Session Details

[P2-02]Poster Session 2-02 Cancer Genetics 2

Fri. Oct 11, 2024 6:00 PM - 7:00 PM JST
Fri. Oct 11, 2024 9:00 AM - 10:00 AM UTC
Poster Room

[P2-02-1]A survey on the characteristics of family history in the Japanese BRCA1 founder variant: c.188T>A (p.Leu63*)

Yosuke Katsube1,2, Mizuki Sudo1,2, Kako Minami3, Miki Nagatsuka2,3, Maiko Okano3,4, Ken Anzai5, Satoshi Hashimoto5, Masami Matsuzaki3, Naoto Katagata3, Ayaka Azami6, Mitsuhiro Nihei7, Tadashi Nomizu2,3 (1.Department of Genetic Counseling, Hoshi General Hospital, Fukushima, Japan, 2.Clinic of Hereditary Cancer, Hoshi General Hospital, Fukushima, Japan, 3.Department of Surgery, Hoshi General Hospital, Fukushima, Japan, 4.Department of Breast Surgery, School of Medicine, Fukushima Medical University, Fukushima, Japan, 5.Department of Obstetrics and Gynecology, Hoshi General Hospital, Fukushima, Japan, 6.Department of Surgery, Southern TOHOKU Research Institute for Neuroscience, Southern TOHOKU General Hospital, 7.Igarashi Internal Medicine and Surgery Clinic)

[P2-02-2]A case of HBOC with pancreatic cancer during breast cancer adjuvant treatment with olaparib

Tomoko Ito1, Koji Ohta1, Jun Kato2, Ikue Hata3 (1.Department of Surgery, Fukui Prefectural Hospital, Fukui, Japan, 2.Department of Obstetrics and Gynecology, Fukui Prefectural Hospital, Fukui, Japan, 3.Department of Pediatrics, Fukui Prefectural Hospital, Fukui, Japan)

[P2-02-3]A case of breast cancer treated with risk reducing salpingo-oophorectomy during long-term remission of bone metastasis

Toyokazu Oki1, Chiaki Izumiya2,3,4, Yayoi Higuchi3,4, Takashi Ushiwaka3,4, Yusuke Ujihara3,5, Takuya Matsuura3,4, Mari Tashiro3, Toru Kubo3,6 (1.Breast Center, Kochi Medical School Hospital, Kochi, Japan, 2.Kochi Kenshin Clinic, Kochi, Japan, 3.Department of Clinical Genetics, Kochi Medical School Hospital, Kochi, Japan, 4.Department of Gynecology, Kochi Medical School, Kochi, Japan, 5.Department of Gynecology, Kochi Prefectural Hata Kenmin Hospital, Kochi, Japan, 6.Department of Cardiology and Geriatrics, Kochi Medical School, Kochi, Japan)

[P2-02-4]Hereditary gastric cancer is linked with hereditary breast and ovarian cancer (HBOC)

Takuma Hayashi, Ikuo Konishi (Cancer Medicine, National Hospital Organization Kyoto Medical center)

[P2-02-5]A case of breast cancer patient with double heterozygosity for BRCA1 and BRCA2 genes

Kanako Tsukamoto, Satomi Dohi, Kako Kuroiwa, Rioko Iida, Kiichi Washida, Tomomi Minato, Ayaka Saito, Misuki Takano, Orie Kobayashi, Takafumi Watanabe (Musashino Red Cross Hospital)

[P2-02-6]A case of HBOC in which ovarian mucinous adenocarcinoma developed during ovarian cancer surveillance

Yoshiaki Yamagata (Department of Obstetrics and Gynecology, JCHO Tokuyma Central Hospital, Yamaguchi, Japan)

[P2-02-7]A case report of BRCA2 mutation with special interpretation in BRACAnalysis

Hirofumi Tsubouchi, Takuya Hayakawa, Yukiyo Tanaka, Masaaki Kitagawa, Chiharu Fukue, Jun Mizukawa, Sho Takeshita (Department of Obstetrics and Gynecology, Ichinomiya-nishi Hospital, Aichi, Japan)

[P2-02-8]Pedigree analysis of early-onset breast cancer patients with VUS in the BRCA2 gene

