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江口英孝（エグチヒデタカ）

研究テーマ	固形腫瘍や難治性・希少疾患のゲノム科学的解析
研究業績（論文）	Ito T, Yamaguchi T, Kumamoto K, Suzuki O, Chika N, Kawakami S, Nagai T, Igawa T, Fujiyoshi K, Akagi Y, Arai T, Akagi K, Eguchi H, Okazaki Y, Ishida H. Incidence and molecular characteristics of deficient mismatch repair conditions across nine different tumors and identification of germline variants involved in Lynch-like syndrome. Int J Clin Oncol. 2024 Apr 14. doi: 10.1007/s10147-024-02518-y. Online ahead of print. Successful management of acute graft-versus-host disease with ibrutinib during cord blood transplantation for germline DDX41-mutated acute myeloid leukemia. Uchimura A, Yasuda H, Onagi H, Inano T, Shirane S, Ishii M, Azusawa Y, Hamano Y, Eguchi H, Arai M, Ando J, Ando M. Heliyon. 2024 Jan 17;10(2):e24801. doi: 10.1016/j.heliyon.2024.e24801. Sporadic gastric juvenile polyposis with a novel SMAD4 nonsense mutation in a mosaic pattern. Matsuyama S, Fukuda A, Matsumoto A, Eguchi H, Ueo T, Ohana M, Seno H. Clin J Gastroenterol. 2023 Nov 11. doi: 10.1007/s12328-023-01884-w. Online ahead of print. A Case of Lamina Lucida-Type Linear IgA Disease Complicated by Colon Polyposis and Rectal Adenocarcinoma. Akiko Miyazaki, Saori Itoi-Ochi, Mami Hayashi, Asako Ota, Kengo Nagai, Shinya Inoue, Naohiro Tomita, Hidetaka Eguchi, Yasushi Okazaki, Hideyuki Ishida, Takashi Hashimoto. Case Reports in Dermatology 15(1) 126-132, 2023. BRCAness of brain lesions reflects a worse outcome for patients with metastatic breast cancer. Ishizuka Y, Horimoto Y, Eguchi H, Murakami F, Nakai K, Onagi H, Hayashi T, Ishikawa T, Arai M, Watanabe J. Breast Cancer Res Treat. 2023 Sep 20. doi: 10.1007/s10549-023-07115-7. Online ahead of print. PKD1 Mutation Is a Biomarker for Autosomal Dominant Polycystic Kidney Disease Tomoki Kimura, Haruna Kawano, Satoru Muto, Nobuhito Muramoto, Toshiaki Takano, Yan Lu, Hidetaka Eguchi, Hiroo Wada, Yasushi Okazaki, Hisamitsu Ide, Shigeo Horie Biomolecules 13(7) 1020-1020, 2023. Attenuated Expression of SLCO2A1 Caused by DNA Methylation in Pediatric Inflammatory Bowel Disease. Ito N, Kudo T, Eguchi H, Jimbo K, Furuhata A, Okuno T, Takeuchi I, Arai K, Ishige T, Okazaki Y, Shimizu T. Inflamm Bowel Dis. 2023 Jun 16:izad116. doi: 10.1093/ibd/izad116. Online ahead of print. A case of attenuated familial adenomatous polyposis in which genetic testing revealed that the children were asymptomatic gene carriers. Sonoda H, Yamada T, Yamaguchi T, Eguchi H, Okazaki Y, Yoshida H, Ishida H. Jpn J Clin Oncol. 2023 Jun 15:hyad065. doi: 10.1093/jjco/hyad065. Online ahead of print. Resveratrol exhibits diverse anti-cancer activities through epigenetic regulation of E-cadherin and p21 in triple-negative breast cancer cells.Sakamoto T, Tanimoto K, Eguchi H, Sasaki S, Tsuboi K, Hayashi SI, Ichihara S. Breast Cancer. 2023 May 11. doi: 10.1007/s12282-023-01465-2. Online ahead of print. Gastric Juvenile Polyposis with Intramucosal Cancer Diagnosed by Magnifying Endoscopy with Narrow-band Imaging: A Case Report. Utsunomiya H, Akazawa Y, Ueyama H, Iwano T, Yamamoto M, Uchida R, Oki S, Suzuki N, Abe D, Ikeda A, Takeda T, Ueda K, Hojo M, Yube Y, Kaji S, Okano S, Tsuyama S, Eguchi H, Okazaki Y, Arai M, Fukunaga T, Yao T, Nagahara A. Intern Med. 2023 Mar 31. doi: 10.2169/internalmedicine.1612-23. Online ahead of print. Rare germline variants in pancreatic cancer and multiple primary cancers: an autopsy study. Fujitani H, Eguchi H, Kochi Y, Arai T, Muramatsu M, Okazaki Y. Eur J Cancer Prev. 2023 Mar 2. doi: 10.1097/CEJ.0000000000000787. Online ahead of print. The coexistence of TRPV6 variants with other pancreatitis-associated genes affects pediatric-onset pancreatitis. Hirai S, Suzuki M, Sakurai Y, Nakano S, Minowa K, Eguchi H, Okazaki Y, Shimizu T. J Pediatr Gastroenterol Nutr. 2023 Jan 4. doi: 10.1097/MPG.0000000000003700. Online ahead of print. A novel germline SMAD4 variant detected in a Japanese family with juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia. Kananazawa Y, Yamada T, Yamaguchi T, Saito Y, Kakinuma D, Masuda Y, Ando F, Ohashi R, Eguchi H, Okazaki Y, Ishida H, Yoshida H. Jpn J Clin Oncol. 