913 An Audit of Colonoscopy Compliance Within A Screening Programme for Patients with A Family History of Colorectal Cancer (CRC)

2021 ◽  
Vol 108 (Supplement_2) ◽  
Author(s):  
M Abbakar ◽  
P Boxall ◽  
T James ◽  
M Lim
Keyword(s):  
Family History ◽  
Lynch Syndrome ◽  
Screening Programme ◽  
Electronic Records ◽  
Risk Category ◽  
Surveillance Programme ◽  
Clinical Notes ◽  
History Of ◽  
Colonoscopy Surveillance ◽  
Risk Categories

Abstract Introduction Guidelines on the management of hereditary CRC were updated in 2019 and have led to more stringent use of surveillance colonoscopies. Patients with ‘family history’ (FH) CRC Surveillance programme at York Hospitals Trust were studied to assess compliance with colonoscopy recommendations. Method Current BSG/ACPGBI guidelines recommend biennial, quinquennial, one-off or no colonoscopy surveillance for patients with Lynch syndrome, and those deemed to have high, moderate, and average risks of developing hereditary cancer, respectively. Examination of electronic records and clinical notes were performed to determine if they were Lynch positive and/or if they could be assigned a risk category. Results Database of 227 patients, of which 14 were high, 61 moderate and 45 were low risk. 47 had Lynch syndrome. Compliance of colonoscopy was poor for patients with average and moderate FH risk (both 0%). Compliance was higher for patients with high risk of FH (50%) and those with Lynch syndrome (57%) Risk was indeterminate in 24 patients due to inadequate data therefore compliance could not be assessed. Conclusions A large proportion of patients with low to moderate ‘FH’ risk within our current surveillance programme had unnecessary colonoscopies. Stratification of patients into the appropriate risk categories optimizes the benefit from surveillance programmes.

scholarly journals Evaluation of a surveillance programme for women with a family history of breast cancer

2009 ◽  
Vol 46 (5) ◽  
pp. 319-323 ◽  
Author(s):  
M M Reis ◽  
M Tavakoli ◽  
J Dewar ◽  
D Goudie ◽  
A Cook ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
Surveillance Programme ◽  
History Of

scholarly journals 22-year longitudinal study of repetitive colonoscopy in patients with a family history of colorectal cancer

2013 ◽  
Vol 95 (8) ◽  
pp. 586-590 ◽  
Author(s):  
JK Randall ◽  
CS Good ◽  
JM Gilbert
Keyword(s):  
Colorectal Cancer ◽  
Family History ◽  
British Society ◽  
Degree Relative ◽  
Surveillance Programme ◽  
Patients With Cancer ◽  
Significant Pathology ◽  
History Of

Introduction We report the outcomes of a long-term surveillance programme for individuals with a family history of colorectal cancer. Methods The details of patients undergoing a colonoscopy having been referred on the basis of family history of colorectal cancer were entered prospectively into a database. Further colonoscopy was arranged on the basis of the findings. The outcomes assessed included incidence of cancer and adenoma identification at initial and subsequent colonoscopy. Results The records of 2,293 patients (917 men; median patient age: 51 years) were entered over 22 years, giving data on 3,982 colonoscopies. Eight adverse events (0.2%) were recorded. Twenty-seven cancers were found at first colonoscopy and thirteen developed during the follow-up period. There were significantly more cancers identified in those with more than one first-degree relative with cancer than in other groups (p=0.01). The number of adenomas identified at subsequent surveillance colonoscopies remained constant with between 9.3% and 12.0% of patients having adenomas that were removed. Two-thirds (68%) of patients with cancer and three-quarters (77%) with adenomas fell outside the British Society of Gastroenterology (BSG) 2006 guidelines. Conclusions Repeated colonoscopy continues to yield significant pathology including new cancers. These continue to occur despite removal of adenomas at prior colonoscopies. The majority of patients with cancers and adenomas fell outside the BSG 2006 guidelines; more would have fallen outside the 2010 guidelines.

scholarly journals Prevalence and Family History Characteristics of Type 1 Diabetes Mellitus in Children and Adolescents: A Nigerian Tertiary-Healthcare Based Study

