scholarly journals Cancer Genetics Clinics and the Surgeon: A Valuable Role for Family History Screening

2007 ◽  
Vol 89 (2) ◽  
pp. 127-129 ◽  
Author(s):  
GL Williams ◽  
J Gray ◽  
J Beynon
Keyword(s):  
Colorectal Cancer ◽  
Family History ◽  
Cancer Genetics ◽  
Risk Category ◽  
Moderate Risk ◽  
Familial Predisposition ◽  
Increased Risk ◽  
Colorectal Surgeon ◽  
Surgical Clinic ◽  
Valuable Role

INTRODUCTION This study examines how a colorectal surgeon can use a regional cancer genetics service to deal safely and efficiently, with community referrals for colorectal cancer screening on the basis of family history. PATIENTS AND METHODS A retrospective review of consecutive asymptomatic people with a strong family of colorectal cancer referred by the surgeon to the genetics service over a 30-month period. RESULTS A total of 45 people were referred by the surgeon to the cancer genetics service. Following official verification of family histories, 15 were thought to be in a low-risk category for developing colorectal cancer, 18 were moderate risk, 4 had a high-to-moderate risk and 2 satisfied the criteria for HNPCC. After official authentication, it was discovered that 20% of people had mistakenly informed the surgeon of important inaccuracies in their family history. CONCLUSIONS The cancer genetics service seeks to identify accurately those at increased risk of developing colorectal cancer due to their family history. It has the time, resources and expertise to verify officially a family history that cannot be properly done in a busy surgical clinic. This study shows that it can provide a valuable role for correctly identifying and counselling people who truly require screening due to their familial predisposition for colorectal cancer.

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 Risk category system to identify pituitary adenoma patients with AIP mutations

2018 ◽  
Vol 55 (4) ◽  
pp. 254-260 ◽  
Author(s):  
Francisca Caimari ◽  
Laura Cristina Hernández-Ramírez ◽  
Mary N Dang ◽  
Plamena Gabrovska ◽  
Donato Iacovazzo ◽  
...  
Keyword(s):  
Pituitary Adenoma ◽  
Family History ◽  
High Risk ◽  
Pituitary Adenomas ◽  
Univariate Analysis ◽  
Low Risk ◽  
Individual Risk ◽  
Risk Category ◽  
Moderate Risk ◽  
Category System

BackgroundPredictive tools to identify patients at risk for gene mutations related to pituitary adenomas are very helpful in clinical practice. We therefore aimed to develop and validate a reliable risk category system for aryl hydrocarbon receptor-interacting protein (AIP) mutations in patients with pituitary adenomas.MethodsAn international cohort of 2227 subjects were consecutively recruited between 2007 and 2016, including patients with pituitary adenomas (familial and sporadic) and their relatives. All probands (n=1429) were screened for AIP mutations, and those diagnosed with a pituitary adenoma prospectively, as part of their clinical screening (n=24), were excluded from the analysis. Univariate analysis was performed comparing patients with and without AIP mutations. Based on a multivariate logistic regression model, six potential factors were identified for the development of a risk category system, classifying the individual risk into low-risk, moderate-risk and high-risk categories. An internal cross-validation test was used to validate the system.Results1405 patients had a pituitary tumour, of which 43% had a positive family history, 55.5% had somatotrophinomas and 81.5% presented with macroadenoma. Overall, 134 patients had an AIP mutation (9.5%). We identified four independent predictors for the presence of an AIP mutation: age of onset providing an odds ratio (OR) of 14.34 for age 0-18 years, family history (OR 10.85), growth hormone excess (OR 9.74) and large tumour size (OR 4.49). In our cohort, 71% of patients were identified as low risk (<5% risk of AIP mutation), 9.2% as moderate risk and 20% as high risk (≥20% risk). Excellent discrimination (c-statistic=0.87) and internal validation were achieved.ConclusionWe propose a user-friendly risk categorisation system that can reliably group patients into high-risk, moderate-risk and low-risk groups for the presence of AIP mutations, thus providing guidance in identifying patients at high risk of carrying an AIP mutation. This risk score is based on a cohort with high prevalence of AIP mutations and should be applied cautiously in other populations.

scholarly journals Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG)

Gut ◽  
2019 ◽  
Vol 69 (3) ◽  
pp. 411-444 ◽  
Author(s):  
Kevin J Monahan ◽  
Nicola Bradshaw ◽  
Sunil Dolwani ◽  
Bianca Desouza ◽  
Malcolm G Dunlop ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Great Britain ◽  
Family History ◽  
Cancer Genetics ◽  
Genetic Diagnosis ◽  
Lifetime Risk ◽  
British Society ◽  
Screening And Surveillance ◽  
History Of ◽  
The Uk

