scholarly journals Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes

2017 ◽  
Vol 5 (5) ◽  
pp. 553-569 ◽  
Author(s):  
Melissa S. DeRycke ◽  
Shanaka Gunawardena ◽  
Jessica R. Balcom ◽  
Angela M. Pickart ◽  
Lindsey A. Waltman ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Cancer Susceptibility ◽  
Susceptibility Genes ◽  
Targeted Sequencing ◽  
Cancer Susceptibility Genes

Germline pathogenic variant spectrum in 25 cancer susceptibility genes in Turkish breast and colorectal cancer patients and elderly controls

2020 ◽  
Vol 148 (2) ◽  
pp. 285-295
Author(s):  
Izzet Mehmet Akcay ◽  
Elifnaz Celik ◽  
Nihat Bugra Agaoglu ◽  
Gizem Alkurt ◽  
Tugba Kizilboga Akgun ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Cancer Patients ◽  
Cancer Susceptibility ◽  
Susceptibility Genes ◽  
Pathogenic Variant ◽  
Cancer Susceptibility Genes ◽  
Colorectal Cancer Patients

scholarly journals Genome-wide linkage scan for colorectal cancer susceptibility genes supports linkage to chromosome 3q

BMC Cancer ◽  
2008 ◽  
Vol 8 (1) ◽  
Author(s):  
Simone Picelli ◽  
Jana Vandrovcova ◽  
Siân Jones ◽  
Tatjana Djureinovic ◽  
Johanna Skoglund ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Cancer Susceptibility ◽  
Susceptibility Genes ◽  
Cancer Susceptibility Genes ◽  
Genome Wide

Universal germline testing among patients with colorectal cancer: clinical actionability and optimised panel

2021 ◽  
pp. jmedgenet-2020-107230
Author(s):  
Wu Jiang ◽  
Lin Li ◽  
Chuan-Feng Ke ◽  
Wei Wang ◽  
Bin-Yi Xiao ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Hereditary Cancer ◽  
Cancer Susceptibility ◽  
Susceptibility Genes ◽  
Hereditary Cancer Syndromes ◽  
Cancer Susceptibility Genes ◽  
Additional Testing ◽  
Cancer Syndromes ◽  
Germline Testing ◽  
Testing Set

PurposeUniversal germline testing in patients with colorectal cancer (CRC) with a multigene panel can detect various hereditary cancer syndromes. This study was performed to understand how to choose a testing panel and whether the result would affect clinical management.MethodsWe prospectively enrolled 486 eligible patients with CRC, including all patients with CRC diagnosed under age 70 years and patients with CRC diagnosed over 70 years with hereditary risk features between November 2017 and January 2018. All participants received germline testing for various hereditary cancer syndromes.ResultsThe prevalence of germline pathogenic variants (PVs) in cancer susceptibility genes was 7.8% (38/486), including 25 PVs in genes with high-risk CRC susceptibility (the minimal testing set) and 13 PVs in genes with moderate-risk CRC susceptibility or increased cancer risk other than CRC (the additional testing set). All the clinically relevant PVs were found in patients diagnosed under age 70 years. Among them, 11 patients would not have been diagnosed if testing reserved to present guidelines. Most (36/38) of the patients with PVs benefited from enhanced surveillance and tailored treatment. PVs in genes from the minimal testing set were found in all age groups, while patients carried PVs in genes from the additional testing set were older than 40 years.ConclusionUniversal germline testing for cancer susceptibility genes should be recommended among all patients with CRC diagnosed under age 70 years. A broad panel including genes from the additional testing set might be considered for patients with CRC older than 40 years to clarify inheritance risks.Trial registration numberNCT03365986.

scholarly journals A counseling framework for moderate-penetrance colorectal cancer susceptibility genes

2018 ◽  
Vol 20 (11) ◽  
pp. 1324-1327 ◽  
Author(s):  
Bryson W Katona ◽  
Matthew B Yurgelun ◽  
Judy E Garber ◽  
Kenneth Offit ◽  
Susan M Domchek ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Cancer Susceptibility ◽  
Susceptibility Genes ◽  
Cancer Susceptibility Genes

scholarly journals Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes

2016 ◽  
Vol 15 (4) ◽  
pp. 593-599 ◽  
Author(s):  
Sara E. Dobbins ◽  
Peter Broderick ◽  
Daniel Chubb ◽  
Ben Kinnersley ◽  
Amy L. Sherborne ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Cancer Susceptibility ◽  
Susceptibility Genes ◽  
Familial Colorectal Cancer ◽  
Cancer Susceptibility Genes
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