An alternative approach to identify women at risk for colorectal cancer.

2012 ◽  
Vol 30 (15_suppl) ◽  
pp. 1513-1513
Author(s):  
Amanda S. Bruegl ◽  
Bojana Djordjevic ◽  
Shannon Neville Westin ◽  
Pamela T. Soliman ◽  
Amanda C. Brandt ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Family History ◽  
Mismatch Repair ◽  
Dna Mismatch Repair ◽  
Gynecologic Oncology ◽  
Positive Family History ◽  
Dna Mismatch ◽  
Increased Risk ◽  
History Of ◽  
Mlh1 Methylation

1513 Background: Hereditary colorectal cancer (CRC) is preventable; however, identification of individuals at sufficiently high risk to warrant heightened surveillance is difficult. Lynch Syndrome (LS) is an inherited cancer syndrome due to germline mutation in a DNA mismatch repair gene. For women with LS, the lifetime risk of endometrial cancer (EC) is 64% and CRC is 54%. Fifty percent of women with LS will present with EC or ovarian cancer prior to CRC. Therefore, women with LS associated EC represent an ideal group for CRC prevention. The optimal method to identify women with LS associated EC is not known. The purpose of this study was to determine the utility of Amsterdam II and Society of Gynecologic Oncology (SGO) Criteria (modified Bethesda criteria that use EC as the sentinel cancer) in identifying women with LS associated EC. Our ultimate goal is to identify women at increased risk of CRC. Methods: Immunohistochemistry (IHC) for DNA mismatch repair proteins and MLH1 methylation analyses were used to identify LS associated EC among 388 women. EC was designated as LS if there was loss of mismatch repair protein expression. Absence of MLH1 methylation was required to confirm LS in tumors with MLH1 protein loss. Results: Fifty-nine (15.2%) of the EC patients tested had LS. These patients are summarized in the table. Conclusions: Clinical criteria to detect LS identify 17/59 (29%) - 44/59 (74%) of women who present with EC first. EC with MSH2 loss is most likely to occur in younger women and women with positive family history of EC and CRC, features classically associated with LS. In general, the MSH6 mutation is associated with older age at diagnosis and fewer familial CRCs, however, we found a large number of MLH1 (50%) and PMS2 (86%) cases diagnosed at greater than 50 years with no family history of CRC. Our data suggest that classic clinical screening criteria are inadequate to detect patients with LS who present with EC, potentially missing up to 25% of these patients. [Table: see text]

scholarly journals Use of nivolumab for colon cancer with Lynch syndrome

2020 ◽  
Vol 22 (3) ◽  
pp. 114-119
Author(s):  
G. A. Khakimov ◽  
A. A. Tryakin ◽  
G. G. Khakimova
Keyword(s):  
Colorectal Cancer ◽  
Lynch Syndrome ◽  
Mismatch Repair ◽  
Dna Mismatch Repair ◽  
Checkpoint Inhibitors ◽  
Survival Rates ◽  
Stage Iv ◽  
Sporadic Colorectal Cancer ◽  
Dna Mismatch ◽  
Increased Risk

Lynch syndrome (LS), which occurs as a result of the defects in DNA mismatch repair, is characterized by an increased risk of colon, endometrial and urinary tract cancers. It is known that in case of colorectal cancer, the presence of high-frequency microsatellite instability (MSI-H) is associated with better survival rates, independent of other prognostic factors, including the stage of tumor development. Thus, in stage II sporadic colorectal cancer, MSI-H occurs in 22% of cases, in stage III in 12% of cases, and in stage IV only in 2% of cases. Regardless of the type of the tumor, immunotherapy using checkpoint inhibitors has been approved for treating patients with unresectable or metastatic tumors with deficient DNA mismatch repair (dMMR), this fact can be used as an approach to treatment patients with LS. The article describes the clinical observation of the patient with germline mutation in MLH1 gene, suffering from multiple primary malignancies of the colon, who has been receiving nivolumab for 26 months. This observation demonstrates the success of immunotherapy after sixth-line chemotherapy, showing the potential control of tumor growth in patients with LS.

scholarly journals Association of Androgenetic Alopecia with Benign Prostatic Hyperplasia: A Case Control Study

2018 ◽  
Vol 16 (1) ◽  
pp. 17-23
Author(s):  
Manoj Kumar Chaudhary ◽  
Sudha Agrawal ◽  
Chandra Shekhar Agrawal
Keyword(s):  
Benign Prostatic Hyperplasia ◽  
Family History ◽  
Early Onset ◽  
Positive Family History ◽  
Prostatic Hyperplasia ◽  
Androgenetic Alopecia ◽  
Pelvic Ultrasonography ◽  
Increased Risk ◽  
History Of ◽  
Common Pathogenesis

