Study on quality, usefulness and ELSI of genetic testing including NGS analysis.

• Project/Area Number: 15K08646
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Laboratory medicine
• Research Institution: Kyoto University
• Principal Investigator: KOSUGI SHINJI 京都大学, 医学研究科, 教授 (50252432)
• Co-Investigator(Renkei-kenkyūsha): KOSAKI Kenjiro 慶應義塾大学, 医学部, 教授 (30234743) ; SAKURAI Akihiro 札幌医科大学, 医学部, 教授 (70262706) ; SAKAI Yoshiharu 京都大学, 医学研究科, 教授 (60273455) ; SEKINE Akihiro 千葉大学, 医学系研究院, 教授 (30425631) ; TOI Masazazu 京都大学, 医学研究科, 教授 (10207516)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Project Status: Completed (Fiscal Year 2017)
• Budget Amount: ¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000); Fiscal Year 2017: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000); Fiscal Year 2016: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000); Fiscal Year 2015: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
• Keywords: 遺伝子検査学

Outline of Final Research Achievements

About 200 cases with cancer clinical sequence were experienced. Data and experiences were accumulated when secondary findings recommended to disclose by ACMG(American College of Medical Genetics and Genomics) were identified. Domestic and world-wide conditions of DTC(Direct-to-Consumer) genetic testing were investigated. Clinical validity and utility of genetic testings of classical monogenic hereditary diseases such as Lynch syndrome, Familial adenomatous polyposis, Multiple Endocrine Neoplasia type 1 and 2, and Hereditary Breast Ovarian Cancer, were examined precisely, and data of these were accumulated.

Research Products

• [Journal Article] Clinical significance of an elevated ankle-brachial index differs depending on the amount of appendicular muscle mass: the J-SHIPP and Nagahama studies. (2018)
  • Author(s): Tabara Y. Igase M. Setoh K. Kawaguchi T. Okada Y. Ohara M. Takahashi Y. Kosugi S. Ohyagi Y. Miki T. Nakayama T. Kohara K. Matsuda F. J-SHIPP and Nagahama study groups.
  • Journal Title: Hypertens Res. Volume: in press Issue: 5 Pages: 354-362
  • DOI: 10.1038/s41440-018-0020-x
  • Peer Reviewed
• [Journal Article] Association of retinal vessel calibers and longitudinal changes in arterial stiffness: the Nagahama study. (2018)
  • Author(s): Kawashima-Kumagai K. Tabara Y. Yamashiro K. Setoh K. Yoshikawa M. Kawaguchi T. Miyake M. Nakanishi H. Muraoka Y. Takahashi Y. Kosugi S. Nakayama T. Yoshimura N. Matsuda F. Tsujikawa A. Nagahama Study group.
  • Journal Title: J Hypertens. Volume: 36 Issue: 3 Pages: 587-593
  • DOI: 10.1097/hjh.0000000000001602
  • Peer Reviewed
• [Journal Article] Factors affecting longitudinal changes in cardio-ankle vascular index in a large general population: the Nagahama study. (2018)
  • Author(s): Tabara Y. Setoh K. Kawaguchi T. Takahashi Y. Kosugi S. Nakayama T. Matsuda F and the Nagahama Study Group.
  • Journal Title: J Hypertens. Volume: 36 Issue: 5 Pages: 1147-1153
  • DOI: 10.1097/hjh.0000000000001672
  • Peer Reviewed
• [Journal Article] Seasonal variation in nocturnal home blood pressure fall: the Nagahama study. (2018)
  • Author(s): Tabara Y. Matsumoto T. Murase K. Nagashima S. Hirai T. Kosugi S. Nakayama T. Wakamura T. Chin K. Matsuda F. the Nagahama study group.
  • Journal Title: Hypertens Res. Volume: 41 Issue: 3 Pages: 198-208
  • DOI: 10.1038/s41440-017-0003-3
  • Peer Reviewed / Open Access
• [Journal Article] The causal effects of alcohol on lipoprotein subfraction and triglyceride levels using a Mendelian randomization analysis: The Nagahama study. (2017)
  • Author(s): Tabara Y, Arai H, Hirao Y, Takahashi Y, Setoh K, Kawaguchi T, Kosugi S, Ito Y, Nakayama T, Matsuda F; Nagahama study group.
  • Journal Title: Atherosclerosis. Volume: 257 Pages: 22-28
  • DOI: 10.1016/j.atherosclerosis.2016.12.008
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Different inverse association of large high-density lipoprotein subclasses with exacerbation of insulin resistance and incidence of type 2 diabetes: The Nagahama study. (2017)
  • Author(s): Tabara Y, Arai H, Hirao Y, Takahashi Y, Setoh K, Kawaguchi T, Kosugi S, Ito Y, Nakayama T, Matsuda F; Nagahama study group.
