scholarly journals Exome sequencing of a colorectal cancer family reveals shared mutation pattern and predisposition circuitry along tumor pathways

2015 ◽  
Vol 6 ◽  
Author(s):  
Suleiman H. Suleiman ◽  
Mahmoud E. Koko ◽  
Wafaa H. Nasir ◽  
Ommnyiah Elfateh ◽  
Ubai K. Elgizouli ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Exome Sequencing ◽  
Cancer Family ◽  
Mutation Pattern

Development and Preliminary Validation of the Cancer Family Impact Scale for Colorectal Cancer

2008 ◽  
Vol 12 (1) ◽  
pp. 161-169 ◽  
Author(s):  
Pamela S. Sinicrope ◽  
Sally W. Vernon ◽  
Pamela M. Diamond ◽  
Christi A. Patten ◽  
Steven H. Kelder ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Family Impact ◽  
Cancer Family ◽  
Preliminary Validation ◽  
Impact Scale

scholarly journals Exome sequencing reveals frequent inactivating mutations inARID1A, ARID1B, ARID2andARID4Ain microsatellite unstable colorectal cancer

2014 ◽  
Vol 135 (3) ◽  
pp. 611-623 ◽  
Author(s):  
Tatiana Cajuso ◽  
Ulrika A. Hänninen ◽  
Johanna Kondelin ◽  
Alexandra E. Gylfe ◽  
Tomas Tanskanen ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Exome Sequencing ◽  
Inactivating Mutations

scholarly journals Long-term weight loss after colorectal cancer diagnosis is associated with lower survival: The Colon Cancer Family Registry

Cancer ◽  
2017 ◽  
Vol 123 (23) ◽  
pp. 4701-4708 ◽  
Author(s):  
Jonathan M. Kocarnik ◽  
Xinwei Hua ◽  
Sheetal Hardikar ◽  
Jamaica Robinson ◽  
Noralane M. Lindor ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Colon Cancer ◽  
Weight Loss ◽  
Cancer Diagnosis ◽  
Cancer Family ◽  
Lower Survival ◽  
Colon Cancer Family Registry

scholarly journals Receptivity and preferences in cancer risk reduction lifestyle programs: A survey of colorectal cancer family members

2013 ◽  
Vol 2 (4) ◽  
pp. 279 ◽  
Author(s):  
Lisa Howell ◽  
Tabetha Brockman ◽  
Pamela Sinicrope ◽  
Paul Decker ◽  
Shawna Ehlers ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Cancer Risk ◽  
Risk Reduction ◽  
Family Members ◽  
Cancer Family ◽  
Cancer Risk Reduction

Discovery of Aberrant Alteration of Genome in Colorectal Cancer by Exome Sequencing

2019 ◽  
Vol 358 (5) ◽  
pp. 340-349 ◽  
Author(s):  
Yuanzi Liang ◽  
Liejun Jiang ◽  
Xiaogang Zhong ◽  
Steven N. Hochwald ◽  
Yongsi Wang ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Exome Sequencing

scholarly journals Whole exome sequencing analysis of urine trans-renal tumour DNA in metastatic colorectal cancer patients

ESMO Open ◽  
2019 ◽  
Vol 4 (6) ◽  
pp. e000572
Author(s):  
Giovanni Crisafulli ◽  
Benedetta Mussolin ◽  
Andrea Cassingena ◽  
Monica Montone ◽  
Alice Bartolini ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Molecular Weight ◽  
Metastatic Colorectal Cancer ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Genetic Information ◽  
Renal Tumour ◽  
Low Molecular Weight ◽  
Sequencing Analysis ◽  
Whole Exome

BackgroundThe analysis of circulating free tumour DNA (ctDNA) in blood, commonly referred as liquid biopsy, is being used to characterise patients with solid cancers. Tumour-specific genetic variants can also be present in DNA isolated from other body fluids, such as urine. Unlike blood, urine sampling is non-invasive, can be self-performed, and allows recurrent longitudinal monitoring. The features of tumour DNA that clears from the glomerular filtration barrier, named trans-renal tumour DNA (trtDNA), are largely unexplored.Patients and methodsSpecimens were collected from 24 patients with KRAS or BRAF mutant metastatic colorectal cancer (mCRC). Driver mutations were assessed by droplet digital PCR (ddPCR) in ctDNA from plasma and trtDNA from urine. Whole exome sequencing (WES) was performed in DNA isolated from tissue, plasma and urine.ResultsOut of the 24 CRC cases, only four had sufficient DNA to allow WES analyses in urine and plasma. We found that tumour alterations primarily reside in low molecular weight fragments (less than 112 bp). In patients whose trtDNA was more than 2.69% of the urine derived DNA, cancer-specific molecular alterations, mutational signatures and copy number profiles identified in urine DNA are comparable with those detected in plasma ctDNA.ConclusionsWith current technologies, WES analysis of trtDNA is feasible in a small fraction of mCRC patients. Tumour-related genetic information is mainly present in low molecular weight DNA fragments. Although the limited amounts of trtDNA poses analytical challenges, enrichment of low molecular weight DNAs and optimised computational tools can improve the detection of tumour-specific genetic information in urine.

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