Study Group for Establishment of Diagnosis of Hereditary Gastrointestinal Tract Cancer Syndromes Based on a Next-Generation Sequencing Technology
Clinical features of the hereditary gastrointestinal cancer syndrome overlap each other to some extent, and thus it is sometimes difficult to provide a definite diagnosis solely based on the clinico-pathological factors and family cancer history. In order to solve this big-issue, we established a St...
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| Published in | JOURNAL OF FAMILIAL TUMORS Vol. 19; no. 1; pp. 15 - 18 |
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| Main Authors | , , , |
| Format | Journal Article |
| Language | Japanese |
| Published |
The Japanese Society for Familial Tumors
2019
一般社団法人日本遺伝性腫瘍学会 The Japanese Society for Hereditary Tumors |
| Subjects | |
| Online Access | Get full text |
| ISSN | 1346-1052 2189-6674 |
| DOI | 10.18976/jsft.19.1_15 |
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| Abstract | Clinical features of the hereditary gastrointestinal cancer syndrome overlap each other to some extent, and thus it is sometimes difficult to provide a definite diagnosis solely based on the clinico-pathological factors and family cancer history. In order to solve this big-issue, we established a Study Group for Establishment of Diagnosis of Hereditary Gastrointestinal Tract Cancer Syndromes Based on a Next-Generation Sequencing Technology (SGHGCS) in 2013. We briefly summarize our research activities thus far in accordance with the related ones of domestic and international. In 2019, the era of cancer-genome medicine comes finally true here in Japan. Numbers of problems to be solved about this are assumed. A possible establishment of a collaborative relationship among various study groups relative to the familial cancer may provide a clue to cope with these important matters. |
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| AbstractList | Clinical features of the hereditary gastrointestinal cancer syndrome overlap each other to some extent, and thus it is sometimes difficult to provide a definite diagnosis solely based on the clinico-pathological factors and family cancer history. In order to solve this big-issue, we established a Study Group for Establishment of Diagnosis of Hereditary Gastrointestinal Tract Cancer Syndromes Based on a Next-Generation Sequencing Technology (SGHGCS) in 2013. We briefly summarize our research activities thus far in accordance with the related ones of domestic and international. In 2019, the era of cancer-genome medicine comes finally true here in Japan. Numbers of problems to be solved about this are assumed. A possible establishment of a collaborative relationship among various study groups relative to the familial cancer may provide a clue to cope with these important matters.
遺伝性の消化管腫瘍症候群は，相互に表現型（大腸や他臓器での腫瘍の発生，ポリープの分布形式や組織型）が複雑に重複し，臨床所見や家族歴からのみでは臨床的診断そのものが困難な場合がしばしば認められる．このような問題を解決するために，我々は2013年に次世代シーケ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）を立ち上げ，活動を行ってきた．これまでの我々の活動について国内外の状況と併せて紹介すると共に，家族性腫瘍学会に関連する他の研究グループとの協力関係構築の可能性について，2019年度に本格化するがんゲノム医療を想定し，現在のゲノム医療が抱える問題点についても触れながら，期待する将来像を述べる． Clinical features of the hereditary gastrointestinal cancer syndrome overlap each other to some extent, and thus it is sometimes difficult to provide a definite diagnosis solely based on the clinico-pathological factors and family cancer history. In order to solve this big-issue, we established a Study Group for Establishment of Diagnosis of Hereditary Gastrointestinal Tract Cancer Syndromes Based on a Next-Generation Sequencing Technology (SGHGCS) in 2013. We briefly summarize our research activities thus far in accordance with the related ones of domestic and international. In 2019, the era of cancer-genome medicine comes finally true here in Japan. Numbers of problems to be solved about this are assumed. A possible establishment of a collaborative relationship among various study groups relative to the familial cancer may provide a clue to cope with these important matters. |
| Author | Okazaki, Yasushi Ishida, Hideyuki Eguchi, Hidetaka SGHGCS |
| Author_FL | 石田 秀行 岡﨑 康司 SGHGCSグループ 江口 英孝 |
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| DocumentTitle_FL | 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） |