  • Journal Title: Diabetes Res Clin Pract. Volume: 127 Pages: 123-131
  • DOI: 10.1016/j.diabres.2017.03.018
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Combined association of clinical and lifestyle factors with non-restorative sleep: The Nagahama Study. (2017)
  • Author(s): Matsumoto T, Tabara Y, Murase K, Takahashi Y, Setoh K, Kawaguchi T, Muro S, Kadotani H, Kosugi S, Sekine A, Yamada R, Nakayama T, Mishima M, Matsuda F, Chin K.
  • Journal Title: PLoS One. Volume: 12 Issue: 3 Pages: e0171849-e0171849
  • DOI: 10.1371/journal.pone.0171849
  • NAID: 120006539727
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Risks and Cough-Aggravating Factors in Prolonged Cough: Epidemiological Observations from the Nagahama Cohort Study. (2017)
  • Author(s): Matsumoto H, Izuhara Y, Niimi A, Tabara Y, Nagasaki T, Kanemitsu Y, Murase K, Oguma T, Ito I, Muro S, Sekine A, Matsuda F, Kosugi S, Nakayama T, Chin K, Mishima M; Nagahama Study Collaboration Group..
  • Journal Title: Ann Am Thorac Soc. Volume: Feb 10. Issue: 5 Pages: 698-705
  • DOI: 10.1513/annalsats.201608-616bc
  • Peer Reviewed / Open Access
• [Journal Article] A burden of rare variants in BMPR2 and KCNK3 contributes to a risk of familial pulmonary arterial hypertension. (2017)
  • Author(s): Higasa K, Ogawa A, Terao C, Shimizu M, Kosugi S, Yamada R, Date H, Matsubara H, Matsuda F.
  • Journal Title: BMC Pulm Med. Volume: 17 Issue: 1 Pages: 57-57
  • DOI: 10.1186/s12890-017-0400-z
  • NAID: 120006305759
  • Peer Reviewed / Open Access
• [Journal Article] Prognostic Significance of Spot Urine Na/K for Longitudinal Changes in Blood Pressure and Renal Function: The Nagahama Study. (2017)
  • Author(s): Tabara Y. Takahashi Y. Setoh K. Kawaguchi T. Kosugi S. Nakayama T. Matsuda F; Nagahama Study Group.
  • Journal Title: Am J Hypertens. Volume: 30 Issue: 9 Pages: 899-906
  • DOI: 10.1093/ajh/hpx075
  • Peer Reviewed
• [Journal Article] Clinical sequencing using a next-generation sequencing-based multiplex gene assay in patients with advanced solid tumors (2017)
  • Author(s): Kou Tadayuki、Kanai Masashi、Yamamoto Yoshihiro、Kamada Mayumi、Nakatsui Masahiko、Sakuma Tomohiro、Mochizuki Hiroaki、Hiroshima Akinori、Sugiyama Aiko、Nakamura Eijiro、Miyake Hidehiko、Minamiguchi Sachiko、Takaori Kyoichi、Matsumoto Shigemi、Haga Hironori、Seno Hiroshi、Kosugi Shinji、Okuno Yasushi、Muto Manabu
  • Journal Title: Cancer Science Volume: 108 Issue: 7 Pages: 1440-1446
  • DOI: 10.1111/cas.13265
  • NAID: 120006333897
  • Peer Reviewed
• [Journal Article] Cross-Sectional Epidemiological Analysis of the Nagahama Study for Correlates of Overactive Bladder: Genetic and Environmental Considerations. (2017)
  • Author(s): Funada S. Kawaguchi T. Terada N. Negoro H. Tabara Y. Kosugi S. Yamada R. Nakayama T. Akamatsu S. Yoshimura K. Matsuda F. Ogawa O. Nagahama Study Group.
  • Journal Title: J Urol. Volume: in press Issue: 3 Pages: 774-778
  • DOI: 10.1016/j.juro.2017.09.146
  • Peer Reviewed
• [Journal Article] Relationship Among Chlamydia and Mycoplasma Pneumoniae Seropositivity, IKZF1 Genotype and Chronic Obstructive Pulmonary Disease in A General Japanese Population: The Nagahama Study. (2016)
  • Author(s): Muro S, Tabara Y, Matsumoto H, Setoh K, Kawaguchi T, Takahashi M, Ito I, Ito Y, Murase K, Terao C, Kosugi S, Yamada R, Sekine A, Nakayama T, Chin K, Mishima M, Matsuda F; Nagahama Study Group.
  • Journal Title: Medicine (Baltimore). Volume: 95(15) Issue: 15 Pages: e3371-e3371
  • DOI: 10.1097/md.0000000000003371
  • Peer Reviewed / Open Access
• [Journal Article] Effects of atorvastatin on renal function in patients with dyslipidemia and chronic kidney disease: assessment of clinical usefulness in CKD patients with atorvastatin (ASUCA) trial. (2016)
  • Author(s): Kimura G, Kasahara M, Ueshima K, Tanaka S, Yasuno S, Fujimoto A, Sato T, Imamoto M, Kosugi S, Nakao K.
