The 71st Annual Meeting of the Japan Society of Human Genetics
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Session Details

Poster Session

[P1-04]Cancer Genetics 1

Thu. Nov 19, 2026 4:00 PM - 5:00 PM JST
Thu. Nov 19, 2026 7:00 AM - 8:00 AM UTC
Exhibition Hall 1-A+2 (4) (Exhibition Hall 1-A+2, Exhibition Building, Sendai International Center)

[P1-04-01]BRCA deleterious alterations in advanced prostate cancer: insights from the nationwide cancer genomic database

Hideyasu Tsumura1,2,3, Naomi Araki2, Rika Kawata2, Keiko Takahashi2, Masao Araki2, Uichiro Iida2, Mina Waraya2, Masako Honda2, Hironao Shirai2, Yoshihiro Yoshimura2, Kazumasa Matsumoto1, Fumio Takada2,3 (1. Department Urology, Kitasato University School of Medicine, 2. Genetics Division, Department of Genetics, Kitasato University Hospital, 3. Department of Medical Genetics and Genomics, Kitasato University Graduate School of Medical Sciences)

[P1-04-02]Expanded HBOC coverage, but disrupted cascade testing: multi-layered barriers revealed by CGP.

Mizuho Suzuki1,2, Yuko Ohnuki1,2, Tomoari Mori1,2, Ai Unzaki1,2, Misaki Momose3, Daisuke Ohugiya4, Naohiro Nishida5, Kei Takeshita1,2 (1. Department of Medical Ethics, Tokai University School of Medicine, Kanagawa, Japan, 2. Department of Clinical Genetics, Tokai University Hospital, 3. Department of Obstetrics and Gynecology, Tokai University Hospital, 4. Department of Hematology, Tokai University Hospital, 5. Department of Medical Oncology, Tokai University Hospital)

[P1-04-03]Distribution of BRCA1/2 Pathogenic Variants Identified by BRACAnalysis at a Single Japanese Center

Kazunori Nagasaka1,2, Sayuri Hiraoka1, Noriko Nakabayashi1, Motoko Sasaki1, Takahiro Seyama1,2, Tatsuhiko Ikeda1,3, Kiyotaka Watanabe4, Hiromitsu Jinno3, Koichiro Kido1,2, Yutaka Osuga1,2, Masakazu Mimaki1,5 (1. Clinical Genetics Center, Teikyo University Hospital, Tokyo, Japan, 2. Department of Obstetrics and Gynecology, Teikyo University, School of Medicine, Tokyo, Japan, 3. Department of Surgery, Breast Group, Teikyo University, School of Medicine, Tokyo, Japan, 4. Department of Internal Medicine, Teikyo University, School of Medicine, Tokyo, Japan, 5. Department of Pediatrics, Teikyo University, School of Medicine, Tokyo, Japan)

[P1-04-04]BRCA1/2 Pathogenic Variant Characteristics in HBOC Care at Our Hospital and Their Implications for Nursing Care

Kumiko Kitamura1,2, Hideo Tanaka3, Yukiko Kajiwara4, Mitsuya Itoh4, Maiko Ueda5, Madoka Sekino5, Masae Yorimitsu5, Yasuhiko Kamada5, Tomoko Sako6, Wataru Murao6, Yasuyuki Kobayashi6, Hideki Yamamoto1,7, Masyu Futagawa1,7, Akira Hirasawa1,7, Yasuhiro Shirakawa1,8 (1. Department of Clinical and Molecular Medicine, Hiroshima City Hospital, Hiroshima City Hospital Organization, 2. Department of Medical Support Center, Hiroshima City Hospital, Hiroshima City Hospital Organization, 3. Department of Clinical Laboratory, Hiroshima City Hospital, Hiroshima City Hospital Organization, 4. Department of Breast surgical oncology, Hiroshima City Hospital, Hiroshima City Hospital Organization, 5. Department of Obstetrics and gynecology, Hiroshima City Hospital, Hiroshima City Hospital Organization, 6. Department of Urology, Hiroshima City Hospital, Hiroshima City Hospital Organization, 7. Department of Clinical Genomic Medicine, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, 8. Department of surgery, Hiroshima City Hospital, Hiroshima City Hospital Organization)

[P1-04-05]Secondary Findings Identified Through Comprehensive Genomic Profiling: A Single-Institution Analysis of 100 Cases

