hereditary colorectal cancer

This tag is associated with 9 posts

Younger people with bowel cancer: A guide for people diagnosed under 50 (from Bowel Cancer UK)

BowelCancerUKSince we launched our Never Too Young campaign, we regularly hear from younger people with bowel cancer who find it hard to get information and support that is relevant to them.

As a result of this feedback, we have produced a new booklet called Younger people with bowel cancer: a guide for the under 50s. This aims to fill the gaps in the information that younger people receive when they are diagnosed with bowel cancer. We hope it will also be useful for family and friends.

The booklet gives an introduction to how bowel cancer can affect the body, emotions, relationships and everyday life. It contains information on issues such as fertility, genetic risk, the impact on young children, family and work life, and contains lots of recommendations for other useful sources of information.

Order your printed copy here.

The information in the booklet is evidence-based and has been reviewed by health professionals and people with bowel cancer.


A national survey of hereditary colorectal cancer services in the United Kingdom

Autosomal dominant pedigree chart. In Autosoma...

A new study has just been published in the journal Frontline Gastroenterology.  This shows a highly inconsistent approach to the management of patients at elevated risk of hereditary colorectal cancer (CRC) in the United Kingdom (UK). 

The British Society of Gastroenterology (BSG) Cancer Group designed a national survey to determine how we might understand and improve the service for these patients.

What is already known on this topic? Genetic factors contribute about 35% of all colorectal cancer (CRC) risk.  There is good evidence that the correct management of patients with an elevated hereditary risk is a highly effective method of preventing CRC.  This can be achieved by screening according to guidelines and the development of a high quality service with clear patient pathways.  However in some studies there is evidence of an inconsistent approach to the management of those patients, with low risk patients being screened too often, and high risk patients not frequently enough.  There is also a low referral rate to genetic services for high risk patients.

What this study adds? Responses to this national survey suggest a poor understanding of the current guidelines amongst clinicians and variable clinical pathways for patients.  There is also a perception that another unspecified clinician is undertaking this work.  This may explain the wide variation in care and low adherence to guidelines in the United Kingdom (UK).

How might it impact on clinical practice in the foreseeable future? We recommend the development of clear structures and the provision of a high quality service to these patients through national audit, development of quality standards and education of physicians and surgeons in the UK.  Each hospital should develop a lead clinician for the delivery of these services.  Only in this way will this ad hoc approach to the management of hereditary CRC be improved.

Study Reference: Kevin Monahan & Susan Clark.  Frontline Gastroenterology. 2013 Online First


Objectives: The British Society of Gastroenterology (BSG) Cancer Group designed a survey to determine how we might understand and improve the service for patients at elevated risk of hereditary colorectal cancer (CRC).

Design and Setting: United Kingdom (UK) gastroenterologists, colorectal surgeons, and oncologists were invited by email to complete a 10 point questionnaire. This was cascaded to 1,793 members of the Royal College of Radiologists (RCR), Association of Cancer Physicians (ACP), the Association of Coloproctology of Great Britain and Ireland (ACPGBI), as well as BSG members.
Results:  Three hundred and eighty-two members responded to the survey, an overall response rate of 21.3%. Although 69% of respondents felt there was an adequate service for these higher risk patients, 64% believed that another clinician was undertaking this work. There was no apparent formal patient pathway in 52% of centres, and only 33% of centres maintain a registry of these patients. Tumour block testing for Lynch Syndrome is not usual practice. Many appeared to be unaware of the BSG/ACPGBI UK guidelines for the management of these patients.
Conclusions: There is wide variability in local management and in subsequent clinical pathways for hereditary CRC patients. There is a perception that they are being managed by ‘another’, unspecified clinician. National guidelines are not adhered to. We therefore recommend improved education, well defined pathways and cyclical audit in order to improve care of patients with hereditary CRC risk.

Bowel Cancer UK Survey for Colorectal Cancer Patients Diagnosed under 50 Years of Age

Please click here to start the survey from Bowel Cancer UK

Bowel Cancer UK“Thank you for agreeing to complete our survey. It should take no more than 20 minutes to complete and we appreciate your input in helping Bowel Cancer UK to understand the issues affecting young people with bowel cancer.
Your answers are completely confidential.
If you have any concerns about bowel cancer, please do not hesitate to contact the Bowel Cancer UK Information and Support Service on 0800 8 40 35 40.”