Ryoko Suzuki, Reiko Ohara, Hitomi Kondo, Miku Konta, Izumi Miyabe, Sana Yokoi (Chiba Cancer Center, Chiba, Japan)

[P2-02-9]Genetic test for hereditary breast and ovarian cancer in Tokyo Women's Medical University Adachi Medical Center

Yuko Ishibashi1, Hiroko Yukawa1, Yumi Anzai1,2, Asaka Kodera1,3, Saki Fujita1, Akira Hirano1 (1.Department of Breast Surgery, Tokyo Women's Medical University Adachi Medical Center, 2.Department of Breast Surgery, Sanwa Hospital, 3.Department of Breast Surgery, Saitama Prefectural Cancer Center)

[P2-02-10]BRCA1/2 reversion mutations in a pan-cancer cohort

Kohei Nakamura1,2, Kenta Masuda3,4, Tatsuyuki Chiyoda3, Wataru Yamagami3, Hiroshi Nishihara1 (1.Genomics Unit, Keio Cancer Center, Keio University School of Medicine, 2.Kumagaya general hospital, 3.Department of Obstetrics and Gynecology, Keio University School of Medicine, 4.Center of Medical Genomics, Keio University School of Medicine)

[P2-02-11]Identification of large insertion of SVA transposon in BRCA2 by whole genome and long-read sequencing: a case report

Satoyo Oda1,2, Takashi Kubo1, Kenichi Chiba3, Wataru Nakamura3, Manami Matsukawa2, Chikako Tomozawa2, Takafumi Koyama4, Kayoko Tao5, Yoshitaka Narita6, Hirotaka Matsui1, Teruhiko Yoshida2, Yuichi Shiraishi3, Sunami Kuniko1, Makoto Hirata2 (1.Department of Laboratory Medicine, National Cancer Center Hospital, 2.Department of Genetic Medicine and Services, National Cancer Center Hospital, 3.Department of Clinical Genomics, National Cancer Center Research Institute, 4.Department of Experimental Therapeutics, National Cancer Center Hospital, 5.Department of Pediatric Oncology, National Cancer Center Hospital, 6.Department of Neurosurgery and Neuro-Oncology, National Cancer Center Hospital)

[P2-02-12]Clinical management of HBOC in ovarian cancer patients at our hospital

Akiko Nonoshita, Akiko Nagano, Tiharu Tomonaga, Yoshikazu Otubo, Atsushi Yoshida, Daisuke Nakayama, Hiroshi Souda (Department of Medical Genome Center, Sasebo City General Hospital, Nagasaki, Japan)

[P2-02-13]Clinical features of primary and recurrent breast cancer patients undergoing BRACAnalysis

Kazuma Maeno1, Hiroki Morikawa1, Akihiro Shinji2, Yasushi Takagi3 (1.Department of Breast and Endocrine Surgery, Suwa Red Cross Hospital, Suwa, Japan, 2.Department of Oncology, Suwa Red Cross Hospital, 3.Department of Gynecology, Suwa Red Cross Hospital)

[P2-02-14]Genetic and Clinical observations of Japanese Patients of Hiroshima Prefecture with suspected Lynch Syndrome

Luyuan Qiu1, Shintaro Akabane2, Hikaru Nakahara3, Hiroaki Niitsu3, Masashi Miguchi4, Asuka Toshida3, Minoru Hattori5, Go Yamamoto6, Kiwamu Akagi6, Takao Hinoi3 (1.Division of Integrated Health Sciences Program of Biomedical Science, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan, 2.Department of Surgery, Graduate School of Biomedical and Health Sciences, Hiroshima University ,Hiroshima, Japan, 3.Genetic Medicine, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan, 4.Department of Gastroenterological Surgery, Hiroshima Prefectural Hospital, Hiroshima, Japan, 5.Center for Medical Education, Institute of Biomedical and Health Sciences,Hiroshima,Japan, 6.Department of Molecular Diagnosis and Cancer Prevention, Saitama Cancer Center Research Institute, Saitama, Japan)

[P2-02-15]A case of breast cancer diagnosed with Li-Fraumeni syndrome before surgery and avoidable postoperative radiotherapy