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| References | 11）Kalia SS, Adelman K, Bale SJ, et al. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0) : a policy statement of the American College of Medical Genetics and Genomics. Genet Med. 2017:19:249–255. 5）Eguchi H, Kumamoto K, Suzuki O, et al. Identification of a Japanese Lynch syndrome patient with large deletion in the 3' region of the EPCAM gene. Jpn J Clin Oncol. 2016:46:178–184. 10）Ito T, Yamaguchi T, Wakatsuki T et al. The single-base-pair deletion, MSH2 c.2635-3delC affecting intron 15 splicing can be a cause of Lynch syndrome. Jpn J Clin Oncol. 2019. In press. 1）Eguchi H, Okazaki Y. Next-Generation Sequencing for Genetic Diagnosis of Hereditary Colorectal Cancer and Polyposis Syndrome. In: Recent Advances in the Treatment of Colorectal Cancer. Editors:Ishida H, Koda K. Springer 2019: 115–125. 6）Tajima Y, Eguchi H, Chika N, et al. Prevalence and molecular characteristics of defective mismatch repair epithelial ovarian cancer in a Japanese hospital-based population. Jpn J Clin Oncol. 2018:8:728–735. 7）Kuwabara K, Suzuki O, Chika N, et al. Prevalence and molecular characteristics of DNA mismatch repair protein-deficient sebaceous neoplasms and keratoacanthomas in a Japanese hospital-based population. Jpn J Clin Oncol. 2018:48:514–521. 8）Takao M, Yamaguchi T, Eguchi H, et al. Characteristics of MUTYH variants in Japanese colorectal polyposis patients. Int J Clin Oncol. 2018 :23:497–503. 2）Kohda M, Kumamoto K, Eguchi H, et al. Rapid detection of germline mutations for hereditary gastrointestinal polyposis/cancers using HaloPlex target enrichment and high-throughput sequencing technologies. Fam Cancer. 2016:15:553–62. 4）Suzuki O, Eguchi H, Chika N, et al. Prevalence and clinicopathologic/molecular characteristics of mismatch repair-deficient colorectal cancer in the under-50-year-old Japanese population. Surg Today. 2017:47:1135–1146. 3）Chika N, Eguchi H, Kumamoto K, et al. Prevalence of Lynch syndrome and Lynch-like syndrome among patients with colorectal cancer in a Japanese hospital-based population. Jpn J Clin Oncol. 2017:47:108–117. 9）Mitsui Y, Yokoyama R, Fujimoto S, et al. 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. Gastric Cancer. 2018:21:1058–1063. |
| References_xml | – reference: 9）Mitsui Y, Yokoyama R, Fujimoto S, et al. 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. Gastric Cancer. 2018:21:1058–1063. – reference: 6）Tajima Y, Eguchi H, Chika N, et al. Prevalence and molecular characteristics of defective mismatch repair epithelial ovarian cancer in a Japanese hospital-based population. Jpn J Clin Oncol. 2018:8:728–735. – reference: 8）Takao M, Yamaguchi T, Eguchi H, et al. Characteristics of MUTYH variants in Japanese colorectal polyposis patients. Int J Clin Oncol. 2018 :23:497–503. – reference: 4）Suzuki O, Eguchi H, Chika N, et al. Prevalence and clinicopathologic/molecular characteristics of mismatch repair-deficient colorectal cancer in the under-50-year-old Japanese population. Surg Today. 2017:47:1135–1146. – reference: 3）Chika N, Eguchi H, Kumamoto K, et al. Prevalence of Lynch syndrome and Lynch-like syndrome among patients with colorectal cancer in a Japanese hospital-based population. Jpn J Clin Oncol. 2017:47:108–117. – reference: 10）Ito T, Yamaguchi T, Wakatsuki T et al. The single-base-pair deletion, MSH2 c.2635-3delC affecting intron 15 splicing can be a cause of Lynch syndrome. Jpn J Clin Oncol. 2019. In press. – reference: 7）Kuwabara K, Suzuki O, Chika N, et al. Prevalence and molecular characteristics of DNA mismatch repair protein-deficient sebaceous neoplasms and keratoacanthomas in a Japanese hospital-based population. Jpn J Clin Oncol. 2018:48:514–521. – reference: 11）Kalia SS, Adelman K, Bale SJ, et al. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0) : a policy statement of the American College of Medical Genetics and Genomics. Genet Med. 2017:19:249–255. – reference: 1）Eguchi H, Okazaki Y. Next-Generation Sequencing for Genetic Diagnosis of Hereditary Colorectal Cancer and Polyposis Syndrome. In: Recent Advances in the Treatment of Colorectal Cancer. Editors:Ishida H, Koda K. Springer 2019: 115–125. – reference: 5）Eguchi H, Kumamoto K, Suzuki O, et al. Identification of a Japanese Lynch syndrome patient with large deletion in the 3' region of the EPCAM gene. Jpn J Clin Oncol. 2016:46:178–184. – reference: 2）Kohda M, Kumamoto K, Eguchi H, et al. Rapid detection of germline mutations for hereditary gastrointestinal polyposis/cancers using HaloPlex target enrichment and high-throughput sequencing technologies. Fam Cancer. 2016:15:553–62. |
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| SubjectTerms | Gastrointestinal cancer syndrome, next-generation sequencer, genetic test 消化管腫瘍症候群，次世代シーケンサー，遺伝学的検査 |
| Title | Study Group for Establishment of Diagnosis of Hereditary Gastrointestinal Tract Cancer Syndromes Based on a Next-Generation Sequencing Technology |
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