Incorporating genetic and environmental risk factors in to risk prediction for colorectal cancer

Cancer Epidemiology HomeFrom: Incorporating non-genetic risk factors and behavioural modifications into risk prediction models for colorectal cancer

Yarnall, Crouch & Lewis (Division of Genetics and Molecular Medicine, King’s College London, United Kingdom.). Cancer Epidemiology 2013 Jan 29


Background: Epidemiological studies have identified potentially modifiable risks for colorectal cancer, including alcohol intake, diet and a sedentary lifestyle. Modelling these environmental factors alongside genetic risk is critical in obtaining accurate estimates of disease risk and improving our understanding of behavioural modifications. Methods: 14 independent single nucleotide polymorphisms identified though GWAS studies and reported on by the international consortium COGENT were used to model genetic disease risk at a population level. Six well validated environmental risks were selected for modelling together with the genetic risk factors (alcohol intake; smoking; exercise levels; BMI; fibre intake and consumption of red and processed meat). Through a simulation study using risk modelling software, we assessed the potential impact of behavioural modifications on disease risk. Results: Modelling the genetic data alone leads to 24% of the population being classified as reduced risk; 60% average risk; 10% elevated risk and 6% high risk for colorectal cancer. Adding alcohol consumption to the model reduced the elevated and high risk categories to 9% and 5% respectively. The simulation study suggests that a substantial proportion of individuals could reduce their disease risk profile by altering their behaviour, including reclassification of over 62% of heavy drinkers. Conclusion: Modelling lifestyle factors alongside genetic risk can provide useful strategies to select individuals for screening for colorectal cancer risk. Impact: Quantifying the impact of moderating behaviour, particularly related to alcohol intake and obesity levels, is beneficial for informing health campaigns and tailoring prevention strategies.

Risk factors

Low risk (Green), average risk (blue), moderate risk (yellow) and high risk (red)using combined genetic and environmental risk factors


Over the last 30 years the lifetime risk of colorectal cancer (CRC) for men has almost doubled, from 3.5% to 6.9% in the UK in 2008. For women the increase is more than a quarter, rising from 3.9% to 5.4%.  Since both genetic and environmental factors contribute to the susceptibility to colorectal cancer, this trend may be due to a change in the dietary and lifestyle factors of the general population leading to higher levels of obesity and more sedentary pastimes.

The major risk factor for colorectal cancer is age and over 85% of colorectal cancer occurs in people over the age of 60.  Other risk factors include the presence of polyps and people having an Ashkenazi Jewish genetic heritage. The use of non-steroidal anti-inflammatory drugs (NSAIDs), hormone replacement therapy and aspirin use have also been associated with disease risk. However, it is estimated that between 52 and 57% of colorectal cancers are associated with lifestyle and environmental factors.  Many risk factors for colorectal cancer may be modified by intervention, ranging from known risks, such as increased risk from a sedentary lifestyle and dietary changes. The evidence for dietary factors indicates possible increased risk from diets low in fibre, garlic, calcium, fruit, vegetables and fish and high in red and processed meat. In addition to alcohol, BMI, smoking and exercise, we chose to model the most consistent and well validated dietary findings, which suggest that low levels of fibre and high levels of red and processed meat are both significant risk factors.

The international consortium COGENT (COlorectal cancer GENeTics) have identified many of the known genetic variants that predispose to CRC with the 14 single nucleotide polymorphisms (SNPs) found to be convincingly associated with CRC risk from GWA studies summarized in Houlston et al.’s recent update.  Of these 14 SNPs, the mean odds ratio per allele is 1.14, with the highest odds ratio reported for SNP rs16892766 near the EIF3H gene (OR 1.28).

The identification of SNPs that contribute to susceptibility for CRC has raised the prospect of genetic screening. Companies such as DeCODEme and 24andme include panels of SNPs for CRC in their genetic testing panels, yet research suggests that the genetic risk prediction alone is of questionable utility.  In this research study, we combined the known genetic risk with data on the environmental risks for CRC, enabling more complete risk prediction. We applied a statistical risk model and to determine the impact of modelling environmental factors alongside the 14 genetic susceptibility loci identified by the COGENT consortium.

