Polyposis Syndromes

2020 ◽  
Author(s):  
Katherine A Kelley ◽  
Daniel O Herzig
Keyword(s):  
Colorectal Cancer ◽  
Family History ◽  
Cancer Risk ◽  
Future Research ◽  
Molecular Characteristics ◽  
Inherited Disorders ◽  
Polyposis Syndrome ◽  
Screening Guidelines ◽  
Increased Risk ◽  
Polyposis Syndromes

Colorectal cancer (CRC) is the third most common type of cancer and the second leading cause of cancer death in men and women. Although about one third of cancers arise in patients with a family history of CRC, only 5% arise in the setting of mendelian-inherited disorders. Patients without a family history but with a significant polyp burden (> 20 polyps) should be considered to have polyposis syndrome. The field of polyposis syndromes continues to advance, based on new genetic discoveries that define the genetic etiologies of polyposis syndromes. When considered in relation to an individual’s phenotype, these discoveries help guide screening and treatment based on the cancer risk created by specific mutations. Patients with polyposis syndromes carry an increased risk of CRC and some other extracolonic cancers. Future research will provide additional insight into the cause of polyposis syndromes without a currently detectable gene defect and will improve early identification and cancer prevention in affected individuals. Identification of additional molecular characteristics may lead to a more personalized approach to treatment for these individuals. This review contains 7 figures, 11 tables and 52 references. Key words: attenuated familial polyposis, colorectal cancer risk, familial adenomatous polyposis, hamartomatous polyposis syndrome, juvenile polyposis syndrome, MUTYH-associated polyposis, Peutz-Jeghers syndrome, polyposis syndromes, screening guidelines, serrated polyposis syndrome  

Polyposis Syndromes

2020 ◽  
Author(s):  
Katherine A Kelley ◽  
Daniel O Herzig
Keyword(s):  
Colorectal Cancer ◽  
Family History ◽  
Cancer Risk ◽  
Future Research ◽  
Molecular Characteristics ◽  
Inherited Disorders ◽  
Polyposis Syndrome ◽  
Screening Guidelines ◽  
Increased Risk ◽  
Polyposis Syndromes

Colorectal cancer (CRC) is the third most common type of cancer and the second leading cause of cancer death in men and women. Although about one third of cancers arise in patients with a family history of CRC, only 5% arise in the setting of mendelian-inherited disorders. Patients without a family history but with a significant polyp burden (> 20 polyps) should be considered to have polyposis syndrome. The field of polyposis syndromes continues to advance, based on new genetic discoveries that define the genetic etiologies of polyposis syndromes. When considered in relation to an individual’s phenotype, these discoveries help guide screening and treatment based on the cancer risk created by specific mutations. Patients with polyposis syndromes carry an increased risk of CRC and some other extracolonic cancers. Future research will provide additional insight into the cause of polyposis syndromes without a currently detectable gene defect and will improve early identification and cancer prevention in affected individuals. Identification of additional molecular characteristics may lead to a more personalized approach to treatment for these individuals. This review contains 7 figures, 11 tables and 52 references. Key words: attenuated familial polyposis, colorectal cancer risk, familial adenomatous polyposis, hamartomatous polyposis syndrome, juvenile polyposis syndrome, MUTYH-associated polyposis, Peutz-Jeghers syndrome, polyposis syndromes, screening guidelines, serrated polyposis syndrome  

Are current family-history based colorectal cancer screening guidelines adequate for early detection and potential prevention of young-onset cases?

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. 3549-3549
Author(s):  
Y. Nancy You ◽  
Miguel A. Rodriguez-Bigas ◽  
George J. Chang ◽  
Brian K. Bednarski ◽  
John Michael Skibber ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Family History ◽  
Distal Colon ◽  
Average Risk ◽  
Risk Screening ◽  
Young Onset ◽  
Screening Guidelines ◽  
Increased Risk ◽  
Age Of Diagnosis ◽  
High Risk Screening

