I1307K Adenomatous Polyposis coli gene mutation in colorectal cancer patients with a family history or early onset of colorectal cancer attending a family cancer clinic in London

1998 ◽  
Vol 114 ◽  
pp. A586
Author(s):  
I Dove-Edwin ◽  
I Frayling ◽  
HJW Thomas
Keyword(s):  
Colorectal Cancer ◽  
Family History ◽  
Cancer Patients ◽  
Gene Mutation ◽  
Early Onset ◽  
Adenomatous Polyposis Coli Gene ◽  
Adenomatous Polyposis ◽  
Polyposis Coli ◽  
Colorectal Cancer Patients ◽  
Cancer Clinic

Use of Molecular Tumor Characteristics to Prioritize Mismatch Repair Gene Testing in Early-Onset Colorectal Cancer

2005 ◽  
Vol 23 (27) ◽  
pp. 6524-6532 ◽  
Author(s):  
Melissa C. Southey ◽  
Mark A. Jenkins ◽  
Leeanne Mead ◽  
Jonathan Whitty ◽  
Melanie Trivett ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Family History ◽  
Protein Expression ◽  
Cancer Patients ◽  
Gene Mutation ◽  
Early Onset ◽  
Amsterdam Criteria ◽  
Colorectal Cancer Patients ◽  
Early Onset Colorectal Cancer ◽  
Mmr Proteins

Purpose The relationships between mismatch repair (MMR) protein expression, microsatellite instability (MSI), family history, and germline MMR gene mutation status have not been studied on a population basis. Methods We studied 131 unselected patients with colorectal cancer diagnosed younger than age 45 years. For the 105 available tumors, MLH1, MSH2, MSH6, and PMS2 protein expression using immunohistochemistry (IHC) and MSI were measured. Germline DNA was screened for hMLH1, hMSH2, hMSH6, and hPMS2 mutations for the following patients: all from families fulfilling the Amsterdam Criteria for hereditary nonpolyposis colorectal cancer (HNPCC); all with tumors that were high MSI, low MSI, or that lacked expression of any MMR protein; and a random sample of 23 with MS-stable tumors expressing all MMR proteins. Results Germline mutations were found in 18 patients (nine hMLH1, four hMSH2, four hMSH6, and one hPMS2); all tumors exhibited loss of MMR protein expression, all but one were high MSI or low MSI, and nine were from a family fulfilling Amsterdam Criteria. Sensitivities of IHC testing, MSI (high or low), and Amsterdam Criteria for MMR gene mutation were 100%, 94%, and 50%, respectively. Corresponding positive predictive values were 69%, 50%, and 75%. Conclusions Tumor IHC analysis of four MMR proteins and MSI testing provide a highly sensitive strategy for identifying MMR gene mutation–carrying, early-onset colorectal cancer patients, half of whom would have been missed using Amsterdam Criteria alone. Tumor-based approaches for triaging early-onset colorectal cancer patients for MMR gene mutation testing, irrespective of family history, appear to be an efficient screening strategy for HNPCC.

β-Catenin and adenomatous polyposis coli (APC) mutations in adenomas from hereditary non-polyposis colorectal cancer patients

2000 ◽  
Vol 157 (2) ◽  
pp. 185-191 ◽  
Author(s):  
Yoshimitsu Akiyama ◽  
Hiromi Nagasaki ◽  
Kenji Osmar Yagi ◽  
Tadashi Nomizu ◽  
Yasuhito Yuasa
Keyword(s):  
Colorectal Cancer ◽  
Cancer Patients ◽  
Adenomatous Polyposis Coli ◽  
Adenomatous Polyposis ◽  
Polyposis Coli ◽  
Apc Mutations ◽  
Colorectal Cancer Patients

Expression and Mutation Pattern of β-Catenin and Adenomatous Polyposis Coli in Colorectal Cancer Patients

2015 ◽  
Vol 46 (1) ◽  
pp. 54-62 ◽  
Author(s):  
Rania Abdelmaksoud-Damak ◽  
Imen Miladi-Abdennadher ◽  
Mouna Triki ◽  
Abdelmajid Khabir ◽  
Slim Charfi ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Cancer Patients ◽  
Adenomatous Polyposis Coli ◽  
Adenomatous Polyposis ◽  
Polyposis Coli ◽  
Mutation Pattern ◽  
Colorectal Cancer Patients

scholarly journals Discovery of a novel and a rare Kristen rat sarcoma viral oncogene homolog (KRAS) gene mutation in colorectal cancer patients