Early screening for colorectal cancer can be extremely helpful in identifying individuals with polyps and nonpolypoid lesions and preventing the development of cancer. Regular faecal occult blood tests (FOBT) in the over 50 s for example have been found to reduce the number of deaths due to CRC by 15–33%.  In the UK, screening is offered to all men and women aged between 60 and 69 at a cost of £77.3 million and this will be extended to 74 year olds. However, it has been suggested that if individuals are provided with a personalized disease risk assessment from their combined genetic and environmental profile, they are likely to be more motivated to alter their lifestyle as a preventative measure, which would increase the effectiveness of health campaigns. In this study we develop predictions of CRC risk in different sub populations and assess the impact of modifying lifestyle factors on risk levels. By providing predictions of disease risk both before and after a lifestyle change for a given genetic profile, the study illustrates the potential benefits for both selection of candidates for screening programmes and the tailored promotion of healthier lifestyle choices, in high risk groups.

There are several modifiable risk factors for colorectal cancer and building predictive models encompassing both genetic and environmental factors enables us to move in the direction of a complete assessment of disease risk. This paper describes a predictive model which takes account of the known genetic contribution as well as the modifiable risks. There is considerable evidence to suggest that detecting polyps in the early stages can reduce mortality rates for colorectal cancer and whilst the interactions between the genetic and environmental elements are undeniably complex, separating out the inherited risk from the lifestyle factors using this model helps to illustrate the potential gains from modifying lifestyle behaviour and could usefully inform healthy lifestyle campaigns.

Our findings indicate that that cessation of alcohol consumption and reducing obesity levels lead to the most significant changes to the proportion of the population reducing their disease risk category. Whilst this could have been predicted to some extent by the higher odds ratios for these factors, it is the combination of relative risk, together with the prevalence of the factor within the population that determines the overall impact. In addition, being able to create personalized risk predictions in this way, has the potential to motivate greater behavioural change, showing for example, that it is possible to significantly reduce disease risk by moving from a high risk category to an average risk category though increasing fibre levels; cessation of alcohol consumption or weight management, given a particular genetic profile. Further research is required to increase understanding of how individuals respond to risk assessment based on genetic information.  This may increases their motivation since the results are personal, or decrease their motivation because they consider that their genetic risk cannot be modified.

Our focus has been on risk categorization, and not on the absolute level of risk estimated from the combination of genetic and environmental risk factors, which is modest for most categories. There are two advantages to this strategy. Firstly it moves away from the strategy used, for example, by direct-to-consumer genetic testing companies such as 23andme and deCODEme (who provide a single figure of risk with no confidence intervals) towards the strategy deployed in genetic counselling of using a qualitative risk level, which can be more easily interpreted for the purpose of risk prediction. Secondly, it puts a stronger statistical framework on the risk model: an assignment to elevated risk implies that the risk is statistically distinct from the risk of the average, baseline, individual, given the uncertainty of the parameters used in the model.

There are several limitations of the model. Firstly, the model is built from estimates in the literature extracted from different studies. This enables researchers to select the best study to capture information on each risk factor, but assumes that information is directly comparable between studies. This limits the precision with which risk estimates can be calculated. A further limitation is that the model assumes all risk factors entered are independent. For known gene and environment interactions, this can be overcome by either modelling the interaction explicitly as an environmental risk factor, or by omitting known genetic loci to prevent over-representation of a risk factor (such as SNPs on the FTO gene which are associated with BMI). Within the genetic component, linkage disequilibrium between SNPs can be tested to confirm no correlation at a population level; few interactions of risk between genetic loci have been identified, so the assumption of independence should not be a major problem. For the environmental component, assumptions of independence are more difficult to assess. Lack of independence may lead to inaccuracies in the population frequencies estimated, but the contribution of environmental factors to the model is based on relative risks that are estimated in the presence of relevant covariates, so levels of risk should not be inflated. Increasing our understanding of the association between lifestyle factors, as well as between genes and the environment, will be important in obtaining more accurate assessments of risk. In addition, the accuracy could be further improved by more specific modelling of the population being targeted. Applying data with relative risks by sex, by population group, or for individuals with a first degree relative with CRC for example, would provide more accurate estimations of disease risk specific to those populations.