2022 Dec 22:hyac189. doi: 10.1093/jjco/hyac189. Online ahead of print. Involvement of kallikrein-PAR2-proinflammatory pathway in severe trastuzumab-induced cardiotoxicity. Sasaki R, Kurebayashi N, Eguchi H, Horimoto Y, Shiga T, Miyazaki S, Kashiyama T, Akamatsu W, Saito M. Cancer Sci. 2022 Jul 25. doi: 10.1111/cas.15508. Online ahead of print. Biomarker discovery for practice of precision medicine in hypopharyngeal cancer: a theranostic study on response prediction of the key therapeutic agents. Kawata-Shimamura Y, Eguchi H, Kawabata-Iwakawa R, Nakahira M, Okazaki Y, Yoda T, Grénman R, Sugasawa M, Nishiyama M. BMC Cancer. 2022 Jul 16;22(1):779. doi: 10.1186/s12885-022-09853-1. PMID: 35841085 Molecular and clinicopathological analysis of three cases of gastric juvenile polyposis Yamashiro Y, Yanai Y, Takeda T, Hayashi T, Akazawa Y, Yatagai N, Ueyama H, Eguchi H, Nagahara A, Yao T, Saito T JGH Open 202 Promotion Effects of Smoking in Polyp Development in Monozygotic Twins with Atypical Colorectal Polyposis. Yoshida N, Ishikawa H, Eguchi H, Okazaki Y, Hirose R, Inoue K, Dohi O, Itoh Y, Mutoh M, Ishiguro S, Ishida H. Case Reports in Gastroenterology. 2022 June;16:375-381. A COL4A1 variant in a neonate with multiple intracranial hemorrhages and congenital cataracts. Yakabe A, Ikuse T, Ito N, Yamada H, Saito N, Kitamura Y, Iwasaki T, Ikeno M, Suganuma H, Abe S, Miyazaki N, Hisata K, Shoji H, Nakazawa T, Eguchi H, Shimizu T. Hum Genome Var. 2022 Jun 10;9(1):24. doi: 10.1038/s41439-022-00199-5. Recent trends in the morbidity and mortality in patients with familial adenomatous polyposis: a retrospective single institutional study in Japan. Mori Y, Amano K, Chikatani K, Ito T, Suzuki O, Kamae N, Hatano S, Chika N, Yamamoto A, Ishibashi K, Eguchi H, Okazaki Y, Iwama T, Ishida H. Int J Clin Oncol. 2022 Mar 11. doi: 10.1007/s10147-022-02146-4. Online ahead of print. COL17A1 germline variant p.Ser1029Ala and mucosal malignant melanoma: An autopsy study. Tong D, Tanaka M, Eguchi H, Okazaki Y, Muramatsu M, Arai T. Mol Clin Oncol. 2022 Feb;16(2):32. doi: 10.3892/mco.2021.2465. Trigenic ADH5/ALDH2/ADGRV1 mutations in myelodysplasia with Usher syndrome. Kinoshita S, Ando M, Ando J, Ishii M, Furukawa Y, Tomita O, Azusawa Y, Shirane S, Kishita Y, Yatsuka Y, Eguchi H, Okazaki Y, Komatsu N. Heliyon. 2021 Aug 14;7(8):e07804. Identification of Lynch syndrome-associated DNA mismatch repair-deficient bladder cancer in a Japanese hospital-based population. Kagawa M, Kawakami S, Yamamoto A, Suzuki O, Kamae N, Eguchi H, Okazaki Y, Yamamoto G, Akagi K, Tamaru JI, Yamaguchi T, Arai T, Ishida H. Int J Clin Oncol. 2021 Aug;26(8):1524-1532. APC germline variant analysis in the adenomatous polyposis phenotype in Japanese patients. Takao M, Yamaguchi T, Eguchi H, Yamada T, Okazaki Y, Tomita N, Nomizu T, Momma T, Takayama T, Tanakaya K, Akagi K, Ishida H. Int J Clin Oncol. 2021 Sep;26(9):1661-1670. Germline deletion of chromosome 2p16-21 associated with Lynch syndrome. Natsume S, Yamaguchi T, Eguchi H, Okazaki Y, Horiguchi SI, Ishida H. Hum Genome Var. 2021 May 19;8(1):19. doi: 10.1038/s41439-021-00152-y. Comprehensive analysis of DNA mismatch repair-deficient gastric cancer in a Japanese hospital-based population. Ito T, Suzuki O, Kamae N, Tamaru JI, Arai T, Yamaguchi T, Akagi K, Eguchi H, Okazaki Y, Mochiki E, Ishida H. Jpn J Clin Oncol. 2021 May 28;51(6):886-894. doi: 10.1093/jjco/hyab026. Prevalence and clinicopathological/molecular characteristics of mismatch repair protein-deficient tumours among surgically treated patients with prostate cancer in a Japanese hospital-based population. Kagawa M, Kawakami S, Yamamoto A, Suzuki O, Eguchi H, Okazaki Y, Akagi K, Tamaru JI, Arai T, Yamaguchi T, Ishida H. Jpn J Clin Oncol. 2020 Nov 27:hyaa207. doi: 10.1093/jjco/hyaa207. Online ahead of print. Prevalence and Molecular Characterization of Defective DNA Mismatch Repair in Small-bowel Carcinoma in a Japanese Hospital-based Population. Ito T, Ishida H, Suzuki O, Chika N, Amano K, Ishibashi K, Kamae N, Tada Y, Akagi K, Eguchi H, Okazaki Y. J Anus Rectum Colon. 