Michiko Tsuneizumi1,2, Sae Imada1, Shoko Sato1, Ryoichi Matsunuma1, Ryosuke Hayami1, Tatsunori Sato2, Yuji Kanazawa2, Masayo Ukita2, Rieko Kosugi2, Masashi Harasaki2, Takeshi Usui2,3,4 (1.Department of Breast Suregery, Shizuoka General Hospital, Shizuoka, Japan, 2.Department of Gentetics, Shizuoka General Hospital, Shizuoka, Japan, 3.Genomic Medical Center, Shizuoka General Hospital, Shizuoka, Japan, 4.Shizuoka Graduate University of Public Health, Shizuoka, Japan)

[P2-02-16]A Case of a Young Woman with Breast Cancer Diagnosed as Li-Fraumeni syndrome

Noriko Abe1,2, Reimi Sogawa2, Yumi Tanaka2, Miki Yonamine2, Mayumi Ikeuchi1, Reina Yajima1, Keiichi Kontani1, Kensuke Kumamoto2 (1.Breast and Endocrine Surgery, Kagawa University Hospital, Kagawa, Japan, 2.Clinical Genetics and Genomic Medicine, Kagawa University Hospital,Kagawa,Japan)

[P2-02-17]A hereditary diffuse gastric cancer case harboring germline pathogenic variant in CDH1 which located in intron 14

Miki Tsuboi1, Kastuaya Iuchi2, Go Yamamoto2, Tomokazu Wakatsuki2, Miho Kakuta2, Natsuki Naka2, Sachiko Kasuya2, Yumi Ikeda2, Kumi Sakoe2, Chie Matsue2, Akiko Matsutani2, Reiko Yoshida2, Nishimura Yu3, Yusuke Yoda4, Kiwamu Akagi2 (1.Department of Breast Oncology, Saitama Cancer Center, Saitama, Japan, 2.Department of Molecular Diagnosis and Cancer Prevention, Saitama Cancer Center, 3.Department of Pathology, Saitama Cancer Center, Saitama, 4.Department of Gastroenterology and Endoscopy, Saitama Cancer Center)

[P2-02-18]A case report of early gastric cancer detected by secondarily diagnosed pathogenic CDH1 germline mutation

Mako Ueda1, Toshihiko Tomita2, Masayuki Nagahashi3, Chinatsu Kinjo1, Chiho Okada1, Mina Kashima1, Eri Nakahara4, Hiroyuki Tanaka1, Tomoko Lee1, Nobuo Kanazawa1, Yasuhiro Takeshima1, Ayako Miyazaki1, Sawai Hideaki1 (1.Department of Clinical Genetics, Hyogo Medical Unibersity Hospital, Hyogo, Japan, 2.Department of Gastroenterology, Hyogo Medical Unibersity Hospital, Hyogo, Japan, 3.Department of Breast and Endocrine Surgery, Hyogo Medical Unibersity Hospital, Hyogo, Japan, 4.Hanabusa Women's Clineic, Hyogo, Japan)

[P2-02-19]A case of borderline malignant ovarian tumor arising in familial adenomatous polyposis

Takashi Nagai, Yorika Kato, Yasuhiro Matsuyama, Akira Aoyama, Tomomi Kosaka, Arina Sato, Mako Kobayashi, Keita Kuroda, Ayako Osafune, Tomokazu Umezu (Department of Obstetrics and Gynecology, Kariya Toyota General Hospital, Aichi, Japan)

[P2-02-20]A case of renal cell carcinoma suspected of hereditary leiomyomatosis and renal cell cancer by cancer genome testing

Noriko Nakatsugawa1,2,3, Takuhiko Inokuchi1, Yusuke Kanemasa1, Daichi Sadato1, Tomoyuki Aruga1, Shin-ichiro Horiguchi3, Toru Motoi3, Fumitaka Koga2, Tatsuro Yamaguchi1 (1.Department of Clinical Genetics, Tokyo Metropolitan Komagome Hospital, 2.Department of Urology, Tokyo Metropolitan Komagome Hospital, 3.Department of Pathology, Tokyo Metropolitan Komagome Hospital)

[P2-02-21]A case of gastric and breast cancer at a young age with suspect of TSC2/PKD1 contiguous gene deletion syndrome

