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ゲノム医療推進部　論文

2024年度

  1. Eiko Ishihara, Hiroyuki Matsubayashi, Seiichiro Nishimura, Mitsuhiro Isaka, Hayato Konno, Seiya Goto, Ken Yamaguchi, and Kenichi Urakami. Four cancer cases with pathological germline variant RAD51D270_271dup. J Obstetric Gynecol Res 2024;50(9):1742-1747. doi: 10.1111/jog.16045. PMID: 39117461.
  2. Yoshimi Kiyozumi, Hiroyuki Matsubayashi, Akiko Todaka, Ryo Ashida, Seiichiro Nishimura, Nobuhiro Kado, Satomi Higashigawa, Rina Harada, Eiko Ishihara, Yasue Horiuchi, Goichi Honda, Hirotsugu Kenmotsu, Masakuni Serizawa, Kenichi Urakami. Two Japanese families with familial pancreatic cancer with suspected pathogenic variants of Hered Cancer Clin Pract 2024;22(1):11. doi: 10.1186/s13053-024-00283-7. PMID: 38961426 
  3. 松林宏行. 婦人科腫瘍遺伝カウンセリングマニュアル 改訂2版. 遺伝性乳がん卵巣がん症候群, H. 遺伝性乳がん卵巣がん症候群と膵がん, 中外医学社, 2024, p76-79.
  4. Hiroyuki Matsubayashi, Chigusa Morizane. Familial and hereditary pancreastic cancer in Japan. Fam Cancer 2024;23(3):365-372. doi: 10.1007/s10689-024-00395-y. PMID: 38733422.
  5. Hiroyuki Matsubayashi, Akiko Todaka, Katsuhiko Uesaka, Yoshimi Kiyozumi, Rina Harada, Eiko Ishihara, Satomi Higashigawa, Nobuyuki Ohike, and Kentaro Yamazaki. The response of pancreatic acinar cell carcinoma to platinum and olaparib therapy in a germline BRCA2 variant carrier: case report and literature review. Fam Cancer 2024;23(3):393-398.doi: 10.1007/s10689-024-00390-3.
  6. Hiroyuki Matsubayashi, Yoshimi Kiyozumi, Rina Harada, Takashi Mukaigawa, Teichi Sugiura, Hirotoshi Ishiwatari, Junya Sato, Fumitaka Niiya, Kazuaki Nakashima, Nobuhiro Kado, Seiichiro Nishimura, Goichi Honda, and Nobuyuki Ohike. A Japanese Family Meeting the Clinical Diagnostic Criteria for MEN1 with a MEN1 Variant of Uncertain Significance. Intern Med 2024;63(8):1119-1123. PMID: 37661450, doi: 10.2169/internalmedicine.2300-23.

