scholarly journals Spectrum of germline cancer susceptibility gene mutations in Turkish colorectal cancer patients: a single center study

2020 ◽  
Vol 50 (4) ◽  
pp. 1015-1021
Author(s):  
Haktan Bağış ERDEM ◽  
Taha BAHSİ
Keyword(s):  
Colorectal Cancer ◽  
Cancer Patients ◽  
Cancer Susceptibility ◽  
Susceptibility Gene ◽  
Gene Mutations ◽  
Single Center ◽  
Single Center Study ◽  
Colorectal Cancer Patients ◽  
Cancer Susceptibility Gene ◽  
Center Study

Pulmonary metastasectomy in elderly colorectal cancer patients: a retrospective single center study

2016 ◽  
Vol 68 (4) ◽  
pp. 357-367 ◽  
Author(s):  
Mirko Barone ◽  
Marco Prioletta ◽  
Decio Di Nuzzo ◽  
Giuseppe Cipollone ◽  
Pierpaolo Camplese ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Cancer Patients ◽  
Pulmonary Metastasectomy ◽  
Single Center ◽  
Single Center Study ◽  
Colorectal Cancer Patients ◽  
Center Study

scholarly journals Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer

JAMA Oncology ◽  
2017 ◽  
Vol 3 (4) ◽  
pp. 464 ◽  
Author(s):  
Rachel Pearlman ◽  
Wendy L. Frankel ◽  
Benjamin Swanson ◽  
Weiqiang Zhao ◽  
Ahmet Yilmaz ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Early Onset ◽  
Cancer Susceptibility ◽  
Susceptibility Gene ◽  
Gene Mutations ◽  
Cancer Susceptibility Gene ◽  
Early Onset Colorectal Cancer

scholarly journals Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer

2017 ◽  
Vol 35 (10) ◽  
pp. 1086-1095 ◽  
Author(s):  
Matthew B. Yurgelun ◽  
Matthew H. Kulke ◽  
Charles S. Fuchs ◽  
Brian A. Allen ◽  
Hajime Uno ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Family History ◽  
Cancer Susceptibility ◽  
Susceptibility Gene ◽  
Gene Mutations ◽  
Age At Diagnosis ◽  
Pathogenic Mutations ◽  
High Penetrance ◽  
History Of ◽  
Cancer Susceptibility Gene

Purpose Hereditary factors play an important role in colorectal cancer (CRC) risk, yet the prevalence of germline cancer susceptibility gene mutations in patients with CRC unselected for high-risk features (eg, early age at diagnosis, personal/family history of cancer or polyps, tumor microsatellite instability [MSI], mismatch repair [MMR] deficiency) is unknown. Patients and Methods We recruited 1,058 participants who received CRC care in a clinic-based setting without preselection for age at diagnosis, personal/family history, or MSI/MMR results. All participants underwent germline testing for mutations in 25 genes associated with inherited cancer risk. Each gene was categorized as high penetrance or moderate penetrance on the basis of published estimates of the lifetime cancer risks conferred by pathogenic germline mutations in that gene. Results One hundred five (9.9%; 95% CI, 8.2% to 11.9%) of 1,058 participants carried one or more pathogenic mutations, including 33 (3.1%) with Lynch syndrome (LS). Twenty-eight (96.6%) of 29 available LS CRCs demonstrated abnormal MSI/MMR results. Seventy-four (7.0%) of 1,058 participants carried non-LS gene mutations, including 23 (2.2%) with mutations in high-penetrance genes (five APC, three biallelic MUTYH, 11 BRCA1/2, two PALB2, one CDKN2A, and one TP53), 15 of whom lacked clinical histories suggestive of their underlying mutation. Thirty-eight (3.6%) participants had moderate-penetrance CRC risk gene mutations (19 monoallelic MUTYH, 17 APC*I1307K, two CHEK2). Neither proband age at CRC diagnosis, family history of CRC, nor personal history of other cancers significantly predicted the presence of pathogenic mutations in non-LS genes. Conclusion Germline cancer susceptibility gene mutations are carried by 9.9% of patients with CRC. MSI/MMR testing reliably identifies LS probands, although 7.0% of patients with CRC carry non-LS mutations, including 1.0% with BRCA1/2 mutations.

Prevalence of germline cancer susceptibility gene mutations in a consecutive series of 799 colorectal cancer (CRC) patients (pts).

2016 ◽  
Vol 34 (15_suppl) ◽  
pp. 1501-1501
Author(s):  
Matthew B. Yurgelun ◽  
Brian Allen ◽  
Lauren K. Brais ◽  
Philip G. McNamara ◽  
Chinedu I. Ukaegbu ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Cancer Susceptibility ◽  
Susceptibility Gene ◽  
Gene Mutations ◽  
Consecutive Series ◽  
Cancer Susceptibility Gene
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