2020 ◽  
Vol 24 (1) ◽  
Author(s):  
Elizabeth Eberechi Oyenusi ◽  
Alphonsus Ndidi Onyiriuka ◽  
Yahaya Saidu Alkali
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
Family History ◽  
Children And Adolescents ◽  
Positive Family History ◽  
Risk Category ◽  
Family History Of Diabetes ◽  
Tertiary Healthcare ◽  
History Of

Background: Family history of diabetes mellitus is a useful tool for detecting children and adolescents at risk of the disease. The aim of this study is to determine the prevalence and describe the characteristics of family history of diabetes mellitus in Nigerian children and adolescents with type 1 diabetes. Methods: A retrospective chart review of children and adolescents newly diagnosed with type 1 diabetes was conducted in three tertiary-healthcare institutions in Nigeria. In addition to the review of charts of old patients, other children and adolescents who presented with new-onset diabetes during  the review process were also included. An interviewer-administered questionnaire was used in obtaining information from the patients and their parents. Using the criteria suggested by Scheuner et al, the family history risk category was stratified into average, moderate and high. Results: Out of a total of 65 children and adolescents with type 1 diabetes, 29(44.6%, 95% CI= 32.6-56.7) had a positive family history of diabetes mellitus. Of the affected family members, 42.9% were first-degree relatives. The frequencies of family history risk category were average 65.5%, moderate 27.6% and high 6.9%. Among the affected family members in whom information on their diabetes status was available, 19(86.4%) had type 2 diabetes and only 3(13.6%) had type 1 diabetes. Conclusion: Four out of every ten patients with type 1 diabetes in the paediatric age group, have a first- degree relative with a positive family history of diabetes.

First results of universal screening for Lynch syndrome in a Mexican cohort of colorectal cancer patients.

2018 ◽  
Vol 36 (4_suppl) ◽  
pp. 590-590
Author(s):  
Zuleyma Nieto ◽  
Ana Karen Valenzuela ◽  
Fidel David Huitzil Melendez ◽  
Mónica Isabel Meneses Medina ◽  
Armando Gamboa Dominguez ◽  
...  
Keyword(s):  
Family History ◽  
Lynch Syndrome ◽  
Mismatch Repair ◽  
Braf Mutation ◽  
Universal Screening ◽  
Clinical Suspicion ◽  
Clinical Genetics ◽  
Sequencing Analysis ◽  
History Of ◽  
Mmr Proteins

590 Background: universal screening has been proposed as an alternative to clinical criteria for detection of Lynch syndrome (LS). Results of such policy have not been evaluated in mexican population with low incidence of colo-rectal cancer (CCR). Objective: to determine the proportion of patients tested by immunohistochemistry (IHC) for mismatch repair-deficient (dMMR) and characterize subsequent molecular and clinical work up for abnormal results. Methods: we identified all consecutive cases of CCR during 2016 at Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico. We recorded clinical variables, IHC for mismatch repair (MMR) proteins and/or clinical genetics evaluation and molecular confirmation of LS if available. Results: universal screening policy was adopted by our institution in 2016. 209 CRC patients had an outpatient consultation. The median age at diagnosis was 59.8 years. 103 IHC for MMR proteins were done (49%) regardless of age at diagnosis and a family history of CRC. 36/103 (35%) IHC showed abnormal result meaning lack of expression of at least one of four MMR proteins: 26 MLH1, 7 MSH2, 10 MSH6 and 23 PMS2. 11/36 patients (30%) had a family history of CRC. 26/36 (72%) were evaluated by clinical genetics service. Of 26 MLH1 deficient patients, only one case was tested for BRAF mutation. 14/36 patients (39%) were tested by sequencing analysis: 7 MLH1, 5 MSH2, 1 MSH6, 1 PMS2. 2/14 patients were tested by MLPA assay given negative sequencing analysis. Germ-line mutations were identified in 7/36 patients (19%). All mutations were identified in patients with a clinical suspicion given strong family history of CRC. No identified mutations could be attributed to universal screening policy. Conclusions: during the first year of implementing universal screening for LS in CRC patients only half of the patients were screened by IHC. Despite MLH1/PMS2 deficiency was the most frequent abnormality, BRAF mutation analysis was not performed as recommended, given the lack of access to the test. A clinical suspicion of LS was a determinant driver for confirmatory molecular testing therefore limiting the usefulness of universal screening.

scholarly journals Rectal Cancer Diagnosed after Cesarean Section in Which High Microsatellite Instability Indicated the Presence of Lynch Syndrome