  • Journal Title: Clin Exp Nephrol. Volume: JUｌ Issue: 3 Pages: 8-8
  • DOI: 10.1007/s10157-016-1304-6
  • Peer Reviewed
• [Journal Article] Mouth Breathing, another Risk Factor for Asthma: the Nagahama Study. (2016)
  • Author(s): Yumi I, Matsumoto H, Nagasaki T, Kanemitsu Y, Murase K, Ito I, Oguma T, Muro S, Asai K, Tabara Y, Takahashi K, Bessho K, Sekine A, Kosugi S, Yamada R, Nakayama T, Matsuda F, Niimi A, Chin K, Mishima M; Nagahama Study Group.
  • Journal Title: Allergy Volume: 未定 Issue: 7 Pages: 1031-1036
  • DOI: 10.1111/all.12885
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Synergistic association of elevated serum free fatty acid and glucose levels with large arterial stiffness in a general population: The Nagahama Study (2016)
  • Author(s): Yasuharu Tabara, Yoshimitsu Takahashi, Kazuya Setoh, Takahisa Kawaguchi, Norimoto Gotoh, Chikashi Terao, Ryo Yamada, Shinji Kosugi, Akihiro Sekine, Takeo Nakayama, Fumihiko Matsuda, on behalf of the Nagahama Study group.
  • Journal Title: M E T A B O L I S M C L I N I C A L A N D E X P E R I M E N T A L Volume: 65 Issue: 1 Pages: 66-72
  • DOI: 10.1016/j.metabol.2015.10.011
  • NAID: 120005698009
  • Peer Reviewed / Open Access
• [Journal Article] Central blood pressure relates more strongly to retinal arteriolar narrowing than brachial blood pressure: the Nagahama Study. (2015)
  • Author(s): Kumagai K1, Tabara Y, Yamashiro K, Miyake M, Akagi-Kurashige Y, Oishi M, Yoshikawa M, Kimura Y, Tsujikawa A, Takahashi Y, Setoh K, Kawaguchi T, Terao C, Yamada R, Kosugi S, Sekine A, Nakayama T, Matsuda F, Yoshimura N; Nagahama Study group
  • Journal Title: J Hypertens Volume: 33 Issue: 2 Pages: 323-9
  • DOI: 10.1097/hjh.0000000000000391
  • Peer Reviewed / Open Access
• [Journal Article] Significant association of periodontal disease with anti-citrullinated peptide antibody in a Japanese healthy population-the Nagahama study. (2015)
  • Author(s): C Terao, K Asai; M Hashimoto; T Yamazaki; K Ohmura; A Yamaguchi; K Takahashi; N Takei; T Ishii; T Kawaguchi; Y Tabara; M Takahashi; T Nakayama; S Kosugi; A Sekine; T Fujii; R Yamada; T Mimori; F Matsuda; K Bessho, Nagahama Study Group.
  • Journal Title: Journal of Autoimmunity Volume: 59 Pages: 85-90
  • DOI: 10.1016/j.jaut.2015.03.002
  • NAID: 120005601013
  • Peer Reviewed / Open Access
• [Journal Article] Knee Pain and Low Back Pain Additively Disturb Sleep in the General Population: A Cross-Sectional Analysis of the Nagahama Study. (2015)
  • Author(s): Murase K, Tabara Y, Ito H, Kobayashi M, Takahashi Y, Setoh K, Kawaguchi T, Muro S, Kadotani H, Kosugi S, Sekine A, Yamada R, Nakayama T, Mishima M, Matsuda S, Matsuda F, Chin K.
  • Journal Title: PLoS One Volume: 10 Issue: 10 Pages: e0140058-e0140058
  • DOI: 10.1371/journal.pone.0140058
  • NAID: 120005756275
  • Peer Reviewed / Open Access
• [Journal Article] Descriptive epidemiology of spot urine sodium-to-potassium ratio clarified close relationship with blood pressure level: the Nagahama study. (2015)
  • Author(s): Tabara Y, Takahashi Y, Kumagai K, Setoh K, Kawaguchi T, Takahashi M, Muraoka Y, Tsujikawa A, Gotoh N, Terao C, Yamada R, Kosugi S, Sekine A, Yoshimura N, Nakayama T, Matsuda F; Nagahama study group.
  • Journal Title: J Hypertens Volume: 33 Issue: 12 Pages: 2407-13
  • DOI: 10.1097/hjh.0000000000000734
  • NAID: 120005712944
  • Peer Reviewed / Open Access
• [Journal Article] Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population. (2015)
  • Author(s): Taniguchi M, Matsuo H, Shimizu S, Nakayama A, Suzuki K, Hamajima N, Shinomiya N, Nishio S, Kosugi S, Usami S, Ito J, Kitajiri S.
