scholarly journals Impact of deleterious variants in other genes beyond BRCA1/2 in breast/ovarian and pancreatic cancer patients by NGS-based multi-gene panel testing

Qeios ◽  
2022 ◽  
Author(s):  
Antonio Russo
Keyword(s):  
Pancreatic Cancer ◽  
Cancer Patients ◽  
Gene Panel ◽  
Panel Testing ◽  
Gene Panel Testing

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

Feasibility of perioperative multi-gene panel testing (MGPT) in cancer patients eligible for hereditary genetic evaluation (GE): The PROTECT pilot.

2018 ◽  
Vol 36 (15_suppl) ◽  
pp. 1536-1536
Author(s):  
Michael J. Hall ◽  
Elizabeth A. Handorf ◽  
Andrea Forman ◽  
Yana Chertock ◽  
Elias Obeid ◽  
...  
Keyword(s):  
Cancer Patients ◽  
Genetic Evaluation ◽  
Gene Panel ◽  
Panel Testing ◽  
Gene Panel Testing

scholarly journals Gene-panel testing of breast and ovarian cancer patients identifies a recurrentRAD51Cduplication

2018 ◽  
Vol 93 (3) ◽  
pp. 595-602 ◽  
Author(s):  
L.M. Pelttari ◽  
H. Shimelis ◽  
H. Toiminen ◽  
A. Kvist ◽  
T. Törngren ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Cancer Patients ◽  
Gene Panel ◽  
Breast And Ovarian Cancer ◽  
Panel Testing ◽  
Gene Panel Testing

Detection of inherited mutations in Brazilian breast cancer patients using multi-gene panel testing.

2018 ◽  
Vol 36 (15_suppl) ◽  
pp. e13610-e13610
Author(s):  
Rodrigo Santa Cruz Guindalini ◽  
Danilo Viana ◽  
João Paulo Kitajima ◽  
Andre Valim ◽  
David Schlesinger ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Gene Panel ◽  
Breast Cancer Patients ◽  
Panel Testing ◽  
Gene Panel Testing ◽  
Inherited Mutations

Multiplex gene‐panel testing for lung cancer patients

2020 ◽  
Vol 70 (12) ◽  
pp. 921-931
Author(s):  
Yasushi Yatabe ◽  
Kuniko Sunami ◽  
Koichi Goto ◽  
Kazuto Nishio ◽  
Naoko Aragane ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Cancer Patients ◽  
Gene Panel ◽  
Lung Cancer Patients ◽  
Panel Testing ◽  
Gene Panel Testing

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.

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
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