Bioengineered ◽  
2021 ◽  
Vol 12 (1) ◽  
pp. 5099-5109
Author(s):  
Mahmood Rasool ◽  
Angel Carracedo ◽  
Abdulrahman Sibiany ◽  
Faten Al-Sayes ◽  
Sajjad Karim ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Cancer Patients ◽  
Gene Mutation ◽  
Kras Gene ◽  
Viral Oncogene ◽  
Colorectal Cancer Patients ◽  
Viral Oncogene Homolog

scholarly journals Regulation of deoxycholate induction of CXCL8 by the adenomatous polyposis coli gene in colorectal cancer

2009 ◽  
Vol 124 (10) ◽  
pp. 2270-2280 ◽  
Author(s):  
Nathaniel S. Rial ◽  
Gwendal Lazennec ◽  
Anil R. Prasad ◽  
Robert S. Krouse ◽  
Peter Lance ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Adenomatous Polyposis Coli ◽  
Adenomatous Polyposis Coli Gene ◽  
Adenomatous Polyposis ◽  
Polyposis Coli

Multivariate analysis of factors affecting overall survival in minority-based population of young colorectal cancer patients: A single-institution experience.

2012 ◽  
Vol 30 (15_suppl) ◽  
pp. e14186-e14186
Author(s):  
Shivi Jain ◽  
Kireet Agrawal ◽  
Shinoj Pattali ◽  
Abhijai Singh ◽  
Kamal Agrawal ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Overall Survival ◽  
Multivariate Analysis ◽  
Family History ◽  
Cancer Patients ◽  
Stage Iv ◽  
Female Ratio ◽  
Stage Iv Colorectal Cancer ◽  
Significant Difference ◽  
Colorectal Cancer Patients

e14186 Background: Overall survival in colorectal cancer is influenced by obesity, age, gender and stage at diagnosis. However, in minority based populations, effect of the above factors on overall survival has not been studied in any detail. Hence, we undertook this retrospective study to evaluate effect of above factors on overall survival in young colorectal cancer patients. Methods: 1,195 subjects with colorectal cancer treated at John H. Stroger Hospital of Cook County between 2000 and 2008 were retrospectively analyzed. 179 subjects with age 50 years and younger were identified. 146 of 179 subjects with available Body Mass Index (BMI) in kg/m2 were included in the study. Effect of BMI, age, sex, race, LDH and CEA levels, stage, site of tumor, smoking and family history on overall survival was evaluated using standard statistical multivariate analysis. Results: In our population, 22 of 146(15%) were underweight (BMI<20), 56 of 146(38.4%) were normal weight (BMI 20-24.9), 46 of 146(31.5%) were overweight (BMI 25-29.9) and 22 of 146(15%) were obese (BMI >30). Male: female ratio was 1.4:1. 75 of 146(51.7%) were African American, 23 of 146(15.9%) were Caucasians. 50 of 146(34.2%) were stage IV colorectal cancer at diagnosis. On univariate analysis, BMI<20(p=0.031, HR 2.1, 95% CI 1.15-3.82), CEA >4ng/ml (p=0.005, HR 1.93, 95% CI 1.21-3.08) and stage IV colorectal cancer (p<0.001, HR 6.1, 95% CI 2.42-15.53) were significantly associated with decreased overall survival. LDH<200 U/L was significantly associated with improved overall survival (p 0.029, HR 0.6, 95% CI 0.391-0.950). On multivariate analysis, stage IV colorectal cancer was a single significant independent predictor of overall survival (p=0.001, 95% CI 2.47-27.78). CEA>4ng/ml was marginally significant for decreased overall survival (p=0.06, 95% CI 0.978-3.015). On the contrary, no statistically significant difference was found on overall survival with age, BMI>20, gender, race, tumor location, smoking and family history. Conclusions: Advanced stage and CEA >4ng/ml are independent prognostic variables for decreased overall survival in minority based population of young colorectal cancer.

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