Colorectal cancer screening programmes are widespread, but are age-targeted and look for signs of cancer in early development. In contrast, the methods described here can be used to target lifestyle factors, and are relevant for younger age-groups. The approach could encourage behavioural changes and help to reduce CRC rates. Although the model indicates that certain individuals can reduce their CRC risk by changing their behaviour, the time taken for changes in environmental risk factors to have an effect on risk is unknown, and will differ by factor. Additional research is needed to further elucidate the genetic and environmental contributions to disease risk and to measure the longer term impact of behavioural change on disease outcomes.

Cancer diagnosis later in life poses significant risk to offspring

Cancer diagnosis later in life poses significant risk to offspring

But highest familial risk still in relatives whose parents diagnosed at earlier ages

Research: Familial risk of early and late onset cancer: nationwide prospective cohort study

Relatives of family members diagnosed with cancer are still at risk of the disease even if the diagnosis came at an older age, suggests a paper published on today.

It is known that early onset cancer cases carry more hereditary risk than late onset cases, but little is known about whether any familial component exists in cancer at a very old age.

Researchers from the German Cancer Research Centre and Lund University in Sweden therefore took data from the Swedish Family-Cancer Database (the largest one of its kind) on just under eight million offspring and their biological parents.

Parents’ ages were not limited but offspring were all 0-76 years old. Follow-up was started at birth, immigration date or 1961, whichever came latest. Follow-up ended on year of diagnosis of first cancer, death, emigration or 2008.

Results were adjusted for several factors including age, sex, socioeconomic status, residential area, hospitalisation for obesity, COPD and alcohol consumption.

The highest risk was seen in cases whose parents were diagnosed at earlier ages. However, even when parents were affected in old age (80+) and for some cancers in very old age (90+), the risk of the same cancer in offspring was significantly higher than those whose parents were not affected.

Increased risks for each cancer were as follows (in offspring aged 0-76 years): non-Hodgkin lymphoma 1.6%; urinary bladder 2.8%; skin 3.5%; melanoma 4.6%; lung 5%; colorectal 6.4%; breast 8.8% and prostate 30.1%.

In the study population, 35-81% of all familial cancers in parents occurred over 69 years of age (colorectal: 59%, lung: 56%, breast 41%, prostate: 75%, urinary bladder: 62%, and skin cancer: 81%, melanoma: 35%, and non-Hodgkin’s lymphoma: 54%). Therefore, the majority of familial cancers occur at elderly ages.

Attempts to explain familial risks by non-genetic factors were not convincing. Therefore, the researchers concluded that familial risks have largely genetic bases.

The researchers believe that  family members (in particular offspring) may benefit from knowing that they’re at increased risk of a particular cancer because it allows them to avoid known modifiable risk factors for that cancer.

Click here to see full study:

BMJ. 2012 Dec 20;345:e8076. doi: 10.1136/bmj.e8076.

Familial risk of early and late onset cancer: nationwide prospective cohort study.

Kharazmi E, Fallah M, Sundquist K, Hemminki K.

Division of Molecular Genetic Epidemiology, German Cancer Research Centre, 69120 Heidelberg, Germany.



To determine whether familial risk of cancer is limited to early onset cases.


Nationwide prospective cohort study. SETTING : Nationwide Swedish Family-Cancer Database.


All Swedes born after 1931 and their biological parents, totalling >12.2 million individuals, including >1.1 million cases of first primary cancer.


Familial risks of the concordant cancers by age at diagnosis.


The highest familial risk was seen for offspring whose parents were diagnosed at an early age. Familial risks were significantly increased for colorectal, lung, breast, prostate, and urinary bladder cancer and melanoma, skin squamous cell carcinoma, and non-Hodgkin’s lymphoma, even when parents were diagnosed at age 70-79 or 80-89. When parents were diagnosed at more advanced ages (≥90), the risk of concordant cancer in offspring was still significantly increased for skin squamous cell carcinoma (hazard ratio 1.9, 95% confidence interval 1.4 to 2.7), colorectal (1.6, 1.2 to 2.0), breast (1.3, 1.0 to 1.6), and prostate cancer (1.3, 1.1 to 1.6). For offspring with a cancer diagnosed at ages 60-76 whose parents were affected at age <50, familial risks were not significantly increased for nearly all cancers.


Though the highest familial risks of cancer are seen in offspring whose parents received a diagnosis of a concordant cancer at earlier ages, increased risks exist even in cancers of advanced ages. Familial cancers might not be early onset in people whose family members were affected at older ages and so familial cancers might have distinct early and late onset components.