2020;4(4):165-173. Study profile of the Japan Multi-institutional Collaborative Cohort (J-MICC) Study. Takeuchi K, Naito M, Kawai S, Tsukamoto M, Kadomatsu Y, Kubo Y, Okada R, Nagayoshi M, Tamura T, Hishida A, Nakatochi M, Sasakabe T, Hashimoto S, Eguchi H, Momozawa Y, Ikezaki H, Murata M, Furusyo N, Tanaka K, Hara M, Nishida Y, Matsuo K, Ito H, Oze I, Mikami H, Nakamura Y, Kusakabe M, Takezaki T, Ibusuki R, Shimoshikiryo I, Suzuki S, Nishiyama T, Watanabe M, Koyama T, Ozaki E, Watanabe I, Kuriki K, Kita Y, Ueshima H, Matsui K, Arisawa K, Uemura H, Katsuura-Kamano S, Nakamura S, Narimatsu H, Hamajima N, Tanaka H, Wakai K. J Epidemiol. 2020 Sep 19. doi: 10.2188/jea.JE20200147. Online ahead of print. Prevalence and molecular characteristics of DNA mismatch repair deficient endometrial cancer in a Japanese hospital-based population. Yamamoto A, Yamaguchi T, Suzuki O, Ito T, Chika N, Kamae N, Tamaru JI, Nagai T, Seki H, Arai T, Tachikawa T, Akagi K, Eguchi H, Okazaki Y, Ishida H. Jpn J Clin Oncol. 2021 Jan 1;51(1):60-69. doi: 10.1093/jjco/hyaa142. A Model for Predicting DNA Mismatch Repair-deficient Colorectal Cancer. Chikatani K, Chika N, Suzuki O, Sakimoto T, Ishibashi K, Eguchi H, Okazaki Y, Ishida H. Anticancer Res. 2020 Aug;40(8):4379-4385. doi: 10.21873/anticanres.14441. The first case report of polymerase proofreading-associated polyposis in POLD1 variant, c.1433G>A p.S478N, in Japan. Ito T, Nomizu T, Eguchi H, Kamae N, Dechamethakun S, Akama Y, Endo G, Sugano K, Yoshida T, Okazaki Y, Ishida H. Jpn J Clin Oncol. 2020 Sep 5;50(9):1080-1083. doi: 10.1093/jjco/hyaa090. A novel germline BMPR1A variant (c.72_73delGA) in a Japanese family with hereditary mixed polyposis syndrome. Miyahara Y, Ishida H, Kawabe K, Eto H, Kasai T, Ito T, Kaneko K, Arai M, Kamae N, Momose S, Eguchi H, Okazaki Y. J Clin Oncol. 2020 Jul 9;50(7):826-829. doi:10.1093/jjco/hyaa059. Clinically applicable cases of anti-programmed cell death protein 1 immunotherapy for colorectal cancer patients. Chikatani K, Chika N, Suzuki O, Sakimoto T, Ishibashi K, Eguchi H, Okazaki Y, Ishida H. Surg Today. 2020 Dec;50(12):1694-1698. doi: 10.1007/s00595-020-01998-5. GLIS1, a novel hypoxia-inducible transcription factor, promotes breast cancer cell motility via activation of WNT5A. Shimamoto K, Tanimoto K, Fukazawa T, Nakamura H, Kanai A, Bono H, Ono H, Eguchi H, Hirohashi N. Carcinogenesis. 2020 Sep 24;41(9):1184-1194. doi: 10.1093/carcin/bgaa010. A phase 2 study of intraperitoneal carboplatin plus intravenous dose-dense paclitaxel in front-line treatment of suboptimal residual ovarian cancer. Hasegawa K, Shimada M, Takeuchi S, Fujiwara H, Imai Y, Iwasa N, Wada S, Eguchi H, Oishi T, Sugiyama T, Suzuki M, Nishiyama M, Fujiwara K. Br J Cancer. 2020 Mar;122(6):766-770. doi: 10.1038/s41416-020-0734-9. Different phenotypes of gastric fundic gland polyposis and cancer in patients with familial adenomatous polyposis depending on Helicobacter pylori infection. Mitsui Y, Miyoshi A, Okamoto K, Muguruma N, Miyoshi J, Tanaka K, Kitamura S, Miyamoto H, Sato Y, Bando Y, Shunto J, Eguchi H, Okazaki Y, Ishida H, Takayama T. Gastric Cancer. 2019 Nov;22(6):1294-1300. doi: 10.1007/s10120-019-01005-y. Prevalence of Lynch syndrome among patients with upper urinary tract carcinoma in a Japanese hospital-based population. Ito T, Kono K, Eguchi H, Okazaki Y, Yamamoto G, Tachikawa T, Akagi K, Okada Y, Kawakami S, Morozumi M, Tamaru JI, Ishida H. Jpn J Clin Oncol. 2020 Jan 24;50(1):80-88. doi: 10.1093/jjco/hyz140. Expressions of 10 genes as candidate predictors of recurrence in stage III colon cancer patients receiving adjuvant oxaliplatin-based chemotherapy. Kumamoto K, Nakachi Y, Mizuno Y, Yokoyama M, Ishibashi K, Kosugi C, Koda K, Kobayashi M, Tanakaya K, Matsunami T, Eguchi H, Okazaki Y, Ishida H. Oncol Lett. 2019 Aug;18(2):1388-1394. doi: 10.3892/ol.2019.10437. A germline MBD4 mutation was identified in a patient with colorectal oligopolyposis and early‑onset cancer: A case report. Tanakaya K, Kumamoto K, Tada Y, Eguchi H, Ishibashi K, Idani H, Tachikawa T, Akagi K, Okazaki Y, Ishida H. Oncol Rep. 2019 Aug;18(2):1388-1394. doi: 10.3892/ol.2019.10437. 次世代シーケエンシング技術を用いた遺伝子解析による遺伝性消化管腫瘍症候群の診断法確立に関する研究グループ (SGHGCS). 江口英孝，岡﨑康司，石田秀行. 家族性腫瘍 2019; 19(1):15-18 【リンチ症候群と遺伝性消化管ポリポーシス】リンチ症候群関連の遺伝学的検査. 江口英孝、岡﨑康司. 臨床消化器内科 34巻6号 Page661-666(2019.05) The single-base-pair deletion, MSH2 c.2635-3delC affecting intron 15 splicing can be a cause of Lynch syndrome. Ito T, Yamaguchi T, Wakatsuki T, Suzuki T, Eguchi H, Okazaki Y, Yamamoto G, Tachikawa T, Kawakami S, Sasaki A, Akagi K, Ishida H. Jpn J Clin Oncol. 