  • Journal Title: J Hum Genet Volume: 60 Pages: 613-7
  • NAID: 120005697967
  • Peer Reviewed
• [Journal Article] Three missense variants of metabolic syndrome-related genes are associated with alpha-1 antitrypsin levels. (2015)
  • Author(s): 146.Three missense variants of metabolic syndrome-related genes are associated with alpha-1 antitrypsin levels. Setoh K, Terao C, Muro S, Kawaguchi T, Tabara Y, Takahashi M, Nakayama T, Kosugi S, Sekine A, Yamada R, Mishima M, Matsuda F.
  • Journal Title: Nat Commun Volume: 6 Issue: 1 Pages: 7754-7754
  • DOI: 10.1038/ncomms8754
  • NAID: 120005743662
  • Peer Reviewed / Open Access
• [Journal Article] 7C.07: ASSOCIATION OF SERUM FREE FATTY ACID LEVEL WITH REDUCED REFLECTION PRESSURE WAVE MAGNITUDE AND CENTRAL BLOOD PRESSURE: THE NAGAHAMA STUDY. (2015)
  • Author(s): Tabara Y, Takahashi Y, Kawaguchi T, Setoh K, Terao C, Yamada R, Kosugi S, Sekine A, Nakayama T, Matsuda F.
  • Journal Title: J Hypertens Volume: 33 Suppl Issue: Supplement 1 Pages: e98-e98
  • DOI: 10.1097/01.hjh.0000467614.38730.87
  • Peer Reviewed / Open Access
• [Journal Article] ANKH Polymorphisms and Clicking of the Temporomandibular Joint in Dental Residents. (2015)
  • Author(s): Huang B, Takahashi K, Goto T, Kiso H, Sugai M, Shimizu A, Kosugi S, Bessho K.
  • Journal Title: J Maxillofac Oral Surg Volume: 14 Issue: 2 Pages: 247-51
  • DOI: 10.1007/s12663-014-0622-z
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations. (2015)
  • Author(s): Arai Y, Maeda A, Hirami Y, Ishigami C, Kosugi S, Mandai M, Kurimoto Y, Takahashi M.
  • Journal Title: J Ophthalmol Volume: 2015 Pages: 819760-819760
  • DOI: 10.1155/2015/819760
  • NAID: 120005745647
  • Peer Reviewed
• [Journal Article] An association between anti-nuclear antibodies and HLA class II locus and heterogeneous characteristics of staining patterns: The Nagahama Study. (2014)
  • Author(s): Terao C, Ohmura K, Yamada R, Kawaguchi T, Shimizu M, Tabara Y, Takahashi M, Setoh K, Nakayama T, Kosugi S, Sekine A, Matsuda F, Tsuneyo Mimori T on behalf of the Nagahama Study Group.
  • Journal Title: Arthritis Rheumatol. Volume: 66 Issue: 3_suppl Pages: 3395-403
  • DOI: 10.1177/0022034514559127
  • Peer Reviewed / Open Access
• [Presentation] がん遺伝子パネル検査と二次的所見としての遺伝性腫瘍 (2018)
  • Author(s): 小杉眞司
  • Organizer: 川崎医科大学附属病院 がんセンター 第22回 Cancer Seminar
  • Invited
• [Presentation] 癌遺伝子パネル検査と二次的所見としての遺伝性腫瘍 (2018)
  • Author(s): 小杉眞司
  • Organizer: ゲノム医療実装プロジェクト平成29年度研修会
  • Invited
• [Presentation] 内分泌腫瘍を伴う他の遺伝性腫瘍 (2018)
  • Author(s): 小杉眞司
  • Organizer: 第20回家族性腫瘍セミナー（後期）
  • Invited
• [Presentation] 遺伝子解析に伴う倫理的課題 (2017)
  • Author(s): 小杉眞司
  • Organizer: 倫理委員会教育セミナー。岩手医科大学
  • Invited
• [Presentation] 人を対象とする医学系研究に関する倫理指針 (2017)
  • Author(s): 小杉眞司