2023年度

  1. Rina Harada, Hiroyuki Matsubayashi, Yoshimi Kiyozumi, Haruki Kobayashi, Koichi Mitsuya, Kenichiro Imai, Yoichi Yamamoto, Takuma Oishi, Nobuhiro Kado, Seiichiro Nishimura, Satomi Higashigawa, and Masakuni Serizawa. A Japanese case of ovarian mucinous adenocarcinoma with germline double variants of MSH2 and J Human Genet 2023, 68(11):783-787. PMID: 37420004, doi: 10.1038/s10038-023-01178-6.
  2. Yoshimi Kiyozumi, Keisuke Goto, Shusuke Yoshikawa, Yoshio Kiyohara, Takahiro Tsushima, Nobuhiro Kado, Seiichiro Nishimura, Satomi Higashigawa, Rina Harada, Kana Kunitomo, Naomi Fukuzaki, and Hiroyuki Matsubayashi. A Japanese case of familial malignant melanoma with germline CDK4 variant incidentally diagnosed by cancer genome profiling. J Human Genet 2023, 68(5):359-61. PMID: 36631500, doi: 10.1038/s10038-022-01110-4.
  3. Hiroyuki Matsubayashi, Takuma Oishi, Keiko Sasaki, Masato Abe, Yoshimi Kiyozumi, Satomi Higashigawa, Fumitaka Niiya, Junya Sato, Hirotoshi Ishiwatari, Kenichiro Imai, Kinichi Hotta, Yoshihiro Kishida, Kazunori Takada, Hiroyuki Ono, Kentaro Yamazaki, Hirofumi Yasui, Hirotsugu Kenmotsu, Nobuhiro Kado, Hiroyasu Kagawa, Akio Shiomi, Teichi Sugiura, Etsuro Bando, Seiichiro Nishimura, Keiichi Hatakeyama, Masakuni Serizawa, Rina Harada, Takashi Sugino. Discordance of microsatellite instability and mismatch repair immunochemistry occurs depending on the cancer type. Human Pathology 2023;135:54-64, PMID: 36596344, doi: 10.1016/j.humpath.2022.12.016.
  4. Hiroyuki Matsubayashi, Akiko Todaka, Kunihiro Fushiki, Takeshi Kawakami, Yokota, Satomi Higashigawa, Yoshimi Kiyozumi, Rina Harada, Nobuhiro Kado, · Seiichiro Nishimura, Hirotoshi Ishiwatari, Teiichi Sugiura, Hirofumi Yasui, Kentaro Yamazaki. Genetic medicine in companion diagnostics of germline BRCA testing in cases with Japanese pancreatic cancer patients. J Hum Genet 2023;68(2):81-86. PMID: 36482120, doi: 10.1038/s10038-022-01097-y.
  5. Hiroyuki Matsubayashi, Takeo Kosaka, Reiko Yoshida, and Arisa Ueki. A commentary on Helicobacter pylori and gastric cancer risk in BRCA1/2 pathogenic germline variant carrier. J Hum Genet. 2023;68(10):727-728. PMID: 37414821,doi: 10.1038/s10038-023-01183-9.
  6. Hiroyuki Matsubayashi, Akiko Todaka, Hirotoshi Ishiwatari, Junya Sato, Fumitaka Niiya, Toshikazu Kondo, Hiroyuki Ono, Kentaro Yamazaki, Keiko Sasaki, and Yoshimi Kiyozumi. Discordant Microsatellite Instability Findings in Two Samples from a Patient with Biliary Cancer that Responded to Pembrolizumab. Clin J Gastroenterol, 2023;16(5):748-754. PMID:37490248, doi: 10.1007/s12328-023-01833-7.
  7. Arisa Ueki, Reiko Yoshida, Takeo Kosaka,Hiroyuki Matsubayashi. Clinical risk management of breast, ovarian, pancreatic, and prostatic cancers for BRCA1/2 variant carriers in Japan. J Hum Genet. 2023;68(8):517-526. PMID: 37088789, doi: 10.1038/s10038-023-01153-1.
  8. 松林宏行. 024家族性膵癌サーベイランス、025膵癌遺伝性リスク保有者（膵炎症例）家族歴からBRCA1/2遺伝学的検査、 026遺伝性乳癌膵癌コンパニオン診断ケース, 遺伝性腫瘍ケーススタディ100一般社団法人　遺伝性腫瘍学会監修　へるす出版 編集責任者：石田秀行. P107-109, 2023年.

2022年度

  1. Hiroyuki Matsubayashi, Satomi Higashigawa, Yoshimi Kiyozumi, Takuma Oishi, Keiko Sasaki, Hirotoshi Ishiwatari, Kenichiro Imai, Kinichi Hotta, Yohei Yabuuchi, Kazuma Ishikawa, Tatsunori Satoh, Hiroyuki Ono, Akiko Todaka, Takeshi Kawakami, Hiromichi Shirasu, Hirofumi Yasui, Teichi Sugiura, Katsuhiko Uesaka, Hiroyasu Kagawa, Akio Shiomi, Nobuhiro Kado, Yasuyuki Hirashima, Yoshio Kiyohara, Etsuro Bando, Masashi Niwakawa, Seiichiro Nishimura, Takeshi Aramaki, Nobuaki Mamesaya, Hirotsugu Kenmotsu, Yasue Horiuchi, Masakuni Serizawa. Microsatellite instability is biased in Amsterdam II-defined Lynch-related cancer cases with family history but is rare in other cancers: A summary of 1,000 analyses. BMC Cancer 2022;22(1): 73. PMID: 35039004, doi: 10.1186/s12885-022-09172-5.
  2. Satomi Higashigawa, Hiroyuki Matsubayashi, Yoshimi Kiyozumi, Nobuhiro Kado,  Seiichiro Nishimura, Takuma Oishi, Takashi Sugino, Kunihiro Fushiki, Hiromichi Shirasu, Hirofumi Yasui, Nobuaki Mamesaya, Naomi Fukuzaki, Kana Kunitomo, Yasue Horiuchi, Hirotsugu Kenmotsu, Masakuni Serizawa, (SCC Expert Panel Group). Present status of germline findings in precision medicine for Japanese cancer patients: issues in the current system. JJCO 2022;52(6):599-608.