2019 May 1;49(5):477-480. doi: 10.1093/jjco/hyz031. 【腎泌尿器の遺伝性疾患・難病医療】次世代遺伝子解析技術を用いた希少難治性疾患の原因究明. 江口英孝、岡﨑康司. 腎臓内科・泌尿器科 9巻5号 Page442-447(2019.05) "Next-Generation Sequencing for Genetic Diagnosis of Hereditary Colorectal Cancer and Polyposis Syndrome" Eguchi H, Okazaki Y. in Recent Advances in the Treatment of Colorectal Cancer.115-125. Editors: Ishida, Hideyuki, Koda, Keiji (Eds.) Springer. 2019. ISBN 978-981-13-3050-6. First report of an Asian family with gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) revealed with the germline mutation of the APC exon 1B promoter region. Mitsui Y, Yokoyama R, Fujimoto S, Kagemoto K, Kitamura S, Okamoto K, Muguruma N, Bando Y, Eguchi H, Okazaki Y, Ishida H, Takayama T. Gastric Cancer. 2018 Nov;21(6):1058-1063. doi: 10.1007/s10120-018-0855-5. Prevalence and molecular characteristics of defective mismatch repair epithelial ovarian cancer in a Japanese hospital-based population. Tajima Y, Eguchi H, Chika N, Nagai T, Dechamethakun S, Kumamoto K, Tachikawa T, Akagi K, Tamaru JI, Seki H, Okazaki Y, Ishida H. Jpn J Clin Oncol. 2018 Aug 1;48(8):728-735. doi: 10.1093/jjco/hyy081. Characteristics of MUTYH variants in Japanese colorectal polyposis patients. Takao M, Yamaguchi T, Eguchi H, Tada Y, Kohda M, Koizumi K, Horiguchi SI, Okazaki Y, Ishida H. Int J Clin Oncol. 2018 Jun;23(3):497-503. Prevalence and molecular characteristics of DNA mismatch repair protein-deficient sebaceous neoplasms and keratoacanthomas in a Japanese hospital-based population. Kuwabara K, Suzuki O, Chika N, Kumamoto K, Minabe T, Fukuda T, Arai E, Tamaru JI, Akagi K, Eguchi H, Okazaki Y, Ishida H. Jpn J Clin Oncol. 2018 Jun 1;48(6):514-521. Bioavailable serum estradiol may alter radiation risk of postmenopausal breast cancer: a nested case-control study. Grant EJ, Cologne JB, Sharp GB, Eguchi H, Stevens RG, Izumi S, Kim YM, Berrington de González A, Ohishi W, Nakachi K. Int J Radiat Biol. 2018 Feb;94(2):97-105. Prevalence and clinicopathologic/molecular characteristics of mismatch repair-deficient colorectal cancer in the under-50-year-old Japanese population. Suzuki O, Eguchi H, Chika N, Sakimoto T, Ishibashi K, Kumamoto K, Tamaru JI, Tachikawa T, Akagi K, Arai T, Okazaki Y, Ishida H. Surg Today. 2017;47(9):1135-1146. Prevalence of Lynch syndrome and Lynch-like syndrome among patients with colorectal cancer in a Japanese hospital-based population. Chika N, Eguchi H, Kumamoto K, Suzuki O, Ishibashi K, Tachikawa T, Akagi K, Tamaru JI, Okazaki Y, Ishida H. Jpn J Clin Oncol (Oxford Journals):2017;47(2):108-117. Rapid detection of germline mutations for hereditary gastrointestinal polyposis/cancers using HaloPlex target enrichment and high-throughput sequencing technologies. Kohda M, Kumamoto K, Eguchi H, Hirata T, Tada Y, Tanakaya K, Akagi K, Takenoshita S, Iwama T, Ishida H, Okazaki Y. Fam Cancer. 2016;15(4):553-62. Identification of a Japanese Lynch syndrome patient with large deletion in the 3' region of the EPCAM gene. Eguchi H, Kumamoto K, uzuki O, Kohda M, Tada Y, Okazaki Y, Ishida H. Jpn J Clin Oncol. 2016;46(2):178-84. The A Allele at rs13419896 of EPAS1 Is Associated with Enhanced Expression and Poor Prognosis for Non-Small Cell Lung Cancer. Putra AC, Eguchi H, Lee KL, Yamane Y, Gustine E, Isobe T, Nishiyama M, Hiyama K, Poellinger L, Tanimoto K. PLoS One. 2015;10(8):e0134496. Lower prevalence of Lynch syndrome in colorectal cancer patients in a Japanese hospital-based population. Kumamoto K, Ishida H, Suzuki O, Tajima Y, Chika N, Kuwabara K, Ishibashi K, Saito K, Nagata K, Eguchi H, Tamaru J, Iwama T. Surg Today. 2016;46(6):713-20. Association of EPAS1 gene rs4953354 polymorphism with susceptibility to lung adenocarcinoma in female Japanese non-smokers. Iwamoto S, Tanimoto K, Nishio Y, Putra AC, Fuchita H, Ohe M, Sutani A, Kuraki T, Hiyama K, Murakami I, Eguchi H, Isobe T. J Thorac Oncol. 2014;9(11):1709-13. Cadherin 13 overexpression as an important factor related to the absence of tumor fluorescence in 5-aminolevulinic acid-guided resection of glioma. Suzuki T, Wada S, Eguchi H, Adachi J, Mishima K, Matsutani M, Nishikawa R, Nishiyama M. J Neurosurg. 2013;119(5):1331-9.

