scholarly journals Japanese Society for Cancer of the Colon and Rectum (JSCCR) guidelines 2020 for the Clinical Practice of Hereditary Colorectal Cancer

2021 ◽  
Author(s):  
Naohiro Tomita ◽  
Hideyuki Ishida ◽  
Kohji Tanakaya ◽  
Tatsuro Yamaguchi ◽  
Kensuke Kumamoto ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Clinical Practice ◽  
Japanese Society ◽  
Genomic Medicine ◽  
Hereditary Colorectal Cancer ◽  
Sporadic Colorectal Cancer ◽  
Cancer Management ◽  
Gene Panel Testing ◽  
New Findings ◽  
Colon And Rectum

AbstractHereditary colorectal cancer (HCRC) accounts for < 5% of all colorectal cancer cases. Some of the unique characteristics commonly encountered in HCRC cases include early age of onset, synchronous/metachronous cancer occurrence, and multiple cancers in other organs. These characteristics necessitate different management approaches, including diagnosis, treatment or surveillance, from sporadic colorectal cancer management. There are two representative HCRC, named familial adenomatous polyposis and Lynch syndrome. Other than these two HCRC syndromes, related disorders have also been reported. Several guidelines for hereditary disorders have already been published worldwide. In Japan, the first guideline for HCRC was prepared by the Japanese Society for Cancer of the Colon and Rectum (JSCCR), published in 2012 and revised in 2016. This revised version of the guideline was immediately translated into English and published in 2017. Since then, several new findings and novel disease concepts related to HCRC have been discovered. The currently diagnosed HCRC rate in daily clinical practice is relatively low; however, this is predicted to increase in the era of cancer genomic medicine, with the advancement of cancer multi-gene panel testing or whole genome testing, among others. Under these circumstances, the JSCCR guidelines 2020 for HCRC were prepared by consensus among members of the JSCCR HCRC Guideline Committee, based on a careful review of the evidence retrieved from literature searches, and considering the medical health insurance system and actual clinical practice settings in Japan. Herein, we present the English version of the JSCCR guidelines 2020 for HCRC.

scholarly journals Japanese Society for Cancer of the Colon and Rectum (JSCCR) Guidelines 2016 for the Clinical Practice of Hereditary Colorectal Cancer (Translated Version)

2018 ◽  
Vol 2 (Suppl.I) ◽  
pp. S1-S51 ◽  
Author(s):  
Hideyuki Ishida ◽  
Tatsuro Yamaguchi ◽  
Kohji Tanakaya ◽  
Kiwamu Akagi ◽  
Yasuhiro Inoue ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Clinical Practice ◽  
Japanese Society ◽  
Hereditary Colorectal Cancer ◽  
Colon And Rectum

scholarly journals Next Generation Sequencing in Molecular Diagnosis of Lynch Syndrome – a Pilot Study Using New Stratification Criteria

2018 ◽  
Vol 61 (3) ◽  
pp. 98-102 ◽  
Author(s):  
Ivana Kašubová ◽  
Veronika Holubeková ◽  
Katarína Janíková ◽  
Barbora Váňová ◽  
Zuzana Sňahničanová ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Next Generation Sequencing ◽  
Pilot Study ◽  
Lynch Syndrome ◽  
New Technologies ◽  
Braf V600e ◽  
Sporadic Colorectal Cancer ◽  
Next Generation ◽  
Gene Panel Testing ◽  
Generation Sequencing

