scholarly journals Tu1672 – Prevalence of Gene Mutations in Patients At Increased Risk of Pancreatic Cancer: Impact of Multi-Gene Panel Testing

2019 ◽  
Vol 156 (6) ◽  
pp. S-1086
Author(s):  
Huili Zhu ◽  
Sara Welinsky ◽  
Emily Soper ◽  
Noura S. Abul-Husn ◽  
Aimee L. Lucas
Keyword(s):  
Pancreatic Cancer ◽  
Gene Mutations ◽  
Gene Panel ◽  
Panel Testing ◽  
Gene Panel Testing ◽  
Increased Risk

scholarly journals Extended gene panel testing in lobular breast cancer

2021 ◽  
Author(s):  
Elke M. van Veen ◽  
D. Gareth Evans ◽  
Elaine F. Harkness ◽  
Helen J. Byers ◽  
Jamie M. Ellingford ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Testing ◽  
Detection Rate ◽  
Gene Panel ◽  
Lobular Breast Cancer ◽  
Germline Variants ◽  
Panel Testing ◽  
Pathogenic Variants ◽  
Gene Panel Testing ◽  
Increased Risk

AbstractPurpose: Lobular breast cancer (LBC) accounts for ~ 15% of breast cancer. Here, we studied the frequency of pathogenic germline variants (PGVs) in an extended panel of genes in women affected with LBC. Methods: 302 women with LBC and 1567 without breast cancer were tested for BRCA1/2 PGVs. A subset of 134 LBC affected women who tested negative for BRCA1/2 PGVs underwent extended screening, including: ATM, CDH1, CHEK2, NBN, PALB2, PTEN, RAD50, RAD51D, and TP53.Results: 35 PGVs were identified in the group with LBC, of which 22 were in BRCA1/2. Ten actionable PGVs were identified in additional genes (ATM(4), CDH1(1), CHEK2(1), PALB2(2) and TP53(2)). Overall, PGVs in three genes conferred a significant increased risk for LBC. Odds ratios (ORs) were: BRCA1: OR = 13.17 (95%CI 2.83–66.38; P = 0.0017), BRCA2: OR = 10.33 (95%CI 4.58–23.95; P < 0.0001); and ATM: OR = 8.01 (95%CI 2.52–29.92; P = 0.0053). We did not detect an increased risk of LBC for PALB2, CDH1 or CHEK2. Conclusion: The overall PGV detection rate was 11.59%, with similar rates of BRCA1/2 (7.28%) PGVs as for other actionable PGVs (7.46%), indicating a benefit for extended panel genetic testing in LBC. We also report a previously unrecognised association of pathogenic variants in ATM with LBC.

scholarly journals Detection of Germline Mutations in a Cohort of 139 Patients with Bilateral Breast Cancer by Multi-Gene Panel Testing: Impact of Pathogenic Variants in Other Genes beyond BRCA1/2

Cancers ◽  
2020 ◽  
Vol 12 (9) ◽  
pp. 2415 ◽  
Author(s):  
Daniele Fanale ◽  
Lorena Incorvaia ◽  
Clarissa Filorizzo ◽  
Marco Bono ◽  
Alessia Fiorino ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Susceptibility ◽  
Bilateral Breast Cancer ◽  
Significant Proportion ◽  
Susceptibility Genes ◽  
Gene Panel ◽  
Panel Testing ◽  
Cancer Susceptibility Genes ◽  
Gene Panel Testing ◽  
Increased Risk

Patients with unilateral breast cancer (UBC) have an increased risk of developing bilateral breast cancer (BBC). The annual risk of contralateral BC is about 0.5%, but increases by up to 3% in BRCA1 or BRCA2 pathogenic variant (PV) carriers. Our study was aimed to evaluate whether all BBC patients should be offered multi-gene panel testing, regardless their cancer family history and age at diagnosis. We retrospectively collected all clinical information of 139 BBC patients genetically tested for germline PVs in different cancer susceptibility genes by NGS-based multi-gene panel testing. Our investigation revealed that 52 (37.4%) out of 139 BBC patients harbored germline PVs in high- and intermediate-penetrance breast cancer (BC) susceptibility genes including BRCA1, BRCA2, PTEN, PALB2, CHEK2, ATM, RAD51C. Nineteen out of 53 positively tested patients harbored a PV in a known BC susceptibility gene (no-BRCA). Interestingly, in the absence of an analysis performed via multi-gene panel, a significant proportion (14.4%) of PVs would have been lost. Therefore, offering a NGS-based multi-gene panel testing to all BBC patients may significantly increase the detection rates of germline PVs in other cancer susceptibility genes beyond BRCA1/2, avoiding underestimation of the number of individuals affected by a hereditary tumor syndrome.