研究テーマ

固形腫瘍や難治性・希少疾患のゲノム科学的解析

研究業績（論文）

Ito T, Yamaguchi T, Kumamoto K, Suzuki O, Chika N, Kawakami S, Nagai T, Igawa T, Fujiyoshi K, Akagi Y, Arai T, Akagi K, Eguchi H, Okazaki Y, Ishida H.
Incidence and molecular characteristics of deficient mismatch repair conditions across nine different tumors and identification of germline variants involved in Lynch-like syndrome.
Int J Clin Oncol. 2024 Apr 14. doi: 10.1007/s10147-024-02518-y. Online ahead of print.

Successful management of acute graft-versus-host disease with ibrutinib during cord blood transplantation for germline DDX41-mutated acute myeloid leukemia.
Uchimura A, Yasuda H, Onagi H, Inano T, Shirane S, Ishii M, Azusawa Y, Hamano Y, Eguchi H, Arai M, Ando J, Ando M.
Heliyon. 2024 Jan 17;10(2):e24801. doi: 10.1016/j.heliyon.2024.e24801.

Sporadic gastric juvenile polyposis with a novel SMAD4 nonsense mutation in a mosaic pattern.
Matsuyama S, Fukuda A, Matsumoto A, Eguchi H, Ueo T, Ohana M, Seno H.
Clin J Gastroenterol. 2023 Nov 11. doi: 10.1007/s12328-023-01884-w. Online ahead of print.

A Case of Lamina Lucida-Type Linear IgA Disease Complicated by Colon Polyposis and Rectal Adenocarcinoma.
Akiko Miyazaki, Saori Itoi-Ochi, Mami Hayashi, Asako Ota, Kengo Nagai, Shinya Inoue, Naohiro Tomita, Hidetaka Eguchi, Yasushi Okazaki, Hideyuki Ishida, Takashi Hashimoto.
Case Reports in Dermatology 15(1) 126-132, 2023.

BRCAness of brain lesions reflects a worse outcome for patients with metastatic breast cancer.
Ishizuka Y, Horimoto Y, Eguchi H, Murakami F, Nakai K, Onagi H, Hayashi T, Ishikawa T, Arai M, Watanabe J.
Breast Cancer Res Treat. 2023 Sep 20. doi: 10.1007/s10549-023-07115-7. Online ahead of print.

PKD1 Mutation Is a Biomarker for Autosomal Dominant Polycystic Kidney Disease
Tomoki Kimura, Haruna Kawano, Satoru Muto, Nobuhito Muramoto, Toshiaki Takano, Yan Lu, Hidetaka Eguchi, Hiroo Wada, Yasushi Okazaki, Hisamitsu Ide, Shigeo Horie
Biomolecules 13(7) 1020-1020, 2023.

Attenuated Expression of SLCO2A1 Caused by DNA Methylation in Pediatric Inflammatory Bowel Disease.
Ito N, Kudo T, Eguchi H, Jimbo K, Furuhata A, Okuno T, Takeuchi I, Arai K, Ishige T, Okazaki Y, Shimizu T.
Inflamm Bowel Dis. 2023 Jun 16:izad116. doi: 10.1093/ibd/izad116. Online ahead of print.

A case of attenuated familial adenomatous polyposis in which genetic testing revealed that the children were asymptomatic gene carriers.
Sonoda H, Yamada T, Yamaguchi T, Eguchi H, Okazaki Y, Yoshida H, Ishida H.
Jpn J Clin Oncol. 2023 Jun 15:hyad065. doi: 10.1093/jjco/hyad065. Online ahead of print.

Resveratrol exhibits diverse anti-cancer activities through epigenetic regulation of E-cadherin and p21 in triple-negative breast cancer cells.Sakamoto T, Tanimoto K, Eguchi H, Sasaki S, Tsuboi K, Hayashi SI, Ichihara S.
Breast Cancer. 2023 May 11. doi: 10.1007/s12282-023-01465-2. Online ahead of print.

Gastric Juvenile Polyposis with Intramucosal Cancer Diagnosed by Magnifying Endoscopy with Narrow-band Imaging: A Case Report.
Utsunomiya H, Akazawa Y, Ueyama H, Iwano T, Yamamoto M, Uchida R, Oki S, Suzuki N, Abe D, Ikeda A, Takeda T, Ueda K, Hojo M, Yube Y, Kaji S, Okano S, Tsuyama S, Eguchi H, Okazaki Y, Arai M, Fukunaga T, Yao T, Nagahara A.
Intern Med. 2023 Mar 31. doi: 10.2169/internalmedicine.1612-23. Online ahead of print.

Rare germline variants in pancreatic cancer and multiple primary cancers: an autopsy study.
Fujitani H, Eguchi H, Kochi Y, Arai T, Muramatsu M, Okazaki Y.
Eur J Cancer Prev. 2023 Mar 2. doi: 10.1097/CEJ.0000000000000787. Online ahead of print.

The coexistence of TRPV6 variants with other pancreatitis-associated genes affects pediatric-onset pancreatitis.
Hirai S, Suzuki M, Sakurai Y, Nakano S, Minowa K, Eguchi H, Okazaki Y, Shimizu T.
J Pediatr Gastroenterol Nutr. 2023 Jan 4. doi: 10.1097/MPG.0000000000003700. Online ahead of print.

A novel germline SMAD4 variant detected in a Japanese family with juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia.
Kananazawa Y, Yamada T, Yamaguchi T, Saito Y, Kakinuma D, Masuda Y, Ando F, Ohashi R, Eguchi H, Okazaki Y, Ishida H, Yoshida H.
Jpn J Clin Oncol. 2022 Dec 22:hyac189. doi: 10.1093/jjco/hyac189. Online ahead of print.

Involvement of kallikrein-PAR2-proinflammatory pathway in severe trastuzumab-induced cardiotoxicity.
Sasaki R, Kurebayashi N, Eguchi H, Horimoto Y, Shiga T, Miyazaki S, Kashiyama T, Akamatsu W, Saito M.
Cancer Sci. 2022 Jul 25. doi: 10.1111/cas.15508. Online ahead of print.