  • Organizer: 第4章第10に定める教育研修。公益財団法人田附興風会医学研究所北野病院
  • Invited
• [Presentation] 「遺伝子検査」について (2017)
  • Author(s): 小杉眞司
  • Organizer: 第90回日本整形外科学会学術総会
  • Invited
• [Presentation] 遺伝子検査について (2017)
  • Author(s): 小杉眞司
  • Organizer: 第41回頭頸部癌学会
  • Invited
• [Presentation] 遺伝子診療の現況―臨床現場への還元ー (2017)
  • Author(s): 小杉眞司
  • Organizer: 第21回日本臨床化学会 関東支部総会
  • Invited
• [Presentation] NGS時代の倫理課題 (2017)
  • Author(s): 小杉眞司
  • Organizer: 第41回日本遺伝カウンセリング学会学術集会
  • Invited
• [Presentation] 次世代シーケンサ解析に伴う偶発的所見・二次的所見について (2017)
  • Author(s): 小杉眞司
  • Organizer: 第24回日本遺伝子診療学会大会
  • Invited
• [Presentation] 遺伝情報の取扱について (2017)
  • Author(s): 小杉眞司
  • Organizer: 北野病院セミナー
  • Invited
• [Presentation] 内分泌腫瘍を伴う他の遺伝性腫瘍 (2017)
  • Author(s): 小杉眞司
  • Organizer: 第20回家族性腫瘍セミナー
  • Invited
• [Presentation] これからの医療の基盤としての遺伝医療 (2017)
  • Author(s): 小杉眞司
  • Organizer: 神戸市立医療センター病院セミナー
  • Invited
• [Presentation] 医療現場でのゲノム情報の適切な開示のための体制整備について (2017)
  • Author(s): 小杉眞司
  • Organizer: 第76回日本癌学会学術総会
  • Invited
• [Presentation] ゲノム医療時代に備えた遺伝カウンセラーの育成・教育 (2017)
  • Author(s): 小杉眞司
  • Organizer: 日本人類遺伝学会62回大会
  • Invited
• [Presentation] がんゲノム医療に必要な体制と人材 (2017)
  • Author(s): 小杉眞司
  • Organizer: 文部科学省「がん専門医療人材（がんプロフェッショナル）」養成プラン e-learning収録
  • Invited
• [Presentation] 一般臨床医における遺伝医療との関与の実態および意向：京都府医師会会員を対象とした質問票調査 (2017)
  • Author(s): 稲葉慧、高嶺恵理子、松川愛未、米井歩、小杉眞司
  • Organizer: 第41回日本遺伝カウンセリング学会学術集会
• [Presentation] 産婦人科と遺伝子診療部間の院内連携における病棟看護師・助産師からのニーズ ～認定遺伝カウンセラーに求められる役割の検討～ (2017)
  • Author(s): 米井歩、三宅秀彦、本田明夏、西尾瞳、村上裕美、鳥嶋雅子、稲葉慧、松川愛未、高嶺恵理子、小杉眞司
  • Organizer: 第41回日本遺伝カウンセリング学会学術集会
• [Presentation] 遺伝カウンセリング初回来談時、同伴者の有無と心理社会的背景の関係 (2017)
  • Author(s): 松川愛未、鳥嶋雅子、佐藤智佳、本田明夏、三宅秀彦、稲葉慧、高嶺恵理子、米井歩、小名徹、佐藤優、田口育、松浦香里、和田敬仁、小杉眞司
  • Organizer: 第41回日本遺伝カウンセリング学会学術集会
• [Presentation] 一般地域住民の遺伝リテラシーと家族の遺伝情報がもたらす不安感についての横断研究： ながはまスタディ (2017)
  • Author(s): 高嶺恵理子、稲葉慧、松川愛未、米井歩、瀬藤和也、川口喬久、高橋由光、田原康玄、和田敬仁、中山健夫、松田文彦、小杉眞司
  • Organizer: 第41回日本遺伝カウンセリング学会学術集会
• [Presentation] 遺伝性腫瘍の遺伝子検査に関わるゲノミックカウンセリング (2017)
  • Author(s): 覚道真理子、佐藤智佳、鹿嶋見奈、岡田千穂、澤井英明、小杉眞司、玉置知子
  • Organizer: 第41回日本遺伝カウンセリング学会学術集会
• [Presentation] 一般市民、患者や患者家族の遺伝医療に関する専門用語の理解と医療従事者が用いる専門用語が与える影響についての文献調査 (2017)
  • Author(s): 松浦香里、田口育、小名徹、佐藤優、三宅秀彦、和田敬仁、小杉眞司
  • Organizer: 第41回日本遺伝カウンセリング学会学術集会
• [Presentation] ゲノム編集技術に対する専門家および一般市民の意識と課題における文献レビュー (2017)
  • Author(s): 田口育、小名徹、佐藤優、松浦香里、田口育、三宅秀彦、和田敬仁、小杉眞司
  • Organizer: 第41回日本遺伝カウンセリング学会学術集会
• [Presentation] An exploratory study among hereditary breast and ovarian cancer patients: the relationship between clients’ psychosocial situations and their solo/group visit to genetic counseling. (2017)
  • Author(s): Manami Matsukawa, Masako Torishima, Chika Satou, Sayaka Honda, Hidehiko Miyake, Shinji Kosugi
  • Organizer: 50th Annual meeting of Europe Society of Human Genetics.
