This episode is the first in a series featuring former CGA-IGC research grant recipients.Features Dr. Allison Burton-Chase, MD from the Albany College of Pharmacy and Health Sciences. Dr. Burton-Chase was the first recipient of the CGA-IGC research grant in 2014 for her work entitled “Factors Impacting the Decision of an Individual with Lynch Syndrome to Terminate a Health Care Provider Relationship”.
The majority of patients who terminated their patient-provider relationships did so due to negative interactions, such as the provider having a lack of Lynch syndrome-specific knowledge or not being open to improving their knowledge on Lynch syndrome.
Recently, the cases of colorectal cancers has been rising in younger age (<50) individuals. Although current guidelines recommend colorectal cancer screening should be initiated at age 45 instead of 50, the optimal approach of colorectal cancer screening is not clear.
This article investigates the efficacy of fecal immunochemical test (FIT), which detects occult blood in stool, in predicting advanced colorectal polyps and tumors among people aged 40–49.
The findings suggest FIT is useful to identify such people with high risk to have advanced colorectal lesions. Hence, FIT may be considered as the first-line screening tool for these people, and further comparative study between FIT and colonoscopy will be of great value.
The detection rate of ACRN(advanced) and CRC based on FITs in individuals aged 40–49 years is acceptable, and the yield of ACRN might be similar between individuals aged 45–49 and 50–59 years. Further comparative and cost-effective analysis of colonoscopies is mandatory to guide its use in EOCRC screening.
A colonoscopy is the gold standard test in the United States for colon cancer screening, but there are other tests available. Some of these include:
- Fecal immunochemical test (FIT):
- Stool FIT/DNA test:
- Virtual colonoscopy:
Watch out for these colon cancer symptoms
If you experience blood in your stool, abdominal pain or a change in bowel habits, see your doctor right away. These could be the first symptoms of colon cancer.
“The most common symptom of colon cancer is no symptom at all, until late-stage colon cancer,”
“Being proactive with my daily health has been important throughout my Lynch journey. Taking control of my health by exercising, maintaining my weight and eating well is essential and helps me feel like I can control some aspects of my life. “
“Living with Lynch syndrome can be challenging, but prioritising self-care, seeking professional support, connecting with others, and practicing mindfulness and stress reduction techniques have helped me manage the emotional impact of this condition.”
Immunotherapy represents a new paradigm in cancer care. It’s really an entirely new mechanism for treating cancer. We’re not targeting the tumor cells; instead, we’re targeting the immune system.
I encourage patients to talk with their physicians about innovative treatment options and consider participating in clinical trials so we can move the field forward. Together, we can unlock the promise of immunotherapy.
Social media are not neutral: their governance and structure impact how and what content is shared on them.
Research has shown that a range of ‘platform mechanisms’ increasingly influences the way stories are told, information circulated and connections made online.
Yet, little is known about how platforms’ privacy settings and users’ awareness of them influence which personal narratives (e.g., harrowing, heartening) are more likely to be posted online in relation to genetic conditions.
A new guideline around faecal immunochemical testing (FIT) in patients with signs or symptoms of suspected colorectal cancer (CRC). NHS England has subsequently written to all GP practices in England recommending they implement this guideline ‘in full’.
Symptoms alone have a poor sensitivity for CRC, meaning a high volume of secondary care investigations are required to detect cases if symptom-based criteria alone guide referrals. Endoscopy services in the UK have been struggling to keep up with referral demands, and waiting times for a colonoscopy lengthened during the COVID-19 pandemic. It is in this context that the role of FIT has been recently evaluated, to determine whether it can safely triage referrals and better identify high-risk patients than symptoms and non-specific blood tests alone.
FIT offers a non-invasive, community-based opportunity to help improve triage of the large number of patients seen in primary care with lower GI symptoms. Patients with a negative FIT, particularly in the context of a normal examination and other investigations, are low risk and may be managed in primary care if symptoms resolve. However, CRC pathways must permit the referral of people with a negative FIT and persistent and concerning symptoms or rectal bleeding for urgent assessment.
The results of germline testing for LS can be complicated and the diagnostic pathway is not always clear. Furthermore, by testing only those with cancer for LS we fail to identify these individuals before they develop potentially fatal pathology.
Given the benefits to discovering that someone has LS, not just for the patient but for their immediate family members, it is expected that most people would welcome genetic testing for LS. In fact, there is good number of studies that suggest that hypothetically there is a high interest in finding out this information.By contrast, there are good reports that show that there is a high number of people that decline testing.
In summary, LS care has come a long way over the last twenty years. We now understand the individual cancer risk to inform consent, tests to accurately diagnoses LS and ways by which we can reduce cancer risk. However, more needs to be done to find those who are undiagnosed, develop less invasive cancer surveillance methods and develop new vaccinations and treatments.
A personalised approach to lifelong gene-specific management for people with LS provides many opportunities for cancer prevention and treatment.
What surveillance should these patients undergo?
- Colonoscopic surveillance should be performed every 2 years starting at age 25 years for MLH1, or MSH2 pathogenic variant carriers, or age 35 years for MSH6, or PMS2 pathogenic variant carriers.
- Endoscopic lesions can be difficult to recognise due to a high frequency of flat non-polypoid morphology, and high-quality colonoscopy is essential.
- Gynaecological surveillance has no proven benefit.
- Aspirin reduces long-term colorectal cancer (CRC) risk by approximately 50%. Recommended doses include 150 mg ODonce daily or 300 mg ODonce daily for patients with BMIbody mass index >30.
What surgical treatments are recommended?
- Women should be counselled on prophylactic hysterectomy and bilateral salpingo-oopherectomy from age 40 years (MLH1, MSH2 and MSH6 variant carriers).
- There is a gene-specific approach to surgical management of CRC which takes in to account other patient factors.
What systemic oncological treatments are recommended?
- Chemoprophylaxis with daily aspirin for at least 2 years is recommended in patients <70 years old diagnosed with LS to reduce long-term CRC risk.
- Personalised systemic anticancer therapy is feasible for locally advanced or metastatic disease associated with LS, and may respond very well to relatively novel checkpoint inhibition immunotherapy.