Heritable factors account for approximately 35% of colorectal cancer (CRC) risk, and almost 30% of the population in the UK have a family history of CRC. The quantification of an individual’s lifetime risk of gastrointestinal cancer may incorporate clinical and molecular data, and depends on accurate phenotypic assessment and genetic diagnosis. In turn this may facilitate targeted risk-reducing interventions, including endoscopic surveillance, preventative surgery and chemoprophylaxis, which provide opportunities for cancer prevention. This guideline is an update from the 2010 British Society of Gastroenterology/Association of Coloproctology of Great Britain and Ireland (BSG/ACPGBI) guidelines for colorectal screening and surveillance in moderate and high-risk groups; however, this guideline is concerned specifically with people who have increased lifetime risk of CRC due to hereditary factors, including those with Lynch syndrome, polyposis or a family history of CRC. On this occasion we invited the UK Cancer Genetics Group (UKCGG), a subgroup within the British Society of Genetic Medicine (BSGM), as a partner to BSG and ACPGBI in the multidisciplinary guideline development process. We also invited external review through the Delphi process by members of the public as well as the steering committees of the European Hereditary Tumour Group (EHTG) and the European Society of Gastrointestinal Endoscopy (ESGE). A systematic review of 10 189 publications was undertaken to develop 67 evidence and expert opinion-based recommendations for the management of hereditary CRC risk. Ten research recommendations are also prioritised to inform clinical management of people at hereditary CRC risk.

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]

The role of nursing in obtaining a three-generation familial cancer history intake tool (FCHT) and the care of patients with hereditary gastrointestinal syndromes.

2014 ◽  
Vol 32 (30_suppl) ◽  
pp. 216-216
Author(s):  
Lucia Fontes-Borts ◽  
Howard Safran ◽  
Kimberly Perez
Keyword(s):  
Colorectal Cancer ◽  
Family History ◽  
Sex Education ◽  
Hereditary Cancer ◽  
Familial Cancer ◽  
Hereditary Cancer Syndromes ◽  
Increased Risk ◽  
Generation Family ◽  
Cancer Syndromes ◽  
The Impact

216 Background: Of patients diagnosed with colorectal cancer, 5-10% of all cancers are associated with hereditary cancer syndromes. Since hereditary gastrointestinal cancer syndromes convey a markedly increased risk for developing cancer, identification of affected families is important. Studies have found that clinicians are unlikely to adequately or routinely collect family history information on their patients. This study assessed the implementation of a validated three-generation family history intake tool by an advanced practiced nurse practitioner (APNP) and the impact on clinical practice at a mid-size academic affiliated Medical Oncology practice. Methods: From September 2013 to January 2014, 100 patients with the diagnosis of colorectal cancer were assessed after a clinic session with a physician by an APNP. The APNP utilized a validated 3 - generation family history tool. Information regarding age, sex, education, annual income, family ethnicity, diet, exercise and previous genetic testing was also collected. Data collected was then analyzed to assess risk of hereditary syndrome. A chart review of the patients was performed to analyze microsatellite instability testing and prior genetic counseling referrals. Results: Of the 100 screened, 93 patients were evaluable. There were 52 males: 39 female participants with a median age of 60.71 years (range 28-90). The implementation of FCHT was associated with an increase in identification of individuals at risk; 16 (17.2%) patients reported a diagnosis of CRC at age less than 50. The rate of referrals for genetic evaluation tripled after the implementation of the FCHT (6.5% to 16.3%). Of the 17 referred, five had been referred prior to implementation of the FCHT. Conclusions: Institution of a separate session with an APNP to assess family history resulted in a 3-fold increase in rates of detection of patients with high risk for hereditary cancer syndromes associated with colorectal cancer.This study demonstrates that APNP’s are well positioned to promote preventative health by engaging in family history intake and genetic assessment referral.

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  

Current Approaches in Familial Colorectal Cancer: A Clinical Perspective

2006 ◽  
Vol 4 (4) ◽  
pp. 421-430 ◽  
Author(s):  
Patrick M. Lynch
Keyword(s):  
Colorectal Cancer ◽  
Cancer Genetics ◽  
Human Cancer ◽  
Clinical Syndrome ◽  
Colorectal Adenomas ◽  
Comprehensive Cancer Center ◽  
Cancer Center ◽  
Inherited Cancer ◽  
Risk Estimates ◽  
Increased Risk

Individuals with a family history of colorectal cancer or colorectal adenomas have an increased risk for colorectal cancer. When no hereditary syndrome is evident, screening is based on empiric risk estimates. The risk is greatest for individuals with specific inherited cancer-predisposing disorders. When conditions such as familial adenomatous polyposis or hereditary nonpolyposis colorectal cancer are diagnosed, specific neoplasm risk estimates can usually be performed based on advances in molecular genetics. These estimates lead to more straightforward and cost-effective approaches to surveillance and management. The National Comprehensive Cancer Center Network (NCCN) and other groups have provided detailed guidelines for evaluating patients based on recognition of clinical syndrome characteristics, followed by appropriate genetic counseling, genetic testing, and optimal surveillance. The NCCN guidelines are used as a frame of reference for this discussion of selected recent advances in human cancer genetics as they apply to clinical practice.

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