  • Int'l Joint Research
• [Presentation] 京都大学医学部附属病院における乳がん・卵巣がんに関する遺伝カウンセリング状況 (2017)
  • Author(s): 本田 明夏、村上 裕美、鳥嶋 雅子、松川 愛未、山田 崇弘、山田 重人、小杉 眞司
  • Organizer: 日本人類遺伝学会 第62回大会
• [Presentation] BRCA1/2遺伝子再構成は中等度以上のリスクを有する日本人遺伝性乳がん卵巣がん症例では稀である。 (2017)
  • Author(s): 菅野 康吉、高井 響子、清水 千佳子、田辺 記子、吉田 輝彦、青木 大輔、増田 健太、小崎 健次郎、田中屋 宏爾、矢形 寛、青木 美紀子、山内 英子、大住 省三、金子 景香、小杉 眞司、野水 整、赤間 孝典、織田 信弥、黄瀬 恵美子、古庄 知己
  • Organizer: 日本人類遺伝学会 第62回大会
• [Presentation] 臨床遺伝専門医の育成と全国普及を図る取り組み NGSDプロジェクトの概要、成果、今後の課題 (2017)
  • Author(s): 水上 都、櫻井 晃洋、松下 一之、齋藤 加代子、小杉 眞司、難波 栄二、古庄 知己、福嶋 義光
  • Organizer: 日本人類遺伝学会 第62回大会
• [Presentation] もやもや病感受性遺伝子RNF213と脳血管狭窄・血圧の関連：ながはまスタディ (2017)
  • Author(s): 西尾 瞳、永田 学、楊 涛、森本 貴昭、峰晴 陽平、吉田 和道、高木 康志、松川 愛未、瀬藤 和也、川口 喬久、田原 康玄、宮本 享、松田 文彦、小杉 眞司
  • Organizer: 日本人類遺伝学会 第62回大会
• [Presentation] 遺伝性腫瘍の遺伝学的パネル検査の経験 (2017)
  • Author(s): 覚道 真理子、佐藤 智佳、鹿嶋 見奈、岡田 千穂、澤井 英明、小杉 眞司、玉置 知子
  • Organizer: 日本人類遺伝学会 第62回大会
• [Presentation] 遺伝性腫瘍パネル検査の遺伝カウンセリングでの結果説明手法の検討 (2017)
  • Author(s): 佐藤 智佳、覚道 真理子、四本 由郁、岡田 英孝、小杉 眞司、玉置 知子
  • Organizer: 日本人類遺伝学会 第62回大会
• [Presentation] Can learning family health history cause anxiety? (2016)
  • Author(s): Eriko Takamine, Yumie Hiraoka, Masako Torishima, Akira Inaba, Manami Matsukawa, Ayumi Yonei, Takahito Wada, Yasuharu Tabara, Fumihiko Matsuda, Shinji Kosugi
  • Organizer: Annual Meeting of American Society of Human Genetics
  • Place of Presentation: Vancouver
  • Year and Date: 2016-10-18
  • Int'l Joint Research
• [Presentation] Views of patients and their parents regarding the incidental or secondary findings obtained from whole exome and genome sequencing: a literature review. (2016)
  • Author(s): Akira Inaba, Eriko Takamine, Manami Matsukawa, Ayumi Yonei, Shinji Kosugi.
  • Organizer: Annual Meeting of American Society of Human Genetics
  • Place of Presentation: Vancouver
  • Year and Date: 2016-10-18
  • Int'l Joint Research
• [Presentation] The information and psychosocial support provided during decision-making by pregnant women who are incidentally diagnosed with fetal abnormalities in Japan; An online survey. (2016)
  • Author(s): Sayaka Honda, Hidehiko Miyake, Shinji Kosug.
  • Organizer: 20th International Conference on Prenatal Diagnosis and Therapy.
  • Place of Presentation: Berlin
  • Year and Date: 2016-07-10
  • Int'l Joint Research
• [Presentation] Cross-sectional study to identify Japanese HBOC kindred at the maximum risk categories suitable for expedited genetic screening. (2016)
  • Author(s): Kokichi Sugano, Chikako Shimizu, Teruhiko Yoshida, Daisuke Aoki, Kenta Masuda, Kenjiro Kosaki, Kouji Tanakaya, Hiroshi Yagata, Mikiko Aoki, Shozo Ohsumi, Keika Kaneko, Shinji Kosugi, Tadashi Nomizu, Shinya Oda, Tomoki Koshou.
  • Organizer: The 6th Internationa Symposium of Hereditary Breast and Ovarian Cancer.
  • Place of Presentation: Montreal
  • Year and Date: 2016-05-10
  • Int'l Joint Research
• [Presentation] The Current Landscape of the After-Sales Services of Direct-To-Consumer (DTC) Genetic Testing in Japan. (2016)
  • Author(s): Eriko Takamine, Hidehiko Miyake, Manami Matsukawa, Akira Inaba, Ayumi Yonei, Yumie Hiraoka, Sayaka Honda, Hitomi Nishio, Takahito Wada, Shinji Kosugi.
  • Organizer: The 13th Internationa Congress of Human Genetics.
  • Place of Presentation: 国立京都国際会館
  • Year and Date: 2016-04-03
  • Int'l Joint Research
• [Presentation] Developing a MANGA cartoon medium that can promote Family Health History (2016)
  • Author(s): Yumie Hiraoka, Masako Torishima, Nana Akiyama, Takahito Wada, Shinji Kosugi.
  • Organizer: The 13th Internationa Congress of Human Genetics.