Introduction: Androgenetic alopecia (AGA) is associated with increased risk of several systemic diseases and some environmental factors, however, controversies exist. Since AGA and Benign Prostatic Hyperplasia (BPH) share common pathogenesis and AGA manifests some decades before BPH onset, it may serve as an early marker of BPH.Objective: This study was conducted to know AGA and its association with BPH in men ≥20 years of age.Materials and Methods: Clinically diagnosed cases of AGA (n=176) and 117 age matched healthy controls were enrolled. All cases and controls were subjected for abdomino-pelvic ultrasonography, urinary flowmetry, fasting lipid profiles, glycemic index and body mass index. International Prostate Symptom Score (IPSS) was also assessed.Results: Among 176 patients, 120 (68.18%) had Hamilton-Norwood grade III AGA and 56 (31.82%) had grade IV-VII AGA. In both groups, 140 (79.55%) cases and 93 (79.49%) controls were aged <35 years respectively. Family history of AGA was present in 108 (61.36%) cases and 2 (1.71%) controls. This observation was statistically significant with OR= 89.61 (95%CI 23.67-339.29). Three (1.7%) cases and none of the controls had prostate volume >30ml. Seventeen(9.66%) cases and 4 (3.42%) controls were graded as moderately/severely symptomatic IPSS. Statistically significant association was seen between family history and early onset of hair loss (<35 years) in a male sibling or parent.Conclusion: Although positive family history was associated with early onset of AGA, no association between AGA and BPH could be elicited in our study.

scholarly journals Screeners vs. Non-screeners for Colorectal Cancer among People over 50 Years of Age: Factual and Psychological Discriminants

2020 ◽  
Author(s):  
Andrada Ciucă ◽  
Ramona Moldovan ◽  
Sebastian Pintea ◽  
Dan Dumitrașcu ◽  
Adriana Băban
Keyword(s):  
Colorectal Cancer ◽  
Family History ◽  
Positive Family History ◽  
Psychosocial Interventions ◽  
The Elderly ◽  
Roc Curve Analysis ◽  
Convenience Sample ◽  
Colonoscopy Screening ◽  
History Of ◽  
D Values

Background and Aims: Colorectal cancer (CRC) is the third most frequent form of cancer worldwide, and approximately one third of cases have a positive family history of CRC or associated cancers. Colonoscopy is one of the most effective methods of screening for CRC. Uptake of colonoscopy is suboptimal, and many countries lack a national screening programme. Our study aims at exploring and ranking several factual and psychological variables according to their accuracy in discriminating between screeners and non-screeners for CRC in a convenience sample of people over 50 years of age. Methods: The study included 103 individuals aged over 50 years, recruited from day centres for the elderly. We explored socio-demographic variables, frequency of colonoscopy, previous recommendations for screening, health literacy and family history of cancer. Receiver operating characteristic (ROC) analysis was used to establish the discriminative value for each variable between the positive and negative decision for colonoscopy screening. Areas under the curve (AUC) and their equivalent Cohen‘s d values were calculated. Results: Almost a quarter (25.75%) of participants reported previous colonoscopy screening. ROC curve analysis shows that colonoscopy uptake is best discriminated by perceived benefits of screening (AUC=0.71, d=0.78, p<0.001), previous recommendations for screening (AUC=0.68, d=0.69, p<0.001) and previous recommendations for preventive measures (AUC=0.67, d=0.64, p<0.001). Conclusions: Recommendations from healthcare professionals lead to improved colonoscopy uptake when emphasising the benefits of screening. Results can further inform psychosocial interventions by bringing empirical evidence to emphasize screening benefits and explicit recommendations for individuals at risk for CRC cancer.

scholarly journals Lack of DNA mismatch repair protein MSH6 in the rat results in hereditary non-polyposis colorectal cancer-like tumorigenesis

2008 ◽  
Vol 29 (6) ◽  
pp. 1290-1297 ◽  
Author(s):  
Ruben van Boxtel ◽  
Pim W. Toonen ◽  
Henk S. van Roekel ◽  
Mark Verheul ◽  
Bart M. G. Smits ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Mismatch Repair ◽  
Dna Mismatch Repair ◽  
Dna Mismatch ◽  
Repair Protein ◽  
Mismatch Repair Protein

scholarly journals microRNA-148a-3p regulates immunosuppression in DNA mismatch repair-deficient colorectal cancer by targeting PD-L1

2019 ◽  
pp. molcanres.0831.2018 ◽  
Author(s):  
Mai Ashizawa ◽  
Hirokazu Okayama ◽  
Teruhide Ishigame ◽  
Aung Kyi Thar Min ◽  
Katsuharu Saito ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Mismatch Repair ◽  
Dna Mismatch Repair ◽  
Dna Mismatch
Sign in / Sign up

Export Citation Format

Share Document