Prefecture General Medical Center)

[P3-04-4]Outcome of Risk Reducing Laparoscopic Salpingo-oophorectomy for Hereditary Breast and Ovarian Cancer

^○Yayoi Higuchi¹, Chiaki Izumiya¹, Takuya Matsuura¹, Yusuke Ujihara¹, Takashi Ushiwaka¹, Mari Tashiro², Toru Kubo^2,3, Nagamasa Maeda¹
(1.Department of Obstetrics and Gynecology, Kochi Medical School Hospital, 2.Department of Clinical Genetics, Kochi Medical School Hospital, 3.Department of Cardiology and Geriatrics, Kochi Medical School Hospital)

[P3-04-5]Six cases of HBOC off-tumor with PGPV of BRCA identified through comprehensive cancer genome profiling testing

^○Mihoko Doi^1,5, Kanako Iwami¹, Hanae Satano¹, Midori Noma^1,2, Yuko Shiroyama^1,3, Shunsuke Shinmei⁴, Mitsuru Kajiwara⁴, Takehiko Morioka⁵, Katsunori Shinozaki⁵, Nobuhisa Ishikawa⁶, Takashi Nishisaka^1,7
(1.Department of Genomic Medicine, Hiroshima Prefectural Hospital, Hiroshima, Japan, 2.Department of Breast Surgery, Hiroshima Prefectural Hospital, Hiroshima, Japan, 3.Department of Obstetrics and Gynecology, Hiroshima Prefectural Hospital, Hiroshima, Japan, 4.Department of Urology, Hiroshima Prefectural Hospital, Hiroshima, Japan, 5.Division of Clinical Oncology, Hiroshima Prefectural Hospital, Hiroshima, Japan, 6.Department of Respiratory Medicine, Hiroshima Prefectural Hospital, Hiroshima, Japan, 7.Department of Pathology and Laboratory Medicine, Hiroshima Prefectural Hospital, Hiroshima, Japan)

[P3-04-6]Challenges Insighted from Risk-Reducing salpingo-oophorectomy (RRSO) in Women with HBOC

^○Yumi Matsuyama^1,2,5, Hisanori Matsumoto^1,4, Kaori Akazawa³, Eri Ogura⁴, Yusuke Fujikami⁴, Kana Akagi⁴, Kenji Ban⁴, Takako Tobiume⁴, Keiji Tatsumi⁴, Yonehiro Kanemura^1,2, Hiroyuki Yasojima^1,3
(1.Clinical Genetics Center, NHO Osaka National Hospital, Osaka, Japan, 2.Division of Molecular Medicine, Department of Biomedical Research and Innovation, Institute for Clinical Research, NHO Osaka National Hospital, Osaka, Japan, 3.Department of Surgery, Breast Oncology, NHO Osaka National Hospital, Osaka, Japan, 4.Department of Obstetrics and Gynecology, NHO Osaka National Hospital, Osaka, Japan, 5.Clinical Genetics Center, Gifu University Hospital)

[P3-04-7]Analyzing Japanese familial breast cancer through whole exome sequencing analysis

^○Yosuke Matsushita¹, Ili Syazwana Abdullah¹, Yasuko Takahashi², Masato Komatsu², Kazuma Kiyotani², Yasuo Miyoshi³, Junko Honda⁴, Keiichi Kontani⁵, Shozo Ohsumi⁶, Mitsunori Sasa⁷, Toyomasa Katagiri^1,2
(1.Laboratory of Biofunctional molecular Medicine, National Institute of Biomedical Innovation, Health and Nutrition, Osaka, Japan, 2.Div. Genome Med., Inst. for Genome Res., Tokushima University, 3.Department of Breast and Endocrine Surg., Hyogo College of Med., 4.Department Surg. Natl. Hospital Org. Kochi Natl. Hospital, 5.Department Breast and Endocrine Surg., Kagawa University Hospital, 6.Department Breast Surg. Natl. Hospital Org. Shikoku Cancer Ctr., 7.Department Surg., Tokushima Breast Care Clinic)

[P3-04-8]An 18-year-old patient with gender incongruence and HBOC who underwent RRSO and BRRM simultaneously with SRS

^○Chiaki Kashino¹, Chikako Ogawa¹, Akiko Ohira¹, Junko Haraga¹, Takashi Mitsui¹, Eriko Eto¹, Yuko Takahashi², Tsuguo Iwatani², Tadahiko Shien², Risa Osumi³, Fumino Kato³, Mashu Futagawa³, Fukano Chika³, Hideki Yamamoto³, Akira Hirasawa³, Mikiya Nakatsuka⁴, Hisashi Masuyama¹
(1.Department of Obstetrics and Gynecology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan, 2.Department of Breast and Endocrine Surgery, Okayama University Hospital, 3.Department of Clinical Genetics, Okayama University Hospital, 4.Okayama University Graduate School of Health Sciences.)