Hajime Kikuchi1, Ryusuke Matsumoto1, Tatsuya Yoshioka1, Keisuke Kikuchi1, Masashi Moriwaki1, Shin Ariga2, Ichiro Kinoshita2, Masaaki Matsushima3, Takahiro Yamada3 (1. Obihiro-Kousei General Hospital, Obihiro, Japan, 2. Division of Clinical Cancer Genomics, Hokkaido University Hospital, Sapporo, Japan, 3. Division of Clinical Genetics, Hokkaido University Hospital, Sapporo, Japan)

[P1-04-06]Universal tumor screening for Lynch syndrome and real-world MGPT candidates in colorectal cancer

Takahiro Yoshioka, Tatsuo Kuwada, Tomohiko Yagi, Hiroaki Inoue, Ryo Inada (Dept of Gastroenterological Surgery, Kochi Health Sciences Center)

[P1-04-07]Real-World Barriers to Confirmatory and Cascade Testing Following Germline Findings from Comprehensive Genomic Profiling

Ayana Miura1,2, Tomohiro Kubo3, Aiko Seto1,2, Kaho Kato1,2, Yuko Takasu1,2, Kentaro Suda1,2, Tasuku Mariya1,2, Aki Ishikawa1,2, Akihiro Sakurai1,2,4 (1. Department of Clinical Genetics, Sapporo Medical University Hospital, 2. Department of Clinical Genomics, Division of Genomic and Preventive Medicine, Sapporo Medical University School of Medicine, 3. Department of Medical Oncology, Sapporo Medical University School of Medicine, 4. Genome Medicine Center, Tonan Hospital)

[P1-04-08]Current Practice of Reproductive and Preventive Care Support for BRCA1 and BRCA2 Variant Carriers

Keiko Terazawa1,3, Tomomi Shiga1,2,3, Kana Matsuhara3, Miwa Masuda1,3, Yoshimasa Bomoto2,3, Taro Kuwayama3, Saki Murase2,3, Kaori Otsuka3, Kyoko Kikuno3, Yukio Suzuki3, Yo Hayasaki3, Kimiko Asai2, Yumi Matsuyama2, Masanori Isobe1,3 (1. Gifu University Hospital Perinatal and Reproductive Medicine Center, 2. Gifu University Hospital Clinical Genetics Center, 3. Gifu University Hospital Obstetrics and Gynecology)

[P1-04-09]One Case with Two Pathogenic Variants in the BRCA2 Gene

Sayuri Hiraoka1, Tatsuhiko Ikeda2, Noriko Nakabayashi1, Motoko Sasaki1, Takahiro Seyama1,3, Kiyotaka Watanabe4, Hiromitsu Jinno5, Koichiro Kido1,3, Yutaka Osuga1,3, Masakazu Mimaki1,6, Kazunori Nagasaka1,3 (1. Clinical Genetics Center, Teikyo University Hospital, Tokyo, Japan, 2. Department of Surgery, Teikyo University, School of Medicine, Tokyo, Japan, 3. Department of Obstetrics and Gynecology, Teikyo University, School of Medicine, Tokyo, Japan, 4. Department of Internal Medicine, Teikyo University, School of Medicine, Tokyo, Japan, 5. Department of Surgery, Breast Group, Teikyo University, School of Medicine, Tokyo, Japan, 6. Department of Pediatrics, Teikyo University, School of Medicine, Tokyo, Japan)

[P1-04-10]Genetic counseling following identification of EGFR T790M by comprehensive genomic profiling in lung cancer

Ai Motoyoshi1,2,3, Sumire Sakai3, Nami Kyoi3, Minami Ozawa3,6, Yuki Suzuki3,5, Sachiko Ohori3,4, Ohsuke Migita3,4, Koichiro Tsugawa2,3 (1. Division of Gastroenterology & General Surgery, St. Marianna University Yokohama Seibu Hospital, Yokohama, Japan, 2. Department of Breast & Endocrine Surgery, St. Marianna University School of Medicine, 3. Department of Clinical Genetics, St. Marianna University School of Medicine, 4. Department of Laboratory Medicine, St. Marianna University School of Medicine, 5. Institute of Medical Science, St. Marianna University School of Medicine, 6. Devision of Pediatrics, Kawasaki Municipal Tama Hospital)