The development of the new technologies such as the next-generation sequencing (NGS) makes more accessible the diagnosis of genetically heterogeneous diseases such as Lynch syndrome (LS). LS is one of the most common hereditary form of colorectal cancer. This autosomal dominant inherited disorder is caused by deleterious germline mutations in one of the mismatch repair (MMR) genes – MLH1, MSH2, MSH6 or PMS2, or the deletion in the EPCAM gene. These mutations eventually result in microsatellite instability (MSI), which can be easily tested in tumor tissue. According to the actual recommendations, all patients with CRC that are suspect to have LS, should be offered the MSI testing. When the MSI is positive, these patients should be recommended to genetic counseling. Here we report a pilot study about the application of NGS in the LS diagnosis in patients considered to have sporadic colorectal cancer. The inclusion criteria for the NGS testing were MSI positivity, BRAF V600E and MHL1 methylation negativity. We have used 5 gene amplicon based massive parallel sequencing on MiSeq platform. In one patient, we have identified a new pathogenic mutation in the exon 4 of the MSH6 gene that was previously not described in ClinVar, Human Gene Mutation Database, Ensembl and InSight databases. This mutation was confirmed by the Sanger method. We have shown that the implementation of new criteria for colorectal patients screening are important in clinical praxis and the NGS gene panel testing is suitable for routine laboratory settings.

scholarly journals Expanding the genotype–phenotype spectrum in hereditary colorectal cancer by gene panel testing

2016 ◽  
Vol 16 (2) ◽  
pp. 195-203 ◽  
Author(s):  
Anna Rohlin ◽  
Eva Rambech ◽  
Anders Kvist ◽  
Therese Törngren ◽  
Frida Eiengård ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Hereditary Colorectal Cancer ◽  
Gene Panel ◽  
Panel Testing ◽  
Gene Panel Testing

scholarly journals Japanese Society for Cancer of the Colon and Rectum (JSCCR) guidelines 2019 for the treatment of colorectal cancer

2019 ◽  
Vol 25 (1) ◽  
pp. 1-42 ◽  
Author(s):  
Yojiro Hashiguchi ◽  
◽  
Kei Muro ◽  
Yutaka Saito ◽  
Yoshinori Ito ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Japanese Society ◽  
Colon And Rectum

scholarly journals Hereditary Colorectal Cancer Syndromes: American Society of Clinical Oncology Clinical Practice Guideline Endorsement of the Familial Risk–Colorectal Cancer: European Society for Medical Oncology Clinical Practice Guidelines

2015 ◽  
Vol 33 (2) ◽  
pp. 209-217 ◽  
Author(s):  
Elena M. Stoffel ◽  
Pamela B. Mangu ◽  
Stephen B. Gruber ◽  
Stanley R. Hamilton ◽  
Matthew F. Kalady ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Clinical Practice ◽  
Practice Guidelines ◽  
Clinical Practice Guideline ◽  
European Society ◽  
Medical Oncology ◽  
Familial Risk ◽  
Hereditary Colorectal Cancer ◽  
American Society ◽  
Cancer Syndromes

Purpose To provide recommendations on prevention, screening, genetics, treatment, and management for people at risk for hereditary colorectal cancer (CRC) syndromes. The American Society of Clinical Oncology (ASCO) has a policy and set of procedures for endorsing clinical practice guidelines that have been developed by other professional organizations. Methods The Familial Risk–Colorectal Cancer: European Society for Medical Oncology Clinical Practice Guideline published in 2013 on behalf of the European Society for Medical Oncology (ESMO) Guidelines Working Group in Annals of Oncology was reviewed for developmental rigor by methodologists, with content and recommendations reviewed by an ASCO endorsement panel. Results The ASCO endorsement panel determined that the recommendations of the ESMO guidelines are clear, thorough, and based on the most relevant scientific evidence. The ASCO panel endorsed the ESMO guidelines and added a few qualifying statements. Recommendations Approximately 5% to 6% of patient cases of CRC are associated with germline mutations that confer an inherited predisposition for cancer. The possibility of a hereditary cancer syndrome should be assessed for every patient at the time of CRC diagnosis. A diagnosis of Lynch syndrome, familial adenomatous polyposis, or another genetic syndrome can influence clinical management for patients with CRC and their family members. Screening for hereditary cancer syndromes in patients with CRC should include review of personal and family histories and testing of tumors for DNA mismatch repair deficiency and/or microsatellite instability. Formal genetic evaluation is recommended for individuals who meet defined criteria.

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