Biomarker discovery for practice of precision medicine in hypopharyngeal cancer: a theranostic study on response prediction of the key therapeutic agents.
Kawata-Shimamura Y, Eguchi H, Kawabata-Iwakawa R, Nakahira M, Okazaki Y, Yoda T, Grénman R, Sugasawa M, Nishiyama M.
BMC Cancer. 2022 Jul 16;22(1):779. doi: 10.1186/s12885-022-09853-1.
PMID: 35841085

Molecular and clinicopathological analysis of three cases of gastric juvenile polyposis
Yamashiro Y, Yanai Y, Takeda T, Hayashi T, Akazawa Y, Yatagai N, Ueyama H, Eguchi H, Nagahara A, Yao T, Saito T
JGH Open 202

Promotion Effects of Smoking in Polyp Development in Monozygotic Twins with Atypical Colorectal Polyposis. Yoshida N, Ishikawa H, Eguchi H, Okazaki Y, Hirose R, Inoue K, Dohi O, Itoh Y, Mutoh M, Ishiguro S, Ishida H. Case Reports in Gastroenterology. 2022 June;16:375-381.

A COL4A1 variant in a neonate with multiple intracranial hemorrhages and congenital cataracts.
Yakabe A, Ikuse T, Ito N, Yamada H, Saito N, Kitamura Y, Iwasaki T, Ikeno M, Suganuma H, Abe S, Miyazaki N, Hisata K, Shoji H, Nakazawa T, Eguchi H, Shimizu T.
Hum Genome Var. 2022 Jun 10;9(1):24. doi: 10.1038/s41439-022-00199-5.

Recent trends in the morbidity and mortality in patients with familial adenomatous polyposis: a retrospective single institutional study in Japan. Mori Y, Amano K, Chikatani K, Ito T, Suzuki O, Kamae N, Hatano S, Chika N, Yamamoto A, Ishibashi K, Eguchi H, Okazaki Y, Iwama T, Ishida H. Int J Clin Oncol. 2022 Mar 11. doi: 10.1007/s10147-022-02146-4. Online ahead of print.

COL17A1 germline variant p.Ser1029Ala and mucosal malignant melanoma: An autopsy study.
Tong D, Tanaka M, Eguchi H, Okazaki Y, Muramatsu M, Arai T.
Mol Clin Oncol. 2022 Feb;16(2):32. doi: 10.3892/mco.2021.2465.

Trigenic ADH5/ALDH2/ADGRV1 mutations in myelodysplasia with Usher syndrome. Kinoshita S, Ando M, Ando J, Ishii M, Furukawa Y, Tomita O, Azusawa Y, Shirane S, Kishita Y, Yatsuka Y, Eguchi H, Okazaki Y, Komatsu N. Heliyon. 2021 Aug 14;7(8):e07804.

Identification of Lynch syndrome-associated DNA mismatch repair-deficient bladder cancer in a Japanese hospital-based population.
Kagawa M, Kawakami S, Yamamoto A, Suzuki O, Kamae N, Eguchi H, Okazaki Y, Yamamoto G, Akagi K, Tamaru JI, Yamaguchi T, Arai T, Ishida H.
Int J Clin Oncol. 2021 Aug;26(8):1524-1532.

APC germline variant analysis in the adenomatous polyposis phenotype in Japanese patients.
Takao M, Yamaguchi T, Eguchi H, Yamada T, Okazaki Y, Tomita N, Nomizu T, Momma T, Takayama T, Tanakaya K, Akagi K, Ishida H.
Int J Clin Oncol. 2021 Sep;26(9):1661-1670.

Germline deletion of chromosome 2p16-21 associated with Lynch syndrome.
Natsume S, Yamaguchi T, Eguchi H, Okazaki Y, Horiguchi SI, Ishida H.
Hum Genome Var. 2021 May 19;8(1):19. doi: 10.1038/s41439-021-00152-y.

Comprehensive analysis of DNA mismatch repair-deficient gastric cancer in a Japanese hospital-based population. Ito T, Suzuki O, Kamae N, Tamaru JI, Arai T, Yamaguchi T, Akagi K, Eguchi H, Okazaki Y, Mochiki E, Ishida H. Jpn J Clin Oncol. 2021 May 28;51(6):886-894. doi: 10.1093/jjco/hyab026.

Prevalence and clinicopathological/molecular characteristics of mismatch repair protein-deficient tumours among surgically treated patients with prostate cancer in a Japanese hospital-based population. Kagawa M, Kawakami S, Yamamoto A, Suzuki O, Eguchi H, Okazaki Y, Akagi K, Tamaru JI, Arai T, Yamaguchi T, Ishida H. Jpn J Clin Oncol. 2020 Nov 27:hyaa207. doi: 10.1093/jjco/hyaa207. Online ahead of print.

Prevalence and Molecular Characterization of Defective DNA Mismatch Repair in Small-bowel Carcinoma in a Japanese Hospital-based Population.
Ito T, Ishida H, Suzuki O, Chika N, Amano K, Ishibashi K, Kamae N, Tada Y, Akagi K, Eguchi H, Okazaki Y.
J Anus Rectum Colon. 2020;4(4):165-173.

Study profile of the Japan Multi-institutional Collaborative Cohort (J-MICC) Study.
Takeuchi K, Naito M, Kawai S, Tsukamoto M, Kadomatsu Y, Kubo Y, Okada R, Nagayoshi M, Tamura T, Hishida A, Nakatochi M, Sasakabe T, Hashimoto S, Eguchi H, Momozawa Y, Ikezaki H, Murata M, Furusyo N, Tanaka K, Hara M, Nishida Y, Matsuo K, Ito H, Oze I, Mikami H, Nakamura Y, Kusakabe M, Takezaki T, Ibusuki R, Shimoshikiryo I, Suzuki S, Nishiyama T, Watanabe M, Koyama T, Ozaki E, Watanabe I, Kuriki K, Kita Y, Ueshima H, Matsui K, Arisawa K, Uemura H, Katsuura-Kamano S, Nakamura S, Narimatsu H, Hamajima N, Tanaka H, Wakai K.
J Epidemiol. 2020 Sep 19. doi: 10.2188/jea.JE20200147. Online ahead of print.