NCHPEG & AMA Release New Educational Program on Hereditary CRC

NCHPEG & AMA Release New Program on Hereditary CRC

NCHPEG and the American Medical Association (AMA) have released a free Web-based educational program designed to improve the primary care provider’s ability to identify hereditary colorectal cancer syndromes in their patients. This program focuses on case-based learning through a series of clinical scenarios that apply point-of-care tools to key clinical roles in risk assessment, genetic testing, communication, and management. The program also provides access to the point-of-care tools as downloadable pdfs for use in patient care.

alt“With rapidly developing advances in genetic and molecular medicine, physicians are seeking ways to stay up-to-date in this field to better serve their patients,” said AMA President Jeremy A. Lazarus, M.D. “These developments have made it possible for physicians to now identify hereditary cancer syndromes by looking for specific clues in a patient’s personal and family medical history. We created this educational program to help physicians identify, evaluate, communicate with and manage patients at increased risk for colorectal cancer.”

Colorectal cancer affects approximately 140,000 individuals annually in the U.S. Like other cancers, it develops due to a combination of genetic, biologic and environmental factors interacting together. Approximately 5-10 percent of colorectal cancers are caused by a hereditary syndrome in which a single gene alteration conveys a high risk of colorectal and sometimes other cancers. Individuals suspected to have a hereditary cancer syndrome can sometimes be offered genetic testing to aid in the diagnosis.

“Physicians and other health providers often need information and tools to integrate genetics into their practice,” said NCHPEG Executive Director Joan Scott, M.S., C.G.C. “We developed this program to allow providers to learn as they apply skills through working through cases.  They leave the program with knowledge, skills and easily accessible point-of-care tools they can use with their patients.”

This course is available freely available to all users.  CME is available in both an enduring, traditional format and a performance improvement format.  The enduring format of the course has been certified for 6.0 AMA PRA Category 1 CreditsTM, while participants who complete all three stages of the performance improvement format are eligible for 20.0 AMA PRA Category 1 CreditsTM.

This program was funded by Myriad Genetics, VHA Contract #VA200P0034, AMA, and Humana.

Interested in taking the program? The course is available in both an enduring format and a performance improvement format for CME credit. Individuals who do not plan to apply for CME should register for the enduring course. Click on the links to read more about each option and register.

Interested in learning more? Read the Introduction to the program, which includes the learning objectives and other information, and see the press release.

EGAPP™ Recommendation Statement: Genetic testing for Lynch Syndrome

EGAPP™ Recommendation Statement

EGAPP™ Recommendation Statement Adobe PDF file [PDF 219 KB]External Web Site Icon

“The Evaluation of Genomic Applications in Practice and Prevention (EGAPP™) Working Group found sufficient evidence to recommend offering genetic testing for Lynch syndrome to individuals with newly diagnosed colorectal cancer (CRC) to reduce morbidity and mortality in relatives. We found insufficient evidence to recommend a specific genetic testing strategy among the several examined.”

Summary of Findings on Genetic Testing for Lynch Syndrome for the General Public

General Public:
Genetic Testing for Lynch Syndrome

In 2009, the independent, non-federal Evaluation of Genomic Applications in Practice and Prevention (EGAPP™) Working GroupExternal Web Site Icon reviewed the scientific evidence for genetic testing for Lynch syndrome (hereditary colorectal cancer) and developed a recommendation statement about the appropriate use of this testing. This brief summary of the EGAPP™ recommendation statement can help the general public understand what is intended by the EGAPP™ recommendation and where to find more information.

This information may be helpful for people with a recent diagnosis of colorectal cancer (cancer of the colon or rectum) and their close family members.

  • What is the purpose of genetic testing for Lynch syndrome for people newly diagnosed with colorectal cancer?

    Genetic testing is used to find out if a person’s colorectal cancer is hereditary (caused by an inherited gene change), so that family members can learn if they are also at increased risk.  This could help to protect them from getting this disease.

  • What is Lynch syndrome?

    About 3% of colorectal cancer cases are due to an inherited condition known as Lynch syndrome (sometimes referred to as hereditary nonpolyposis colorectal cancer or HNPCC).  People with this condition have a greatly increased chance to develop colorectal cancer, especially at a young age (younger than 50 years).  Children, sisters, and brothers of people with Lynch syndrome have a 50% chance to inherit the condition. Parents and other blood relatives such as grandparents, aunts, uncles, nieces and nephews are also at increased risk to have Lynch syndrome.