[P1-04-11]A case of juvenile gastric polyposis with germline SMAD4 mutation

Takenori Takahata1,2, Daisuke Chinda2,3, Shohei Igarashi2, Taka Asari2, Tetsuya Tatsuta2, Hidezumi Kikuchi2, Hiroki Maita4, Hirotake Sakuraba1,2 (1. Department of Community Medicine in Mutsu and Shimokita, Hirosaki University Graduate School of Medicine, 2. Department of Gastroenterology, Hematology and Clinical Immunology, Hirosaki University Graduate School of Medicine, 3. Aomori General Health Examination Center, 4. Department of General Medicine, Hirosaki University Hospital)

[P1-04-12]A Case of Peritoneal Cancer in which Comprehensive Cancer Genome Profiling Testing Was Useful for Diagnosis

Chiharu Tomonaga1, Akiko Nonoshita1,3, Akiko Nagano3, Kazuhiko Hashimoto2,3, Yasuhiro Maeda4, Atsushi Yoshida1, Yorihisa Sumida2,5 (1. Department of Obstetrics and Gynecology, Sasebo City General Hospital, 2. Genomic medical center, Sasebo City General Hospital, 3. Department of Pediatrics, Sasebo City General Hospital, 4. Depertment of Neurology, Sasebo City General Hospital, 5. Depertment of Gastroenterological Surgery, Sasebo City General Hospital)

[P1-04-13]A case of Lynch syndrome with advanced adrenal sarcoma

Sayaka Kawashita1, Megumi Matsumoto2, Riko Matsuda2, Takuya Honda3, Shoko Miura1,2, Sara Kusumoto1, Itsuki Kajimura1, Ai Nagata1, Yuri Hasegawa1, Kiyonori Miura1,2 (1. Department of Obstetrics and Gynecology, Nagasaki University, Nagasaki, Japan, 2. Clinical Genomics Center, Nagasaki University Hospital, 3. Clinical Oncology Center, Nagasaki University Hospital)

[P1-04-14]Spatial transcriptomics reveals the molecular pathological features of ERBB2-amplified colorectal cancer

Jumpei Takeshita, Takahiro Nishimura (Medical Research Institute KITANO Hospital Department of Medical Oncology)

[P1-04-15]A review of the cases detected germline pathogenic variants through cancer genome panel testing in our institute.

Yuichiro Inagaki1,2, Junko Arima3, Norihiro Sugiura4 (1. Department of Oncology, Anjo Kosei Hospital, 2. Department of Hematolog, Anjo Kosei Hospital, 3. Division of Nursing, Anjo Kosei Hospital, 4. Clinical laboratory, Anjo Kosei Hospital)

[P1-04-16]Experience of Multigene Panel Testing for At-Risk Relatives from Lynch Syndrome Families; its benefits and issues

Mina Kashima1, Yukiko Yoshimoto1,2, Tazuko Inoue1, Yuki Iwano1, Sachiko Takahara1 (1. Department of Breast Surgery, Medical Research Institute Kitano Hospital, 2. Department of Breast Surgery, Hyogo Prefectural Amagasaki General Medical Center)

[P1-04-17]Validating Germline Structural Variants from Short-Read WGS Using Nanopore Target Adaptive Sampling Long-Read Sequencing

Satoyo Oda1,2, Kenichi Chiba3, Takashi Kubo1, Manami Matsukawa2, Akane Sei4, Hiroyuki Fujii1, Kayoko Tao2, Takafumi Koyama5, Fumito Yamazaki2, Hirotaka Matsui1, Noboru Yamamoto5, Kuniko Sunami1, Yuichi Shiraishi3, Makoto Hirata2 (1. Department of Laboratory Medicine, National Cancer Center Hospital Japan, 2. Department of Genetic Medicine and Services, National Cancer Center Hospital Japan, 3. Division of Genome Analysis Platform Development, National Cancer Center Japan, 4. Division of Molecular Pathology, National Cancer Center Japan, 5. Department of Experimental Therapeutics, National Cancer Center Hospital Japan)

[P1-04-18]Hereditary breast and ovarian cancer diagnosed through comprehensive genomic profiling in a young lung cancer patient

Yoshiko Mori1, Noriko Tanabe1, Kazutsugu Uematsu2, Sachi Kitayama1, Madoka Ogata1, Okihide Suzuki1, Hideyuki Ishida1 (1. Department of Clinical Genetics, Saitama Medical Center, Saitama Medical University, 2. Department of Respiratory Medicine, Saitama Medical Center, Saitama Medical University)
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