2015 ◽  
Vol 2015 ◽  
pp. 1-5
Author(s):  
Tomohiro Okuda ◽  
Hiroshi Ishii ◽  
Sadao Yamashita ◽  
Sakura Ijichi ◽  
Seiki Matsuo ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Rectal Cancer ◽  
Family History ◽  
Cesarean Section ◽  
Lynch Syndrome ◽  
Microsatellite Instability ◽  
Birth Canal ◽  
Emergency Cesarean ◽  
History Of ◽  
Revised Bethesda Guidelines

We report a case of rectal cancer with microsatellite instability (MSI) that probably resulted from Lynch syndrome and that was diagnosed after Cesarean section. The patient was a 28-year-old woman (gravid 1, para 1) without a significant medical history. At 35 gestational weeks, vaginal ultrasonography revealed a 5 cm tumor behind the uterine cervix, which was diagnosed as a uterine myoma. The tumor gradually increased in size and blocked the birth canal, resulting in the patient undergoing an emergency Cesarean section. Postoperatively, the tumor was diagnosed as rectal cancer with MSI. After concurrent chemoradiation therapy, a lower anterior resection was performed. The patient’s family history revealed she met the criteria of the revised Bethesda guidelines for testing the colorectal tumor for MSI. Testing revealed that the tumor did indeed show high MSI and, combined with the family history, suggested this could be a case of Lynch syndrome. Our findings emphasize the importance of considering the possibility of Lynch syndrome in pregnant women with colorectal cancer, particularly those with a family history of this condition. We suggest that the presence of Lynch syndrome should also be considered for any young woman with endometrial, ovarian, or colorectal cancer.

scholarly journals Prevalence and spectrum of MLH1, MSH2, and MSH6 pathogenic germline variants in Pakistani colorectal cancer patients

2019 ◽  
Vol 17 (1) ◽  
Author(s):  
Muhammad Usman Rashid ◽  
Humaira Naeemi ◽  
Noor Muhammad ◽  
Asif Loya ◽  
Jan Lubiński ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Family History ◽  
Lynch Syndrome ◽  
Research Centre ◽  
Germline Variants ◽  
Pathogenic Variants ◽  
History Of ◽  
Group 2 ◽  
Colorectal Cancer Patients ◽  
Group 1

Abstract Background Pathogenic germline variants in MLH1, MSH2 and MSH6 genes account for the majority of Lynch syndrome (LS). In this first report from Pakistan, we investigated the prevalence of pathogenic MLH1/MSH2/MSH6 variants in colorectal cancer (CRC) patients. Methods Consecutive cases (n = 212) were recruited at the Shaukat Khanum Memorial Cancer Hospital and Research Centre (SKMCH&RC), between November 2007 to March 2011. Patients with a family history of > 3 or 2 HNPCC-associated cancers were classified as HNPCC (n = 9) or suspected-HNPCC (n = 20), respectively (group 1; n = 29). Cases with no family history were designated as non-HNPCC (group 2; n = 183). MLH1/MSH2/MSH6 genes were comprehensively screened in group 1. Pathogenic/likely pathogenic variants identified in group 1 were subsequently evaluated in group 2. Results Eight distinct pathogenic/likely pathogenic MLH1/MSH2 variants were found in group 1 (10/29; 34.5%), belonging to HNPCC (5/9; 55.6%) and suspected-HNPCC (5/20; 25%) families and in group 2 (2/183; 1.1%) belonging to non-HNPCC. Overall, three recurrent variants (MSH2 c.943-1G > C, MLH1 c.1358dup and c.2041G > A) accounted for 58.3% (7/12) of all families harboring pathogenic/likely pathogenic MLH1/MSH2 variants. Pathogenic MSH6 variants were not detected. Conclusion Pathogenic/likely pathogenic MLH1/MSH2 variants account for a substantial proportion of CRC patients with HNPCC/suspected-HNPCC in Pakistan. Our findings suggest that HNPCC/suspected-HNPCC families should be tested for these recurrent variants prior to comprehensive gene screening in this population.

scholarly journals Association of socio-demographic variables and risk of type 2 diabetes using Indian diabetes risk score: a cross-sectional study in urban Mysuru