  • Who developed this recommendation?

    The EGAPP™ Working Group is a group of scientists and health care experts who review available research and evidence to make recommendations about the use of genetic tests.  This independent, non-government body includes representatives from universities, industry, clinical practice, insurance companies, and public health.

  • Did EGAPP™ recommend the use of genetic testing for newly diagnosed colorectal cancer patients?
    • YES:  The EGAPP™ Working GroupExternal Web Site Iconfound good scientific evidence to show that if individuals with colorectal cancer are found to have Lynch syndrome by genetic testing, their family members can benefit by:
      • undergoing genetic testing to learn if they are also at increased genetic risk.
      • if positive for the gene change, having earlier and more frequent screening which can prevent colorectal cancer.
    • They concluded that all people with a new diagnosis of colorectal cancer should be offered counseling and educational materials about genetic testing for Lynch syndrome.


Other Information

  • Are there other people the test might help?
    Although the EGAPP recommendation did not address use of testing in other situations, people with colorectal cancer diagnosed in the past (especially under age 50), and/or people with several family members with colorectal and/or uterine cancer may also benefit from genetic evaluation for Lynch syndrome.
  • How do I find out more about the condition/test?
    In addition to talking with your health care provider, the Web sites below provide additional information on colorectal cancer, Lynch syndrome, cancer genetic testing, and access to genetic counseling services.

    Health Professionals:
    More About the EGAPP™ Lynch Syndrome Recommendation

    This page contains more information about the EGAPP Lynch syndrome recommendation for health professionals.

    For more information about genetic testing for Lynch syndrome that is not part of the EGAPP recommendation, see More About Genetic Testing for Lynch Syndrome.

    EGAPP™ Evidence Review at a Glance

    Testing Approach Application Quality of Evidence
    Adequacy of information to address:
    Overall Recommendation*
    Analytic Validity Clinical Validity Clinical Utility
    DNA analysis of mismatch repair (MMR) genes: (MLH1, MSH2, MSH6, PMS2) Diagnostic Testing Adequate Convincing Adequate Sufficient evidence to recommend use for the benefit of relatives
    Microsatellite Instability (MSI) Preliminary (Screening) Test Convincing / Adequate
    Immunohisto-chemistry (IHC) Preliminary (Screening) Test Convincing / Adequate
    Methylation Status (BRAF V600E mutation) Preliminary (Screening) Test (Supplemental to IHC) Adequate

    *Overall recommendation was decided on the basis of a) evidence indicating moderate level of net health benefits to relatives, and b) contextual factors.

    EGAPP™ Recommendation Statement Adobe PDF file [PDF 219 KB]External Web Site Icon

    “The Evaluation of Genomic Applications in Practice and Prevention (EGAPP™) Working Group found sufficient evidence to recommend offering genetic testing for Lynch syndrome to individuals with newly diagnosed colorectal cancer (CRC) to reduce morbidity and mortality in relatives. We found insufficient evidence to recommend a specific genetic testing strategy among the several examined.”

    Considerations for Practice

    Note: See Contextual Factors Identified by EGAPP™ for more information.

    • All patients with a new diagnosis of colorectal cancer (regardless of age or family history) should be offered counseling and educational materials regarding genetic testing for Lynch syndrome.
      • The primary benefit will be the identification of relatives who also carry a gene mutation for Lynch syndrome. Affected relatives can be offered appropriate screening beginning at age 20-25.
    • Colonoscopy every one to two years is recommended for these patients and their relatives who test positive for Lynch syndrome beginning at age 20-25 years. Although there is not enough research to indicate that colorectal cancer due to Lynch syndrome should be treated differently than non-Lynch related colorectal cancer, individuals with Lynch syndrome are at increased risk for additional cancers and second primary colon tumors.
    • Individuals with colorectal cancer should be offered genetic testing even if there are no other family members with Lynch syndrome cancers. This is because family history was found to be less useful as a first step than strategies involving tumor testing in identifying Lynch syndrome in individuals with colorectal cancer. However, family history may still be an important decision tool for identifying individuals in the general population for referral to genetic counseling services to evaluate risk for hereditary colorectal cancer.