Prevalence and molecular characteristics of DNA mismatch repair deficient endometrial cancer in a Japanese hospital-based population.
Yamamoto A, Yamaguchi T, Suzuki O, Ito T, Chika N, Kamae N, Tamaru JI, Nagai T, Seki H, Arai T, Tachikawa T, Akagi K, Eguchi H, Okazaki Y, Ishida H.
Jpn J Clin Oncol. 2021 Jan 1;51(1):60-69. doi: 10.1093/jjco/hyaa142.

A Model for Predicting DNA Mismatch Repair-deficient Colorectal Cancer. Chikatani K, Chika N, Suzuki O, Sakimoto T, Ishibashi K, Eguchi H, Okazaki Y, Ishida H. Anticancer Res. 2020 Aug;40(8):4379-4385. doi: 10.21873/anticanres.14441.

The first case report of polymerase proofreading-associated polyposis in POLD1 variant, c.1433G>A p.S478N, in Japan.
Ito T, Nomizu T, Eguchi H, Kamae N, Dechamethakun S, Akama Y, Endo G, Sugano K, Yoshida T, Okazaki Y, Ishida H.
Jpn J Clin Oncol. 2020 Sep 5;50(9):1080-1083. doi: 10.1093/jjco/hyaa090.

A novel germline BMPR1A variant (c.72_73delGA) in a Japanese family with hereditary mixed polyposis syndrome.
Miyahara Y, Ishida H, Kawabe K, Eto H, Kasai T, Ito T, Kaneko K, Arai M, Kamae N, Momose S, Eguchi H, Okazaki Y.
J Clin Oncol. 2020 Jul 9;50(7):826-829. doi:10.1093/jjco/hyaa059.

Clinically applicable cases of anti-programmed cell death protein 1 immunotherapy for colorectal cancer patients.
Chikatani K, Chika N, Suzuki O, Sakimoto T, Ishibashi K, Eguchi H, Okazaki Y, Ishida H.
Surg Today. 2020 Dec;50(12):1694-1698. doi: 10.1007/s00595-020-01998-5.

GLIS1, a novel hypoxia-inducible transcription factor, promotes breast cancer cell motility via activation of WNT5A.
Shimamoto K, Tanimoto K, Fukazawa T, Nakamura H, Kanai A, Bono H, Ono H, Eguchi H, Hirohashi N.
Carcinogenesis. 2020 Sep 24;41(9):1184-1194. doi: 10.1093/carcin/bgaa010.

A phase 2 study of intraperitoneal carboplatin plus intravenous dose-dense paclitaxel in front-line treatment of suboptimal residual ovarian cancer.
Hasegawa K, Shimada M, Takeuchi S, Fujiwara H, Imai Y, Iwasa N, Wada S, Eguchi H, Oishi T, Sugiyama T, Suzuki M, Nishiyama M, Fujiwara K.
Br J Cancer. 2020 Mar;122(6):766-770. doi: 10.1038/s41416-020-0734-9.

Different phenotypes of gastric fundic gland polyposis and cancer in patients with familial adenomatous polyposis depending on Helicobacter pylori infection.
Mitsui Y, Miyoshi A, Okamoto K, Muguruma N, Miyoshi J, Tanaka K, Kitamura S, Miyamoto H, Sato Y, Bando Y, Shunto J, Eguchi H, Okazaki Y, Ishida H, Takayama T.
Gastric Cancer. 2019 Nov;22(6):1294-1300. doi: 10.1007/s10120-019-01005-y.

Prevalence of Lynch syndrome among patients with upper urinary tract carcinoma in a Japanese hospital-based population.
Ito T, Kono K, Eguchi H, Okazaki Y, Yamamoto G, Tachikawa T, Akagi K, Okada Y, Kawakami S, Morozumi M, Tamaru JI, Ishida H.
Jpn J Clin Oncol. 2020 Jan 24;50(1):80-88. doi: 10.1093/jjco/hyz140.

Expressions of 10 genes as candidate predictors of recurrence in stage III colon cancer patients receiving adjuvant oxaliplatin-based chemotherapy. Kumamoto K, Nakachi Y, Mizuno Y, Yokoyama M, Ishibashi K, Kosugi C, Koda K, Kobayashi M, Tanakaya K, Matsunami T, Eguchi H, Okazaki Y, Ishida H. Oncol Lett. 2019 Aug;18(2):1388-1394. doi: 10.3892/ol.2019.10437.

A germline MBD4 mutation was identified in a patient with colorectal oligopolyposis and early‑onset cancer: A case report.
Tanakaya K, Kumamoto K, Tada Y, Eguchi H, Ishibashi K, Idani H, Tachikawa T, Akagi K, Okazaki Y, Ishida H.
Oncol Rep. 2019 Aug;18(2):1388-1394. doi: 10.3892/ol.2019.10437.

次世代シーケエンシング技術を用いた遺伝子解析による遺伝性消化管腫瘍症候群の診断法確立に関する研究グループ (SGHGCS). 江口英孝，岡﨑康司，石田秀行. 家族性腫瘍 2019; 19(1):15-18

【リンチ症候群と遺伝性消化管ポリポーシス】リンチ症候群関連の遺伝学的検査. 江口英孝、岡﨑康司. 臨床消化器内科 34巻6号 Page661-666(2019.05)

The single-base-pair deletion, MSH2 c.2635-3delC affecting intron 15 splicing can be a cause of Lynch syndrome.
Ito T, Yamaguchi T, Wakatsuki T, Suzuki T, Eguchi H, Okazaki Y, Yamamoto G, Tachikawa T, Kawakami S, Sasaki A, Akagi K, Ishida H.
Jpn J Clin Oncol. 2019 May 1;49(5):477-480. doi: 10.1093/jjco/hyz031.