Ayaka Sato1, Sachiko Tsunoda1, Nana Akiyama2, Yoshifumi Hamasaki3, Yosuke Hirakawa4, Akiko Iwasaki5, Moe Hidaka6, Mariko Tanaka5, Motohiro Kato6, Masahiko Tanabe1 (1.Department of Breast and Endocrine Surgery, University of Tokyo, Tokyo, Japan, 2.Department of Clinical Genomics, The University of Tokyo Hospital, 3.Department of Hemodialysis and Apheresis, The University of Tokyo Hospital, 4.Division of Nephrology and Endocrinology, The University of Tokyo Hospital, 5.Department of Pathology, The University of Tokyo Hospital, 6.Department of Pediatrics, The University of Tokyo Hospital)

[P2-02-22]A case of fetal-onset atypical teratoid/rhabdoid tumor with a heterozygous germline SMARCB1 loss-of-function alteration

Takeaki Tamura1, Katsuyoshi Shimozawa1, Koji Kanezawa1, Masataka Ito1, Erina Nakahara1, Koichiro Sumi2, Fumi Mori2, Hiroshi Umemura3, Keiko Shimojima Yamamoto4, Hiroshi Yagasaki1, Tomohiro Nakayama3, Toshiyuki Yamamoto4, Morioka Ichiro1 (1.Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan, 2.Department of Neurological Surgery, Nihon University School of Medicine, Tokyo, Japan, 3.Divisions of Laboratory Medicine, Department of Pathology and Microbiology, Nihon University School of Medicine, Tokyo, Japan, 4.Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan)

[P2-02-23]A case of endometrial cancer with a variants of uncertain significance in germline CDKN2A gene

Takafumi Watanabe1, Kazuyo Kiribayashi2, Akira Hirasawa3, Rioko Iida1, Tomomi Kikuchi1, Kako Kuroiwa1, Kiichi Washida1, Ayaka Saito1, Mizuki Takano1, Orie Kobayashi1, Kanako Tsukamoto1 (1.Department of Obstetrics and Gynecology, Japanese Red Cross Musashino Hospital, Tokyo, Japan, 2.Clinical Genetics center, Tokyo Medical University Hospital, 3.Department of Clinical Genomic Medicine, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University)

[P2-02-24]Aggregation of the same EGFR driver mutation in a pedigree of lung adenocarcinoma

Michio Yasunami1,2, Hitomi Umeguchi3, Tomomi Kashiwada1,2, Daiki Murata3, Kentarou Iwanaga3 (1.Department of Medical Genomics, Medical Research Institute, Saga-ken Medical Centre Koseikan, Saga, Japan, 2.Department of Oncology, Saga-ken Medical Centre Koseikan, Saga, Japan, 3.Department of Respiratory Medicine, Saga-ken Medical Centre Koseikan, Saga, Japan)

[P2-02-25]Clinical Features Based on Genetic Variants among Upper Urinary Tract Urothelial Carcinoma

Mizuho Okawa1, Mio Wakai2, Yuko Tamaki2, Midori Shuhara2, Eiji Shimada1, Mayuko Takeda1, Yuuka Nagahama6, Orie Hoshino1, Hiroki Tanaka6, Nahomi Umemura2, Mizuki Kasahara1, Fumito Yamabe1, Mitsui Yozo1, Naobumi Tochigi3, Shinji Ujiie4, Kuri Aoki6, Eiyu Nozawa5, Koichi Nakajima1, Yukiko Katagiri2 (1.Department of Urology, Toho University Omori Medical Center, Tokyo, Japan, 2.Clinical Genetics Unit, Toho University Omori Medical Center, Tokyo, Japan, 3.Department of Pathology, Toho University Omori Medical Center, Tokyo, Japan, 4.Department of Clinical laboratory, Toho University Omori Medical Center, Tokyo, Japan, 5.Department of Urology, Japanese Red Cross Mito Hospital, Ibaraki, Japan, 6.Department of Urology, Tokyo Shinagawa Hospital, Tokyo, Japan)

[P2-02-26]A possible pitfall in variant analysis

Shoichiro Tange, Masashi Idogawa, Takashi Tokino (Department of Medical Genome Sciences, Cancer Research Institute, Sapporo Medical University, Sapporo, Japan)