2021年度

  1. Yasue Horiuchi, Hiroyoruki Matsubayashi, Yoshimi Kiyozumi, Seiichiro Nishimura, Satomi Higashigawa, Nobuhiro Kado, Takeshi Nagashima, Maki Mizuguchi, Sumiko Ohnami, Kenichi Urakami, Masatoshi Kusuhara, Ken Yamaguchi. Disclosure of secondary findings in exome sequencing of 2480 Japanese cancer patients. Human Genet 2021;140(2):321-331.
  2. Yoshimi Kiyozumi, Hiroyuki Matsubayashi, Satomi Higashigawa, Yasue Horiuchi, Nobuhiro Kado, Yasuyuki Hirashima, Akio Shiomi, Takuma Oishi, Sumiko Ohnami, Keiichi Ohshima, Kenichi Urakami, Takeshi Nagashima, Ken Yamaguchi. Role of Tumor Mutation Burden Analysis in Detecting Lynch Syndrome in Precision Medicine: Analysis of 2,501 Japanese Cancer Patients. Cancer Epidemiol Biomarkers Prev. 2021;30(1):166-174

2020年度

  1. Hiroyuki Matsubayashi, Kenji Notohara, Ralph H Hruban, Tatsunori Satoh, Junichi Kaneko, Junya Sato, Hirotoshi Ishiwatari, Ryo Ashida, Katsuhiko Uesaka, Hiroyuki Ono. Multiple carcinomas and intraepithelial neoplasms in a case of familial pancreatic cancer: Rapid morphological change of the pancreatic cyst and pathological lesions undetected by the images. Intern Med, 59(8):1041-1046, 2020
  2. 松林宏行, 東川智美, 浄住佳美, 堀内泰江, 角暢浩, 西村誠一郎, 白数洋充, 安井博史, 豆鞘伸昭, 石田裕二, 大石琢磨, 芹澤昌邦, 栃久保順平, 釼持広知. 外科医が知っておくべき遺伝性腫瘍. 臨床外科 2020;75(8):900-906.
  3. 松林宏行, 浄住佳美, 東川智美, 白数洋充, 杉浦禎一, 芹澤昌邦,釼持広知, 石渡裕俊, 佐藤辰宣, 石川和真, 安井博史, 小野裕之. 家族性膵癌とわかった場合の対応を教えて下さい. 胆膵Oncology Forum 2020;1(1);31-33.

2019年度

  1. Yoshimi Kiyozumi, Hiroyuki Matsubayashi, Yasue Horiuchi, Satomi Higashigawa, Takuma Oishi, Masato Abe, Sumiko Ohnami, Kenichi Urakami, Takeshi Nagashima, Masatoshi Kusuhara, Hidehiko Miyake, and Ken Yamaguchi. Germline Mismatch-repair Gene Variants Analyzed by Universal Sequencing in Japanese Cancer Patients. Cancer Medicine, 2019;8(12):5534-5543.
  2. Hiroyuki Matsubayashi, Hirotoshi Ishiwatari, Yoshimi Kiyozumi, Satomi Higashigawa, Hiroyuki Ono. Surveillance of Individuals with a Family History of Pancreatic Cancer and Inherited Cancer Syndromes: A Strategy for Detecting Early Pancreatic Cancers. Diagnostics. 2019;9(4). pii: E169.
  3. Hiroyuki Matsubayashi, Satomi Higashigawa, Yoshimi Kiyozumi, Yasue Horiuchi, Yasuyuki Hirashima, Nobuhiro Kado, Masato Abe, Takuma Ohishi, Sumiko Ohnami, Kenichi Urakami, Ken Yamaguchi. Metachronous ovarian endometrioid carcinomas in a patient with a PTEN variant: Incidentally detected Cowden syndrome. BMC Cancer, 2019;19(1):1014.
  4. Hiroyuki Matsubayashi, Kyoichi Takaori, Chigusa Morizane, Yoshimi Kiyozumi. Familial pancreatic cancer and surveillance of the high-risk individuals. Gut and Liver, 2019;13(5):498-505.
  5. 浄住佳美, 松林宏行, 堀内泰江, 楠原正俊. 二次的所見と遺伝カウンセリング：静岡がんセンタープロジェクトHOPEの経験. 病理と臨床 2019;37(6):535-540.
  6. 松林宏行, 石渡裕俊, 佐藤辰宣, 福冨晃, 上坂克彦, 浄住佳美, 小野裕之. 講座「家族性膵癌」 臨床消化器内科 2019;34(9):1180-1186.
  7. 松林宏行, 浄住佳美, 東川智美, 堀内泰江, 西村誠一郎, 角暢浩, 長嶋剛史, 水口魔己, 浦上研一, 楠原正俊, 山口建. 臨床医として遺伝医療に期待すること. －静岡がんセンターProject HOPEの経験を踏まえて－日本遺伝カウンセリング学会誌 2019;40(1):15-20.