2018 ◽  
Vol 5 (2) ◽  
pp. 740
Author(s):  
Mansoor Ahmed ◽  
Amrutha A. M.
Keyword(s):  
Risk Score ◽  
Cross Sectional Study ◽  
Risk Category ◽  
Sectional Study ◽  
Community Based ◽  
Cross Sectional ◽  
Family History Of Diabetes ◽  
Significant Difference ◽  
History Of ◽  
Risk Categories

Background: About 422 million people worldwide have diabetes. India has 69.2 million people living with diabetes out of a population of 1.3 billion (8.7%) as per the 2015 data. Of these, it remained undiagnosed in more than 36 million people. Early identification of at-risk individuals and appropriate lifestyle intervention would help in preventing or postponing the onset of diabetes mellitus. Present study aimed to study the association of IDRS components with socio demographic and anthropometric variables among adults in urban area of Mysore.Methods: A community-based cross sectional study was conducted in the urban areas of the field practice area of Mysore Medical College and Research Institute. The study was conducted between March and July 2015. Using the estimation set up technique for proportion, the sample size was calculated to be 872 rounded off to 900, with level of significance of 5% and precision of 10%. Risk level for diabetes was assessed using Indian Diabetic Risk Score (IDRS) and sociodemographic and anthropometric factors were assessed through a semi structured pretested questionnaire.Results: Of 900 participants, 197 (21.9%) had a high risk score (IDRS ≥60), the majority of participants (383; 42.5%) were in the moderate-risk category (IDRS 30–50). There was statistically significant difference between type of family and different risk categories under age component of IDRS (p<0.0005). Statistical significance was observed for marital status and SES among different age groups. Association was found significant between family history of diabetes component of IDRS and gender. There was also statistically significant difference between SES and different risk categories under family history of diabetes component of IDRS (p<0.0005).Conclusions: IDRS should be used routinely in community-based screening to find out high risk category of population for diabetes.

History-Taking

2016 ◽  
pp. 173-186
Author(s):  
Donald W. Winnicott
Keyword(s):  
Family History ◽  
Past History ◽  
History Taking ◽  
Clinical Notes ◽  
The Past ◽  
The Family ◽  
History Of

Chapter 1 of Clinical Notes on Disorders of Childhood. In this chapter, Winnicott argues for the importance of history taking in child medicine: the past history of the child, the family history, and the history of onset of the illness. He gives several cases which illustrate the value to the physician of taking the time to hear a full history.

Incidence and epigenetic factors associated with endometrial cancer in Appalachian Kentucky.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e17113-e17113
Author(s):  
Rohini Manda ◽  
Naga Praneeth Raja ◽  
Uday Shankar ◽  
Mark Dignan ◽  
Nagapavani Kandagari
Keyword(s):  
Endometrial Cancer ◽  
Family History ◽  
Lynch Syndrome ◽  
Age At Diagnosis ◽  
Epigenetic Factors ◽  
Family History Of Cancer ◽  
The Us ◽  
Appalachian Kentucky ◽  
History Of ◽  
History Of Cancer

e17113 Background: Data from the US Cancer Statistics Working Group shows that the age-adjusted incidence of endometrial cancer was 25.6/100,000, 2009-2013 for the US and 24.9/100,000 for the Commonwealth of Kentucky. However, for the Kentucky River Area Development District (KR) in the Appalachian region, the rate was higher at 34.2/100,000. This investigation was designed to explore epigenetic factors related to the elevated incidence of endometrial cancer in the KR region of Kentucky. Methods: With IRB approval, retrospective data on women with endometrial cancer were abstracted from tumor registry records for the period 2005-2015. Data including age at diagnosis, family history of cancer, smoking, diabetes and demographic characteristics were analyzed using SPSS. Results: Data on 41 cases of endometrial cancer from 2005-2015 were included in the analyses. The age range was 37-87 with mean age 62. Of the 41 cases, 19.5% (8/41) were under age 50 at diagnosis. 2 out of 8 (25%) had family history of Lynch syndrome associated malignancies. 9 (22.0%) had family history of cancer. No significant associations between smoking, age at diagnosis and diabetes were noted. Conclusions: There is an increased incidence of endometrial carcinoma in Appalachian Kentucky in general, and elevated rates in women under age 50 compared to statewide and US rates. We have shown from our previous research that there is a higher incidence of lynch syndrome among young patients with colon cancer in Appalachian Kentucky. Similar findings were observed with endometrial cancer from this analysis. Further evaluation and genetic testing for any association with Lynch syndrome in this age group is needed.

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