Outcomes of disease-specific next-generation sequencing gene panel testing in adolescents and young adults with colorectal cancer

2019 ◽  
Vol 235-236 ◽  
pp. 77-83
Author(s):  
Maureen E. Mork ◽  
Andrea Rodriguez ◽  
Sarah A. Bannon ◽  
Patrick M. Lynch ◽  
Miguel A. Rodriguez-Bigas ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Young Adults ◽  
Next Generation Sequencing ◽  
Gene Panel ◽  
Adolescents And Young Adults ◽  
Next Generation ◽  
Panel Testing ◽  
Gene Panel Testing ◽  
Generation Sequencing ◽  
Disease Specific

scholarly journals Next-generation Sequencing-based Test for Resectable Colorectal Cancer in Real-world Clinical Practice

2021 ◽  
Author(s):  
Masayo Ogiri ◽  
Ryo Seishima ◽  
Kohei Nakamura ◽  
Eriko Aimono ◽  
Shimpei Matsui ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Next Generation Sequencing ◽  
Real World ◽  
Gene Panel ◽  
Stage I ◽  
Next Generation ◽  
Panel Testing ◽  
Gene Panel Testing ◽  
Ngs Data ◽  
Generation Sequencing

Abstract Purpose: This study aimed to evaluate the significance of Next-generation sequencing (NGS)-based gene panel testing in resectable colorectal cancers (CRC)s by analyzing real-world data collected prospectively from patients. Methods: Patients with CRC who underwent surgery from July 2018 to February 2020 at our institution were included, and correlations between various NGS data and clinicopathological findings were evaluated. Results: Overall, 107 patients were included in this study. The tumor stage was I in 28 cases (26.2%), II in 40 cases (37.4%), III in 32 cases (29.9%), and IV in 7 cases (6.5%). Actionable gene alterations were found in 97.2% of the cases. Co-alteration analysis suggested that either TP53- or APC-related alterations were more frequently found in early-stage tumors (stage I). The copy number alteration count was significantly lower in right side colon tumors than in tumors in other locations (P < 0.05). Homologous recombination deficiency (HRD) was more often identified in stage IV tumors than in stage I or II tumors (P < 0.05). Moreover, high HRD status was suggested to be useful for identifying high-risk stage II tumors (P < 0.05). Conclusion: In this study, real-world NGS data represented the biological features of CRCs. HRD was identified as a useful result of gene panel testing with novel utility in clinical practice.

Utility of multi-gene panel testing with next generation sequencing in women with endometrial cancer.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. 5588-5588
Author(s):  
Jing-Yi Chern ◽  
Nigel Madden ◽  
Jessica Lee ◽  
Deanna Gerber ◽  
Anna Cantor ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Family History ◽  
Gynecologic Cancer ◽  
Gene Mutations ◽  
Gene Panel ◽  
Next Generation ◽  
Mmr Genes ◽  
Panel Testing ◽  
Gene Panel Testing ◽  
Generation Sequencing

5588 Background: Lynch syndrome (LS) accounts for 2-6% of all endometrial cancers (EC), and women with a germline mutation in the mismatch repair (MMR) genes ( MLH1, MSH2, MSH6, and PMS2) have an average lifetime risk of EC of 40%. As with breast and ovarian cancer syndromes, there are likely other genes implicated in the development of EC outside of the MMR genes. Multi-gene panel testing (MGPT) with next generation sequencing (NGS) allows for simultaneous analysis of numerous genes.We sought to evaluate the characteristics and incidence of gene mutations in women with newly diagnosed EC. Methods: We conducted a review of EC patients diagnosed from 6/2013 to 12/2016 who had MGPT at our institution. Demographics, family history, genetic testing results, and tumor characteristics were collected and analyzed using χ2 tests. Results: Of the 129 patients who had MGPT, 13 (10%) had a mutation and only 5 (38%) were in patients < 50 years old. The median age of EC diagnosis is 55 (31-100) years and median BMI = 27.5 (21-59). Majority were stage 1, 76 (59%) and grade 1, 50 (39%). Patients with additional primary cancers, breast or colon were not more likely to have a mutation. However, patients with a family history of gynecologic cancer were more likely to have a mutation identified, 10 (77%) mutation vs no mutation 34 (29%), p = 0.003. Among all patients tested, 8 (6%) had a mutation in LS genes, and 6 (5%) had mutations in other genes ( BRCA1, BRCA2, RAD51C, MUTYH, CHEK2); 1 (0.8%) had both MSH2 and CHEK2 mutation. Three patients had prior testing for breast cancer; 2 were found to have a BRCA1/ 2 mutation and the other was on Tamoxifen and BRCA negative. IHC was performed on 7 of 13 patients, and 5 (71%) had a loss of MMR protein expression. Variants of uncertain significance were noted in 35/129 (27%) of patients tested. Conclusions: Majority of EC patients with a mutation detected with NGS were > age 50. We identified additional new mutations in non-LS genes including, CHEK2, RAD51C, and MUYTH with MGPT. These accounted for 29% of the mutations and would have not been not detected using classic LS gene testing. These genes are implicated in breast, ovary or colon cancer. MGPT testing is feasible and useful in identifying additional actionable gene mutations.

Next‐generation sequencing through multi‐gene panel testing for diagnosis of hereditary ichthyosis in Chinese

2020 ◽  
Vol 97 (5) ◽  
pp. 770-778 ◽  
Author(s):  
Ruhong Cheng ◽  
Jianying Liang ◽  
Yue Li ◽  
Jia Zhang ◽  
Cheng Ni ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Gene Panel ◽  
Next Generation ◽  
Panel Testing ◽  
Gene Panel Testing ◽  
Generation Sequencing

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.

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