    See More Considerations for Practice for additional information that is not part of the EGAPP™ recommendation.

    Testing Approaches

    Several testing approaches are potentially effective for identifying Lynch syndrome. DNA analysis has the highest sensitivity and specificity, but is also the most expensive. Most protocols directed at screening unselected colon cancers begin with preliminary testing of tumor tissue by MSI and/or IHC (with or without BRAF mutation).

    • Diagnostic testing: Typically performed on blood; identifies an inherited mutation in one of the Lynch syndrome genes.
      • DNA analysis (gene sequencing, deletion/duplication testing) for the mismatch repair (MMR) genes: MLH1, MSH2, MSH6, and PMS2.
    • Preliminary (Screening) Tests: Performed on tumor tissue; does not identify Lynch (MMR) gene mutations, but is used to guide subsequent diagnostic testing via DNA analysis.
      • MSI testing of tumor tissue: those with high instability either proceed to DNA analysis for MLH1, MSH2, MSH6, and PMS2 or to IHC testing.
      • IHC testing of tumor tissue: those with negative staining would proceed to DNA analysis of the gene/genes indicated.
      • Modification of Strategy 3, such that tumor tissue of patients with negative staining for MLH1 on IHC is tested for the BRAF V600E mutation to determine methylation status.  If the BRAF mutation is not found, the individual continues on for MLH1 DNA analysis.

    For more information about genetic testing approaches for Lynch syndrome, please see the National Library of Medicine, GeneReviews Web siteExternal Web Site Icon. (Note: This Web site does not necessarily reflect the opinions or recommendations of the Centers for Disease Control and Prevention or the EGAPP Working Group.)

    Contextual Factors Identified by EGAPP

    • Due to limited benefit to the colorectal cancer (CRC) patient, informed consent before microsatellite instability (MSI) or immunohistochemistry (IHC) testing is recommended.
    • There is no substantial evidence to show that identifying Lynch syndrome through routine genetic testing would lead to adverse psychological outcomes.
    • Evidence shows that there are relatively high levels of counseling and testing uptake among relatives and adherence to screening if patient is mutation positive.Top of Page

    Research Gaps Identified by EGAPP

    The EGAPP™ working group identified the need for research to address the following:

    • Better quality research regarding analytical validity of testing and laboratory proficiency testing;
    • Better quality studies evaluating clinical validity of various testing strategies;
    • Higher quality studies assessing clinical outcomes/clinical utility, effectiveness of screening;
    • Cost-effectiveness analyses to address testing strategies and impact on relatives
      (see More Considerations for Practice for additional information that is not part of the EGAPP™ recommendation);
    • Studies to assess whether the clinical care and screening of CRC patients with Lynch syndrome should be altered.

    For more information about genetic testing for Lynch syndrome that is not part of the EGAPP recommendation, see More About Genetic Testing for Lynch Syndrome.


My family history means I’m at risk of bowel cancer: Matt Dawson explains importance of regular screenings


Today from the Mirror Newspaper, By Claire Donnelly

My family history means I’m at risk of bowel cancer: Matt Dawson explains importance of regular screenings

When A Question of Sport ­captain Matt Dawson discovered he was at increased risk of developing bowel cancer he decided not to take any chances.


Risk: Matt's grandad died aged 60
Risk: Matt’s grandad died aged 60

The 39-year-old former England rugby player, who lives with wife Carolin and six-month-old son Alex, explains here why he goes for regular health ­screenings.

Because of where it is in the body, bowel ­cancer is one of those things people can get embarrassed talking to their doctor about.

Let’s face it, we all feel a bit ­apprehensive when we know we’ve got to drop our trousers for someone.

But because of what’s happened in my family and the things we’ve all been through, I realised it was something I couldn’t ignore.

Sadly my grandfather on my mum’s side died of bowel cancer when I was a teenager. He was only 60, but by the time it was discovered it was advanced.

So it was even more terrifying when my mum, Lois, 64, was diagnosed in 2007. She was still fairly young – like many people who suffer from bowel cancer she was in her 50s – and it was a very ­frightening experience.

It was actually quite difficult for her to get a diagnosis, even with the family history. She’d gone to the doctor because she had symptoms, but still had to push for a diagnosis so she could finally begin her treatment.