3549 Background: Strategies to detect and prevent young-onset colorectal cancer (YOCRC, diagnosed under age 50) are critical. Established high-risk screening guidelines (SGs) aim to detect/prevent YOCRCs arising from hereditary syndromes. For non-hereditary YOCRCs, average-risk screening is being considered at an earlier age, but family history (FH)-based increased-risk screening has been poorly studied. We aimed to define the proportion of non-hereditary YOCRC with a FH, and to determine whether existing SGs could have detected/prevented these cases. Methods: 394 consecutive YOCRC patients presenting for surgical resection were reviewed for tumor MMR status, pedigree and genetic testing. Those with known/suspected hereditary syndrome (by phenotype, MMR status, and/or germline mutation) were excluded (N = 65). Pedigrees (N = 329) were analyzed for first- or second-degree relatives (FDR, SDR) with CRC and the ages of diagnosis. The gap between the recommended age for FH-based CRC screening and the age of YOCRC diagnosis was calculated. Results: 89 (27%) non-hereditary YOCRC patients had a FH of CRC. The median age of diagnosis was 45; the tumors were mostly from the distal colon (22%) and rectum (60%), and stage III (48%) and IV (27%). Twenty-one (24%) patients had 22 FDRs with CRCs diagnosed at age 64 (median); and 71 (80%) patients had 92 SDRs with CRCs diagnosed at age 65 (median). Thirteen (15%) had a FH of YOCRC. The existing SGs consider 39 patients (44%) at increased-risk, and the remaining, average-risk (Table). Screening would have begun prior to the YOCRC diagnoses in 28 (31% [or 46, 52%]) patients. But YOCRC diagnosis preceded the recommended screening age in the remaining 61(69% [or 43, 48%]) patients by a median of 5.3 [or 3.9] years (Table). Conclusions: FH is found in 27% of the non-hereditary YOCRC patients; 15% has a FH of YOCRC. In nearly half of the patients, YOCRC was diagnosed several years earlier than the recommended age for FH-based screening, even assuming perfect SG adoption and starting average risk screening at age 45. Refining existing FH-based SGs can potentially be impactful.[Table: see text]

scholarly journals Clinical, Pathological and Molecular Characteristics of Chilean Patients with Early-, Intermediate- and Late-Onset Colorectal Cancer

Cells ◽  
2021 ◽  
Vol 10 (3) ◽  
pp. 631
Author(s):  
Karin Alvarez ◽  
Alessandra Cassana ◽  
Marjorie De La Fuente ◽  
Tamara Canales ◽  
Mario Abedrapo ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Family History ◽  
Age Of Onset ◽  
Late Onset ◽  
Molecular Characteristics ◽  
Family History Of Cancer ◽  
Molecular Features ◽  
Age Of Diagnosis ◽  
History Of ◽  
History Of Cancer

Colorectal cancer (CRC) is the second most frequent neoplasm in Chile and its mortality rate is rising in all ages. However, studies characterizing CRC according to the age of onset are still lacking. This study aimed to identify clinical, pathological, and molecular features of CRC in Chilean patients according to the age of diagnosis: early- (≤50 years; EOCRC), intermediate- (51–69 years; IOCRC), and late-onset (≥70 years; LOCRC). The study included 426 CRC patients from Clinica Las Condes, between 2007 and 2019. A chi-square test was applied to explore associations between age of onset and clinicopathological characteristics. Body Mass Index (BMI) differences according to age of diagnosis was evaluated through t-test. Overall (OS) and cancer-specific survival (CSS) were estimated by the Kaplan–Meier method. We found significant differences between the age of onset, and gender, BMI, family history of cancer, TNM Classification of Malignant Tumors stage, OS, and CSS. EOCRC category was characterized by a family history of cancer, left-sided tumors with a more advanced stage of the disease but better survival at 10 years, and lower microsatellite instability (MSI), with predominant germline mutations. IOCRC has shown clinical similarities with the EOCRC and molecular similarities to the LOCRC, which agrees with other reports.

scholarly journals Screening participation for people at increased risk of colorectal cancer due to family history: a systematic review and meta-analysis

2013 ◽  
Vol 12 (3) ◽  
pp. 459-472 ◽  
Author(s):  
Driss Ait Ouakrim ◽  
Trevor Lockett ◽  
Alex Boussioutas ◽  
John L. Hopper ◽  
Mark A. Jenkins
Keyword(s):  
Colorectal Cancer ◽  
Systematic Review ◽  
Family History ◽  
Meta Analysis ◽  
Screening Participation ◽  
Increased Risk

scholarly journals The CRISP-P study: feasibility of a self-completed colorectal cancer risk prediction tool in primary care

2019 ◽  
Vol 36 (6) ◽  
pp. 730-735 ◽  
Author(s):  
Elena C Harty ◽  
Jennifer G McIntosh ◽  
Adrian Bickerstaffe ◽  
Nadira Hewabandu ◽  
Jon D Emery
Keyword(s):  
Colorectal Cancer ◽  
Primary Care ◽  
Second Language ◽  
Cancer Risk ◽  
Risk Prediction ◽  
Tertiary Education ◽  
Colorectal Cancer Risk ◽  
Prediction Tool ◽  
Recruitment Methods ◽  
Increased Risk