  • Place of Presentation: 国立京都国際会館
  • Year and Date: 2016-04-03
  • Int'l Joint Research
• [Presentation] Views of Patients and Their Parents Regarding the Incidental or Secondary Findings Obtained from Whole Exome and Genome Sequencing: a Literature Review. (2016)
  • Author(s): Akira Inaba, Hitomi Nishio, Yumie Hiraoka, Sayaka Honda, Eriko Takamine, Manami Matsukawa, Ayumi Yonei,Shinji Kosugi.
  • Organizer: The 13th Internationa Congress of Human Genetics.
  • Place of Presentation: 国立京都国際会館
  • Year and Date: 2016-04-03
  • Int'l Joint Research
• [Presentation] Characteristics of the Genetic Counseling in Kyoto University Hospital to Figure out the Genetic Counseling Needs in Japan. (2016)
  • Author(s): Manami Matsukawa, Hitomi Nishio, Yumie Hiraoka, Sayaka Honda, Akira Inaba, Eriko Takamine, Ayumi Yonei, Masako Torishima, Hiromi Murakami, Shin-ichiro Kitajiri, Takahito Wada, Hidehiko Miyake, Shigehito Yamada, Toshio Heike, Shinji Kosugi.
  • Organizer: The 13th Internationa Congress of Human Genetics.
  • Place of Presentation: 国立京都国際会館
  • Year and Date: 2016-04-03
  • Int'l Joint Research
• [Presentation] Provided information and psychosocial support for decision-making process of pregnant women with incidental diagnosis of fetal abnormalities in Japan -Online based survey. (2016)
  • Author(s): Sayaka Honda, Hidehiko Miyake, Hitomi Nishio, YumieHiraoka, Shinji Kosugi.
  • Organizer: The 13th Internationa Congress of Human Genetics.
  • Place of Presentation: 国立京都国際会館
  • Year and Date: 2016-04-03
  • Int'l Joint Research
• [Presentation] Evaluation of the management of incidental findings in next-generation sequencing: A questionnaire survey involving genetics professionals. (2016)
  • Author(s): Mio Tsuchiya, Shinji Kosugi.
  • Organizer: The 13th Internationa Congress of Human Genetics.
  • Place of Presentation: 国立京都国際会館
  • Year and Date: 2016-04-03
  • Int'l Joint Research
• [Presentation] 遺伝カウンセリングにおける一般診療と専門診療の機能区分の設定 (2015)
  • Author(s): 三宅秀彦、村上裕美、鳥嶋雅子、稲葉慧、高嶺恵理子、松川愛未、米井歩、浦尾充子、山田重人、小杉眞司
  • Organizer: 日本人類遺伝学会第60回大会
  • Place of Presentation: 東京都、京王プラザホテル
  • Year and Date: 2015-10-14
• [Presentation] 京都大学医学部附属病院遺伝子診療部における遺伝カウンセリングの概要と領域ごとの特徴と今後の課題 (2015)
  • Author(s): 松川愛未、西尾瞳、本田明夏、平岡弓枝、稲葉慧、高嶺恵理子、米井歩、鳥嶋雅子、村上裕美、北尻真一郎、和田敬仁、三宅秀彦、山田重人、平家俊男、小杉眞司
  • Organizer: 日本人類遺伝学会第60回大会
  • Place of Presentation: 東京都、京王プラザホテル
  • Year and Date: 2015-10-14
• [Presentation] 乳がんを主訴に来談したクライアントの意思決定に関する研究 (2015)
  • Author(s): 本田明夏、三宅秀彦、村上裕美、西尾瞳、平岡弓枝、小杉眞司
  • Organizer: 日本人類遺伝学会第60回大会
  • Place of Presentation: 東京都、京王プラザホテル
  • Year and Date: 2015-10-14
• [Presentation] 365.An educational program on human genetics in Japan, KYOTO MODEL: By developing a MANGA cartoon media that can enhance importance of awareness of family health history. (2015)
  • Author(s): Y. Hiraoka; M. Torishima; N. Akiyama; T. Wada; S. Kosugi.