[P3-04-9]Pathological Evaluation Methods in Contralateral Risk-reduction Mastectomy in Patients with BRCA Positive Breast Cancer

^○Ai Motoyoshi^1,2, Maho Ogiwara², Yuika Ono², Minami Ozawa², Yuki Suzuki², Yodo Sugishita², Kohei Yoshioka², Sachiko Ohori², Osuke Migita², Koichiro Tsugawa^1,2
(1.Department of Breast & Endocrine Surgery, St. Marianna University School of Medicine, Kanagawa, Japan, 2.Department of Genetic Medicine, St. Marianna University School of Medicine, Kanagawa, Japan)

[P3-04-10]Multidisciplinary team care for patient and relative with RAD51 germline pathogenic variant

^○Riyo Yoshii, Naoko Kawata, Takuhei Yokoyama, Jun Yamamura
(Sakai City Medical Center, Osaka, Japan)

[P3-04-11]Clinical Characteristics of ATM Germline Pathogenic Variants: Insights from 11 Families

^○Asami Kuga¹, Keika Kaneko¹, Hiromi Arakawa¹, Eri Habano¹, Yuko Minoura¹, Kota Ishioka¹, Naomi Hayashi¹, Akito Dobashi^1,2, Takahiro Kogawa¹, Arisa Ueki¹
(1.The Cancer Institute Hospital, Japanese Foundation for Cancer Research, 2.The Cancer Institute, Japanese Foundation for Cancer Research)

[P3-04-12]Matched-pair analysis of the blood and MSI-H tumor tissues from patients counseled due to suspicion of Lynch syndrome

^○Miho Ando¹, Sayuri Hiraoka¹, Keiichi Iwaya¹, Haruhiko Sugimura², Tadashi Nomizu³, Miki Okamura⁴, Shozo Osumi⁴, Moriya Iwaizumi⁵, Takahiro Yoshioka⁶, Aki Ishikawa⁷, Akihiro Sakurai⁷, Takeshi Kuwata⁸, Sekine Shigeki⁹, Manami Matsukawa¹⁰, Noriko Tanabe¹⁰, Makoto Hirata¹⁰, Teruhiko Yoshida¹⁰, Kokichi Sugano^1,10
(1.Department Genetic Medicine, Kyoundo Hospital, Sasaki Foundation, Tokyo, Japan, 2.Sasaki Institute, Sasaki Foundation, 3.Department of Surgery, Breast Cancer Center, Familial Tumor Clinic, Hoshi General Hospital, 4.Department of Hereditary Tumors, National Hospital Organization, Shikoku Cancer Center, 5.Clinical and Molecular Genetics Center, Hamamatsu University School of Medicine, 6.Department of Surgery, Kochi Health Sciences Center, 7.Department of Medical Genetics, Sapporo Medical University School of Medicine, 8.Department of Pathology and Clinical Laboratories, National Cancer Center Hospital East, 9.Department of Pathology, Keio University School of Medicine, 10.Department of Genetic Medicine and Services, National Cancer Center Hosp)

[P3-04-13]Genomic profiling of multiple tissues in two patients with multiple endocrine neoplasia type 1

^○Naruoka Akane¹, Sumiko Ohnami¹, Takashi Nagashima^1,2, Masakuni Serizawa¹, Keiichi Hatakeyama¹, Keiichi Ohshima¹, Shumpei Ohnami¹, Yasue Horiuchi^1,3, Yoshimi Kiyozumi³, Hiroyuki Matsubayashi³, Kenichi Urakami¹, Yasuto Akiyama¹, Yamaguchi Ken^1,3
(1.Shizuoka Cancer Center Research Institute, Nagaizumi-cho, Japan, 2.SRL Inc., 3.Shizuoka Cancer Center Hospital)

[P3-04-14]Two cases of surveillance using DWIBS in Li-Fraumeni syndrome

^○Sawaka Yukishige¹, Hiroaki Inoue¹, Tomohiro Inui¹, Soichiro Sasa¹, Mariko Misaki¹, Masakazu Goto¹, Hiroyuki Morino², Yukiko Yoshida², Yoko Miyamoto², Yoshie Imai³, Hiromitsu Takizawa¹
(1.Department of Thoracic, Endocrine Surgery and Oncology, Tokushima University Graduate School, Tokushima, Japan, 2.Clinical Genomic Center, Tokushima University Hospital, 3.Tokushima University Graduate School of Biomedical Sciences)

[P3-04-15]Increased Risk of Hepatocarcinogenesis through HBV Integration in Patients with a Good Prognosis and HBx Mutations

^○Nao Nishida¹, Masao Nagasaki², Masaya Sugiyama³, Takayo Tsuchiura¹, Miyuki Ishikawa³, Katsushi Tokunaga⁴
(1.Department of Genomic Function and Diversity, Medical Research Institute, Tokyo Medical and Dental University, 2.Human Biosciences Unit for the Top Global Course Center for the Promotion of Interdisciplinary Education and Research, Kyoto University, 3.Department of Viral Pathogenesis and Controls, National Center for Global Health and Medicine, 4.Genome Medical Science Project-Toyama, National Center for Global Health and Medicine)