Category: Monitoring
Constitutional MLH1 Methylation Is a Major Contributor to Mismatch Repair–Deficient, MLH1-Methylated Colorectal Cancer in Patients Aged 55 Years and Younger
“When patients with Lynch syndrome—whose first cancers generally appear at an early age—aren’t diagnosed promptly, they don’t get appropriate follow-up or surveillance. They can go on to have multiple different cancers before they are finally diagnosed. If we could identify them when they have their first cancer, we could prevent additional cancers—or at least detect them earlier,” said Megan Hitchins, PhD, director of Translational Genomics in the Department of Biomedical Sciences at Cedars-Sinai and lead author of the study.
Referral challenges for early-onset colorectal cancer: a qualitative study in UK primary care
Aim: To explore awareness of the increasing incidence of EOCRC, and to understand the potential barriers or facilitators faced by general practitioners (GPs) when referring younger adults to secondary care with features suspicious for EOCRC.
Results: Three main themes were identified regarding awareness, diagnostic and referral challenges amongst participating GPs. Awareness challenges focused on perceptions of EOCRC being solely associated with hereditary cancer syndromes and colorectal cancer being a condition of older adults. Key diagnostic challenges centred around the commonality of lower gastrointestinal complaints and overlap in EOCRC symptoms with benign conditions. Restrictions in age-based referral guidance and a GP ‘guilt complex’ surrounding over-referral to secondary care summarised the referral challenges. Young women were perceived as being particularly disadvantaged with regards to delays in diagnosis.
Conclusion: This novel research outlines potential reasons, from a GP perspective, for the diagnostic delays seen in patients with EOCRC and highlights many of the complicating factors that contribute to the diagnostic process.
https://pubmed.ncbi.nlm.nih.gov/37433643/ (Note 17 GPS involved)
A Safety and Efficacy Comparison of a New Sulfate-Based Tablet Bowel Preparation Versus a PEG and Ascorbate Comparator in Adult Subjects Undergoing Colonoscopy (2020)
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7864663/
(515 participants)
RESULTS:
A high rate of cleansing success was seen with OST(Oral sulfate tablets) (92%), which was noninferior to PEG-EA(Polyethylene glycol-electrolyte solution) (89%). Only a small proportion of subjects rated their expected gastrointestinal symptoms as severe (<5% for both preps). No clinically significant differences were seen between preps for chemistry and hematology parameters. No serious adverse experiences were reported with OST.
DISCUSSION:
Sulfate tablets achieved a high level of cleansing in the study, comparable with US FDA–approved preps. OST was noninferior to PEG-EA in this study and achieved significantly more Excellent preps overall and in the proximal colon. The OST prep was well-tolerated, with a similar rate of spontaneously reported adverse experiences to PEG-EA and a low rate of severe expected gastrointestinal symptoms.
Normal Human DNA Variation – Variant of Unknown Significance (VUS)
A short animation from Dr Sally Ann Lynch explaining Variants of Unknown Significance in medical genetics. (2018)
What is the Lynch syndrome registry? (England)
The Lynch syndrome registry records and analyses important information about people with Lynch syndrome.
This helps to understand how people with Lynch syndrome are looked after and cared for across England. All information is held on a secure and confidential computer database.
Why have a Lynch syndrome registry?
The registry will collect information from people with Lynch syndrome and help to better understand how these people are currently being monitored and managed.
The registry will ultimately be an efficient system that with the help of the bowel cancer screening programme will allow nationally coordinated care for you and others with Lynch syndrome.
It will also become a valuable central research resource that could be used to support other studies.
Lynch Syndrome Ireland: office assistant
Eddie argues….It’s a no brainer get tested…it could save you or your family members a lot of trouble in the future.
Lynch Syndrome and me: Leanne’s story
“There are two things I want people to know. Firstly, the understanding about LS at all the different touch points in the NHS is amazing. Secondly, having LS isn’t necessarily a bad thing. I have the MSH2 variant. It’s not great to know all the associated risks, but it gives me the opportunity to better both my and my family’s future chances. It’s a blessing in disguise to discover this.”
“When we found out, we spoke with other family members as I felt that I needed to let them know. Some of my relatives came forward and got themselves tested to see if they could make the same informed decisions; others didn’t.”
Having this knowledge has enabled me to make decisions about my life.
Mainstreaming. Cancer Test: Predisposition to cancer
Check out RTE Nine O Clock News…starts at 11.30 min. into programme.
https://www.rte.ie/player/series/rté-news-nine-o-clock/SI0000001468?epguid=IH10000961-23-0182
See recently launched National Hereditary Cancer Model of Care (NCCP)
Why do GPs need to know about Lynch syndrome?
Find out during
@kevinjmonahan‘s talk at
@PULSE365_Hub on 6 July. This virtual conference gives you a brilliant selection of talks to choose from – find out more: https://bit.ly/3qUTLnl#generalpractice#primarycare
Lynch Syndrome Ireland 