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.

Clinical utility of a sponsored, no-cost skeletal dysplasia gene panel testing program: Results from 850 tests

2021 ◽  
Vol 132 (2) ◽  
pp. S98
Author(s):  
Guillermo Seratti ◽  
Vikram Pansare ◽  
Tiffany Yar Pang ◽  
Emanuela Izzo ◽  
William Mackenzie ◽  
...  
Keyword(s):  
Skeletal Dysplasia ◽  
Clinical Utility ◽  
Gene Panel ◽  
Testing Program ◽  
Panel Testing ◽  
Gene Panel Testing

Clinical utility of a sponsored, no-cost skeletal dysplasia gene panel testing program: results from 850 tests

2021 ◽  
Vol 132 ◽  
pp. S201
Author(s):  
Guillermo Seratti ◽  
Tiffany Pang ◽  
Vikram Pansare ◽  
Emanuela Izzo ◽  
William Mackenzie ◽  
...  
Keyword(s):  
Skeletal Dysplasia ◽  
Clinical Utility ◽  
Gene Panel ◽  
Testing Program ◽  
Panel Testing ◽  
Gene Panel Testing

scholarly journals Clinical implementation of gene panel testing for lysosomal storage diseases

2018 ◽  
Vol 7 (2) ◽  
Author(s):  
Alexander Gheldof ◽  
Sara Seneca ◽  
Katrien Stouffs ◽  
Willy Lissens ◽  
Anna Jansen ◽  
...  
Keyword(s):  
Lysosomal Storage Diseases ◽  
Gene Panel ◽  
Lysosomal Storage ◽  
Clinical Implementation ◽  
Storage Diseases ◽  
Panel Testing ◽  
Gene Panel Testing

scholarly journals MS3-1 IMPLEMENTATION OF GENE PANEL TESTING USING NEXT-GENERATION SEQUENCING

2019 ◽  
Vol 1 (Supplement_2) ◽  
pp. ii3-ii3
Author(s):  
Kazuko Sakai
Keyword(s):  
Cancer Treatment ◽  
Gene Mutation ◽  
Diagnostic Testing ◽  
Gene Panel ◽  
Panel Testing ◽  
Formalin Fixed Paraffin ◽  
Gene Panel Testing ◽  
Companion Diagnostic ◽  
Formalin Fixed Paraffin Embedded ◽  
Formalin Fixed

Abstract The advance of next-generation sequencers (NGS) has dramatically improved the performance of genomic analysis of clinical samples in cancer precision medicine. The practical use of gene panel testing for clinical applications has begun in Japan. At present, “OncomineTM Dx Target Test” is listed as a companion diagnostic system using NGS, and “FoundationOne CDx Cancer Genomic Profile” and “OncoGuide™ NCC Oncopanel System” are listed as gene panel testing under insurance coverage. Formalin-fixed paraffin-embedded specimen have been routinely used for molecular diagnosis testing, therefore quality control such as formalin fixation time and tumor contents is important to ensure validity of diagnostic results. In this presentation, the issue to obtain evaluable results of gene panel testing using formalin-fixed paraffin-embedded specimen will be discussed. Due to evolution of detection technologies, we can detect gene mutation with high sensitivity. Detection of gene mutation in circulating tumor DNA is feasible approach for diagnostic testing in cancer treatment. Liquid biopsy has been approved as a companion diagnostic testing to detect EGFR mutations in NSCLC. Examples of the clinical utility of plasma testing in cancer treatment will be presented.

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