Abstract Objective Australia and New Zealand have the highest incidence of colorectal cancer (CRC) globally. Our research team has developed a CRC risk prediction tool for use in primary care to increase targeted screening. This study, Colorectal cancer RISk Prediction tool – patient (‘CRISP-P’), aimed to determine the following to inform a future trial design: (i) the feasibility of self-reporting; (ii) the feasibility of recruitment methods; and (iii) the prevalence of CRC risk. Methods Participants aged between 40 and 75 years were recruited consecutively from three primary care waiting rooms. Participants input data into CRISP on a tablet without receiving clinical advice. Feasibility was evaluated using recruitment rate, timely completion, a self-reported ‘ease-of-use’, score and field notes. Prevalence of CRC risk was calculated using the CRISP model. Results Five hundred sixty-one (90%) patients agreed to use the tool and 424 (84%) rated the tool easy to use. Despite this, 41% of people were unable to complete the questions without assistance. Patients who were older, without tertiary education or with English as their second language were more likely to require assistance (P < 0.001). Thirty-nine percent of patients were low risk, 58% at slightly increased and 2.4% were at moderately increased risk of developing colorectal cancer in the next 5 years. Conclusions The tool was perceived as easy to use, although older, less educated people, and patients with English as their second language needed help. The data support the recruitment methods but not the use of a self-completed tool for an efficacy trial.

scholarly journals Potential impact of family history–based screening guidelines on the detection of early‐onset colorectal cancer

Cancer ◽  
2020 ◽  
Vol 126 (13) ◽  
pp. 3013-3020 ◽  
Author(s):  
Samir Gupta ◽  
Balambal Bharti ◽  
Dennis J. Ahnen ◽  
Daniel D. Buchanan ◽  
Iona C. Cheng ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Family History ◽  
Early Onset ◽  
Screening Guidelines ◽  
Potential Impact ◽  
Early Onset Colorectal Cancer

scholarly journals Colorectal cancer risk based on extended family history and body mass index

2020 ◽  
Vol 44 (7) ◽  
pp. 778-784 ◽  
Author(s):  
Heather M. Ochs‐Balcom ◽  
Priyanka Kanth ◽  
James M. Farnham ◽  
Samir Abdelrahman ◽  
Lisa A. Cannon‐Albright
Keyword(s):  
Colorectal Cancer ◽  
Body Mass Index ◽  
Family History ◽  
Cancer Risk ◽  
Body Mass ◽  
Extended Family ◽  
Colorectal Cancer Risk

scholarly journals Dietary Polyamines Intake and Risk of Colorectal Cancer: A Case-Control Study

Nutrients ◽  
2020 ◽  
Vol 12 (11) ◽  
pp. 3575
Author(s):  
Chu-Yi Huang ◽  
Yu-Jing Fang ◽  
Alinuer Abulimiti ◽  
Xia Yang ◽  
Lei Li ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Cancer Risk ◽  
Case Control Study ◽  
Colorectal Cancer Risk ◽  
Unconditional Logistic Regression ◽  
Cell Proliferation And Differentiation ◽  
Increased Risk ◽  
Proliferation And Differentiation ◽  
Dietary Polyamines ◽  
Control Study

Polyamines (including putrescine, spermidine, and spermine) are small, cationic molecules that are necessary for cell proliferation and differentiation. Few studies have examined the association of dietary polyamines intake with colorectal cancer risk. The aim of this study was to evaluate total polyamines, putrescine, spermidine, and spermine intake in relation to colorectal cancer risk in China. In total, 2502 colorectal cancer cases and 2538 age-(5-year interval) and sex-matched controls were recruited from July 2010 to April 2019. Odds ratios (ORs) and 95% confidence intervals (CI) were calculated by multivariable unconditional logistic regression after adjustment for various potential confounding factors. Higher intake of total polyamine, putrescine and spermidine was significantly associated with reduced risk of colorectal cancer. The adjusted ORs for the highest compared with the lowest quartile of intake were 0.60 (95% CI 0.50, 0.72; Ptrend < 0.001) for total polyamines, 0.35 (95% CI 0.29, 0.43; Ptrend < 0.001) for putrescine and 0.79 (95% CI 0.66, 0.95; Ptrend = 0.001) for spermidine, respectively. However, higher intake of spermine was associated with increased risk of colorectal cancer, with an adjusted OR of 1.58 (95% CI 1.29, 1.93; Ptrend < 0.001). This data indicate that higher intake of total polyamines, putrescine and spermidine, as well as lower intake of spermine, is associated with a decreased risk of colorectal cancer.

scholarly journals Strongly enhanced colorectal cancer risk stratification by combining family history and genetic risk score

2018 ◽  
Vol Volume 10 ◽  
pp. 143-152 ◽  
Author(s):  
Korbinian Weigl ◽  
Jenny Chang-Claude ◽  
Phillip Knebel ◽  
Li Hsu ◽  
Michael Hoffmeister ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Family History ◽  
Cancer Risk ◽  
Risk Stratification ◽  
Risk Score ◽  
Genetic Risk ◽  
Genetic Risk Score ◽  
Colorectal Cancer Risk
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