【腎泌尿器の遺伝性疾患・難病医療】次世代遺伝子解析技術を用いた希少難治性疾患の原因究明. 江口英孝、岡﨑康司. 腎臓内科・泌尿器科 9巻5号 Page442-447(2019.05)

"Next-Generation Sequencing for Genetic Diagnosis of Hereditary Colorectal Cancer and Polyposis Syndrome" Eguchi H, Okazaki Y. in Recent Advances in the Treatment of Colorectal Cancer.115-125. Editors: Ishida, Hideyuki, Koda, Keiji (Eds.) Springer. 2019. ISBN 978-981-13-3050-6.

First report of an Asian family with gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) revealed with the germline mutation of the APC exon 1B promoter region.
Mitsui Y, Yokoyama R, Fujimoto S, Kagemoto K, Kitamura S, Okamoto K, Muguruma N, Bando Y, Eguchi H, Okazaki Y, Ishida H, Takayama T.
Gastric Cancer. 2018 Nov;21(6):1058-1063. doi: 10.1007/s10120-018-0855-5.

Prevalence and molecular characteristics of defective mismatch repair epithelial ovarian cancer in a Japanese hospital-based population.
Tajima Y, Eguchi H, Chika N, Nagai T, Dechamethakun S, Kumamoto K, Tachikawa T, Akagi K, Tamaru JI, Seki H, Okazaki Y, Ishida H.
Jpn J Clin Oncol. 2018 Aug 1;48(8):728-735. doi: 10.1093/jjco/hyy081.

Characteristics of MUTYH variants in Japanese colorectal polyposis patients.
Takao M, Yamaguchi T, Eguchi H, Tada Y, Kohda M, Koizumi K, Horiguchi SI, Okazaki Y, Ishida H.
Int J Clin Oncol. 2018 Jun;23(3):497-503.

Prevalence and molecular characteristics of DNA mismatch repair protein-deficient sebaceous neoplasms and keratoacanthomas in a Japanese hospital-based population.
Kuwabara K, Suzuki O, Chika N, Kumamoto K, Minabe T, Fukuda T, Arai E, Tamaru JI, Akagi K, Eguchi H, Okazaki Y, Ishida H.
Jpn J Clin Oncol. 2018 Jun 1;48(6):514-521.

Bioavailable serum estradiol may alter radiation risk of postmenopausal breast cancer: a nested case-control study.
Grant EJ, Cologne JB, Sharp GB, Eguchi H, Stevens RG, Izumi S, Kim YM, Berrington de González A, Ohishi W, Nakachi K.
Int J Radiat Biol. 2018 Feb;94(2):97-105.

Prevalence and clinicopathologic/molecular characteristics of mismatch
repair-deficient colorectal cancer in the under-50-year-old Japanese population. Suzuki O, Eguchi H, Chika N, Sakimoto T, Ishibashi K, Kumamoto K, Tamaru JI, Tachikawa T, Akagi K, Arai T, Okazaki Y, Ishida H. Surg Today. 2017;47(9):1135-1146.

Prevalence of Lynch syndrome and Lynch-like syndrome among patients with colorectal cancer in a Japanese hospital-based population. Chika N, Eguchi H, Kumamoto K, Suzuki O, Ishibashi K, Tachikawa T, Akagi K, Tamaru JI, Okazaki Y, Ishida H. Jpn J Clin Oncol (Oxford Journals):2017;47(2):108-117.

Rapid detection of germline mutations for hereditary gastrointestinal
polyposis/cancers using HaloPlex target enrichment and high-throughput sequencing technologies. Kohda M, Kumamoto K, Eguchi H, Hirata T, Tada Y, Tanakaya K, Akagi K, Takenoshita S, Iwama T, Ishida H, Okazaki Y. Fam Cancer. 2016;15(4):553-62.

Identification of a Japanese Lynch syndrome patient with large deletion in the 3' region of the EPCAM gene. Eguchi H, Kumamoto K, uzuki O, Kohda M, Tada Y, Okazaki Y, Ishida H. Jpn J Clin Oncol. 2016;46(2):178-84.

The A Allele at rs13419896 of EPAS1 Is Associated with Enhanced
Expression and Poor Prognosis for Non-Small Cell Lung Cancer. Putra AC, Eguchi H, Lee KL, Yamane Y, Gustine E, Isobe T, Nishiyama M, Hiyama K, Poellinger L, Tanimoto K. PLoS One. 2015;10(8):e0134496.

Lower prevalence of Lynch syndrome in colorectal cancer patients in a Japanese hospital-based population. Kumamoto K, Ishida H, Suzuki O, Tajima Y, Chika N, Kuwabara K, Ishibashi K, Saito K, Nagata K, Eguchi H, Tamaru J, Iwama T. Surg Today. 2016;46(6):713-20.

Association of EPAS1 gene rs4953354 polymorphism with susceptibility to lung adenocarcinoma in female Japanese non-smokers. Iwamoto S, Tanimoto K, Nishio Y, Putra AC, Fuchita H, Ohe M, Sutani A, Kuraki T, Hiyama K, Murakami I, Eguchi H, Isobe T. J Thorac Oncol. 2014;9(11):1709-13.

Cadherin 13 overexpression as an important factor related
to the absence of tumor fluorescence in 5-aminolevulinic
acid-guided resection of glioma. Suzuki T, Wada S, Eguchi H, Adachi
J, Mishima K, Matsutani M, Nishikawa R, Nishiyama M. J Neurosurg. 2013;119(5):1331-9.

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