2018年度

  1. Yoshimi Kiyozumi, Hiroyuki Matsubayashi, Yasue Horiuchi, Takuma Oishi, Masato Abe, Sumiko Ohnami, Akane Naruoka, Masatoshi Kusuhara, Ken Yamaguchi. A novel MLH1 intronic variant in a young Japanese patient with Lynch syndrome. Hum Genome Variation 2018;5:3.
  2. Sunao Uemura, Hiroyuki Matsubayashi, Yoshimi Kiyozumi, Katsuhiko Uesaka, Yusuke Yamamoto, Keiko Sasaki, Masato Abe, Kenichi Urakami, Masatoshi Kusuhara, Ken Yamaguchi. Pancreatic adenocarcinoma with a germline PTENArg234Gln mutation. Familial Cancer 2018;17(2):255-9.
  3. 浄住佳美, 松林宏行, 堀内泰江, 楠原正俊. 二次的所見とその対応 – 静岡がんセンタープロジェクトHOPEの経緯 – 遺伝子医学MOOK 2018;34:172-178.
  4. 浄住佳美,堀内泰江, 西村誠一郎, 角暢浩, 水口魔己, 下田勇治, 長嶋剛志, 沼部博直, 浦上研一, 楠原正俊, 山口建, 松林宏行. 臨床ゲノム研究における二次的所見の結果開示と遺伝カウンセリングシステムの検討 –静岡がんセンタープロジェクトHOPEにおける試みから–. 日本遺伝カウンセリング学会誌 2018;39(3):129-138.
  5. 松林宏行. 「意外に多い膵の遺伝性疾患」ワンポイントアドバイス, Medical Practice, 2018;35:3:481.

2017年度

  1. Hiroyuki Matsubayashi, Kyoichi Takaori, Chigusa Morizane, Hiroyuki Maguchi, Masamichi Mizuma, Hideaki Takahashi, Keita Wada, Shinichi Yachida, Toru Furukawa, Makoto Ueno, Yoshimi Kiyozumi, Susumu Hijioka, Nobumasa Mizuno, Takeshi Terashima, Masaki Mizumoto, Yuzo Kodama, Masako Torishima, Takahisa Kawaguchi, Reiko Ashida, Masayuki Kitano, Keishi Hanada, Masayuki Furukawa, Ken Kawabe. Familial pancreatic cancer: Concept, management and issues. World Journal of Gastroenterology 2017;23(6):935-48.
  2. Hiroyuki Matsubayashi, Masashi Niwakawa, Katsuhiko Uesaka, Keiko Sasaki, Yoshimi Kiyozumi, Hirotoshi Ishiwatari, Kinichi Hotta, Kenichiro Imai, Sayo Ito, Kohei Takizawa, Masaki Tanaka, Noboru Kawata, Naomi Kakushima, and Hiroyuki Ono. Renal Cell Carcinoma and Pancreatic Neuroendocrine Tumor: A Coincidence? or Instance of Von Hippel-Lindau disease? Intern Med, 2017;56(17):2281-2284.
  3. 松林宏行, 福冨晃, 上坂克彦, 石渡裕俊, 松井徹, 藤江慎也, 佐藤純也, 浄住佳美, 堀内泰江, 小野裕之. 「家族性膵癌の治療」 胆と膵 2017;38(8):733-739.
  4. 松林宏行, 浄住佳美. 「家族性膵癌」Medical Practice 2017;34(7):1165-7.

ゲノム医療推進部

ゲノム医療推進部