  • Organizer: American Society of Human Genetics Annual Meeting 2015
  • Place of Presentation: Baltimore, USA
  • Year and Date: 2015-10-07
  • Int'l Joint Research
• [Presentation] 脳血管障害の遺伝学的検査に関する文献調査 (2015)
  • Author(s): 西尾瞳、平岡弓枝、本田明夏、三宅秀彦、小杉眞司
  • Organizer: 第39回日本遺伝カウンセリング学会学術集会
  • Place of Presentation: 千葉市、三井ガーデンホテル千葉
  • Year and Date: 2015-06-25
• [Presentation] 小学生に対するヒト遺伝教室実践の評価 (2015)
  • Author(s): 鳥嶋雅子、秋山奈々、和田敬仁、平岡弓枝、西尾瞳、本田明夏、小杉眞司
  • Organizer: 第39回日本遺伝カウンセリング学会学術集会
  • Place of Presentation: 千葉市、三井ガーデンホテル千葉
  • Year and Date: 2015-06-25
• [Presentation] 小学校・中学科校の学習指導要領・教科書におけるヒト遺伝関連項目の取り扱いに関する調査 (2015)
  • Author(s): 秋山奈々、和田敬仁、鳥嶋雅子、小杉眞司
  • Organizer: 第39回日本遺伝カウンセリング学会学術集会
  • Place of Presentation: 千葉市、三井ガーデンホテル千葉
  • Year and Date: 2015-06-25
• [Presentation] 一般雑誌における乳がん検診と遺伝性乳がんの情報発信の関連 (2015)
  • Author(s): 福江美咲、三宅秀彦、秋山奈々、高井響子、小杉眞司
  • Organizer: 第39回日本遺伝カウンセリング学会学術集会
  • Place of Presentation: 千葉市、三井ガーデンホテル千葉
  • Year and Date: 2015-06-25
• [Presentation] 妹を救命した遺伝性びまん性胃癌で死亡した20歳代男性―40歳代までに胃癌を発症した11名を含むCDH1陽性家系 (2015)
  • Author(s): 鳥嶋雅子、堀松高博、平岡弓枝、秋山奈々、山田英孝、椙村春彦、坂井義治、羽賀博典、宮本心一、武藤学、小杉眞司
  • Organizer: 第39回日本遺伝カウンセリング学会学術集会
  • Place of Presentation: 千葉市、三井ガーデンホテル千葉
  • Year and Date: 2015-06-25
• [Presentation] 家族性大腸腺腫症患者の遺伝子検査に込めた願い―30年前に家族性大腸腺腫症の診断を受けた発端者と親族への遺伝カウンセリング― (2015)
  • Author(s): 村上裕美、西尾瞳、秋山奈々、中國正祥、菅野康吉、牛尼美年子、吉田輝彦、小杉眞司
  • Organizer: 第39回日本遺伝カウンセリング学会学術集会
  • Place of Presentation: 千葉市、三井ガーデンホテル千葉
  • Year and Date: 2015-06-25
• [Presentation] 周産期喪失のケアに関する文献調査 (2015)
  • Author(s): 本田明夏、西尾瞳、平岡弓枝、三宅秀彦、小杉眞司。
  • Organizer: 第39回日本遺伝カウンセリング学会学術集会
  • Place of Presentation: 千葉市、三井ガーデンホテル千葉
  • Year and Date: 2015-06-25
• [Presentation] ヒト遺伝リタラシー向上のための取り組みに関する文献調査 (2015)
  • Author(s): 平岡弓枝、鳥嶋雅子、秋山奈々、和田敬仁、小杉眞司
  • Organizer: 第39回日本遺伝カウンセリング学会学術集会
  • Place of Presentation: 千葉市、三井ガーデンホテル千葉
  • Year and Date: 2015-06-25
• [Presentation] 国内大学病院電子カルテ上の家系情報フォーマットに関する実態調査 (2015)
  • Author(s): 高井響子、秋山奈々、福江美咲、三宅秀彦、小杉眞司
  • Organizer: 第39回日本遺伝カウンセリング学会学術集会
  • Place of Presentation: 千葉市、三井ガーデンホテル千葉
  • Year and Date: 2015-06-25
• [Presentation] Kyoto Model of developing a human genetics education program in Japan. (2015)
  • Author(s): N. Akiyama, M. Torishima, T. Wada, S. Kosugi.
  • Organizer: The EUROPEAN HUMAN GENETICS CONFERENCE 2015
  • Place of Presentation: Glasgow, UK
  • Year and Date: 2015-06-06
  • Int'l Joint Research
• [Presentation] Severity score for multiple endocrine neoplasia. (2015)
  • Author(s): A. Sakurai, S. Suzuki, T. Okamoto, T. Imai, S. Kosugi, S. Uchino
  • Organizer: The EUROPEAN HUMAN GENETICS CONFERENCE 2015
  • Place of Presentation: Glasgow, UK
  • Year and Date: 2015-06-06
  • Int'l Joint Research
• [Presentation] 多発性内分泌腫瘍症の診断、リスク評価、治療戦略 (2015)
  • Author(s): 櫻井晃洋、今井常夫、内野眞也、岡本高宏、小杉眞司、鈴木眞一
  • Organizer: 第21回日本家族性腫瘍学会学術集会
  • Place of Presentation: さいたま市、ラフレさいたま
  • Year and Date: 2015-06-05
  • Invited
• [Presentation] CDH1生殖細胞変異を認めた遺伝性びまん性胃癌の2例 (2015)
  • Author(s): 船越太郎、堀松高博、鳥嶋雅子、平岡弓枝、秋山奈々、小杉眞司、羽賀博典、山田英孝、椙村春彦、坂井義治、武藤学
  • Organizer: 第21回日本家族性腫瘍学会学術集会
  • Place of Presentation: さいたま市、ラフレさいたま
  • Year and Date: 2015-06-05
• [Book] 遺伝カウンセリングのためのコミュニケーション論 (2016)
  • Author(s): 小杉眞司
  • Total Pages: 398
  • Publisher: メディカルドゥ