It must have been very hard for her to do that, especially after seeing her own dad being so ill, but she knew that something wasn’t right.

And because she also knew that bowel cancer is one of the more ­treatable cancers, she kept going back to her doctor. ­Thankfully she had surgery and treatment and has been well for five years now.

But because of that strong history – having two ‘first degree’ relatives ­diagnosed – it does mean I could be at more risk than others. I’m of the opinion that it’s always better to know if there’s something wrong, so about three years ago I decided to undergo screening.

It was quite full-on, a complete MOT for the body really, but I needed that peace of mind.

When you know you could be at risk it’s hard not to be anxious or even paranoid about it, but bowel cancer is treatable a lot of the time if it’s caught early enough.

Matt Dawson of the Lions breaks forward during the match between British and Irish Lions
Fit: Matt in his rugby days

For me it’s not about, ‘am I going to find out I’m ­terminally ill?’ it’s more, ‘can I nip something potentially very bad in the bud?’

So I had the whole screening, including a full MRI scan and fitness checks.

I was a bit nervous and it was a lot more comprehensive than I was expecting – they had me on the treadmill and looked at my eyes, ears, everything.

Yes, it was ­uncomfortable at times, but it was well worth it to have the reassurance that I was cancer-free – it means you can forget about it for a while.

I’m due for another screening and it’s something I’ll continue to do for the rest of my life.

It isn’t just about me. Being a dad has made me even more aware of the need to look after myself for my family’s sake.

Being in shape and eating ­healthily all help lower the risk of bowel cancer, too. So although I don’t train any more, I do some exercise most days, preferably outside.

I’ll jump on my bike, play golf or do some work at home or if the weather’s really bad I might head to the gym.

It’s about relaxing and feeling good. Like most rugby players I’ve had my fair share of injuries and undergone surgery on my knees, shoulder and neck, so I’m careful about how I push my body.

I was filming with my Question of Sport co-star Phil Tufnell last week, hadn’t warmed up properly and felt my ­hamstring twinge – that’s when you realise you’re getting older and need to be careful.

Eating well is important too, so I try to get my five a day. Since I won Celebrity MasterChef in 2006, everyone knows that I like my food. It’s important to me to prepare the right kinds of meals – full of flavour rather than salt, sugar or fat.

I’m not over the top about it and I enjoy everything in moderation, but if I make a bacon sandwich I’ll cut the fat off.

I don’t even think about it any more, it’s just become the way I do things.

Cooking is a great way to relax too. I’m not often ill but if I do feel a tickle in the back of my throat I’ll reach for the ­supplements – my partner introduced me to them – and it seems to do the trick.

Put it this way, I’m going to turn 40 at the end of this month and I’m not worried about it.

My 30s have been amazing for so many reasons. If my 40s are half as good – and healthy – I’ll be very happy.


The Family History of Bowel Cancer Registry

What is your family history?

What is your family history?

The Family History of Bowel Cancer Registry was founded in 2010. It has been a useful resource for hereditary and non-hereditary colorectal cancer research conducted at West Middlesex University Hospital. Our clinicians and researchers have utilised the information our registry provides for research on the causes of colorectal cancer. It helps to link our patients with their screening and surveillance programmes, and also in to local and national research projects such as the Cancer Research UK study CORGI (COloRectal Gene Identification Study). The registry also provides services to families, community health professionals, and the general public, including educational materials and programs on hereditary colorectal cancer syndromes, cancer genetics, and current research.

Family History of Bowel Cancer Registry;

  • Evaluation of family histories based on questionnaires and medical records
  • Genetic counseling
  • Recommendations regarding cancer management
  • Development and implementation of research studies
  • Provide information for patients and professionals about cancer genetics research
  • Referral of patients and service providers to community and hospital resources
  • Development of literature for use by public and private agencies and individual patients and their families

Conditions and Syndromes;

  • Family History of Cancer
  • Lynch Syndrome
  • Familial colorectal cancer syndrome-X
  • Familial adenomatous polyposis coli (FAP)
  • MUTYH-associated polyposis (MAP)
  • Peutz-Jeghers syndrome (PJS)
  • Juvenile polyposis
  • Hyperplastic polyposis syndrome (HPS)
  • Hereditary mixed polyposis syndrome (HMPS)
  • PTEN-mutation spectrum


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