Category: Colon
Lynch Syndrome
Individuals with Lynch syndrome can reduce their risk for Colorectal cancer by:
1. Taking daily aspirin (exact dose & duration TBD).
2. Getting colonoscopy every 1-2 y starting at age 20-25 for MLH1/MSH2 & every 1-3y starting at age 30-35 for MSH6/PMS2.
Early-Onset Colorectal Cancer (EOCRC)
Patients with EOCRC have a higher relative prevalence of inherited predisposition to cancer, with Lynch syndrome being the most common cause.
Colorectal cancer in younger people
Similar factors increase the risk of early-onset colorectal cancer (EOCRC) and later-onset colorectal cancer (LOCRC), such as a sedentary lifestyle, obesity, and metabolic syndrome, but there are also important differences. EOCRC predominantly occurs on the left side of the colon and the rectum, whereas LOCRC arises more commonly on the right side of the colon. EOCRC is also more poorly differentiated and often metastatic at diagnosis.
Research is urgently needed to understand the increasing incidence of EOCRC and its pathophysiology to better detect and treat patients.
Constitutional (germline) vs Somatic (tumour) variants
Constitutional (also known as germline) variants are present in all the body’s cells, including the germ cells, and can therefore be passed on to offspring; somatic variants arise during an individual’s lifetime in tissues other than the germ cells and so are not passed on.
The identification of a germline variant in a mismatch repair (MMR) gene in a patient with colorectal cancer has implications for the clinical management of the current cancer and the patient’s future cancer risk. It should also trigger cascade screening in the wider family.
(Cascade testing is the process of informing family members of a genetic condition discovered within the family, followed by family members getting tested for the condition.)
Lynch Syndrome
Lynch Syndrome
A Guide for Patients and Their Families
Lynch Syndrome is associated with a higher-than-normal chance of developing certain types of cancer before the age of 50.
What does it mean to live with Lynch Syndrome?
Delphi Initiative for Early-Onset Colorectal Cancer (DIRECt) International Management Guidelines
Conclusions
The DIRECt group produced the first consensus recommendations on eoCRC. All statements should be considered together with the accompanying comments and literature reviews. We highlighted areas where research should be prioritized. These guidelines represent a useful tool for clinicians caring for patients with eoCRC.
Results
The DIRECt consensus produced 31 recommendations for patients diagnosed with eoCRC ≥18 years old based on 145 articles (summarized in Supplementary Appendices 2–7). When appropriate, issues related to colon or rectal cancers specifically are highlighted; in cases where statements applied to both colon and rectal cancer, the term colorectal cancer (CRC) was used.
All statements are summarized in Table 2, Table 3, Table 4(Table 2: diagnosis, risk factors, and genetics; Table 3: pathology, oncology; Table 4: endoscopic diagnosis and treatment, therapy, and supportive care). Areas of controversy are described throughout the main text and summarized in Table 5.
Roberta
I’ve been given the gift of information,while it can be physically & emotionally taxing, I can take steps to ensure colorectal cancer doesn’t end my life.I can help others have the courage to get tested & go for screening if they notice a change.
When asked what she wanted people to take away from her contribution to the Marie Keating Foundation’s #JoinTheBowelMovement campaign this April, Roberta’s message was simple.
“Firstly, get to know your family history and the signs and symptoms of bowel cancer. Secondly, if you are experiencing symptoms but don’t fit the idea in your mind of “what a bowel cancer patient is”, speak to your GP about it anyway. And finally, if you’re eligible, go for BowelScreen. It’s so much easier to prevent than to cure, so if you were to take something away from my story, I would want it to be that.”
Immunotherapy and… Nothing Else? Studies Test Potential Paradigm Shift in Cancer Treatment
The leaders of those trials and other experts stressed that much more research is needed before this treatment approach becomes part of everyday cancer care. But they agreed that the findings so far are highly encouraging.
The most recent results come from a 35-patient clinical trial conducted at MD Anderson Cancer Center. Most patients in the trial had locally advanced colorectal cancer. Perhaps most important, however, was that all participants’ tumors had specific genetic changes—known as MSI-high or dMMR—that make them particularly good candidates for immunotherapy.
Understanding MSI-High and DNA Mismatch Repair (dMMR)
MSI-H and Lynch Syndrome
Microsatellite instability which is caused by deficiency of the DNA MMR system is the molecular abnormality observed in tumors associated with Lynch syndrome. Lynch syndrome represents one of the most frequent conditions of cancer predisposition in human, thus requiring specific care and genetic counseling.
Detection of MSI is important because MSI is the biomarker that identifies cancers more likely to respond to treatment with precision cancer medicines known as PD-1 immune checkpoint inhibitors.
https://news.cancerconnect.com/colon-cancer/understanding-msi-high-and-dna-mismatch-repair
Lynch Syndrome Ireland 