It is estimated that around 1 out of every 125 people are at risk of Lynch syndrome.
However, it’s thought 95% of the carriers of these Lynch Syndrome mutations are unaware that they are at risk.
Author: Lynch Syndrome Ireland
£2 million awarded to Newcastle scientists rolling out new cancer screening method
A team of scientists in Newcastle have been awarded £2 million by NHS England, to roll out a new method of screening for cancer. Sir John and his colleagues, including Ms Rachel Phelps, a research PhD student in the Cancer Research UK-funded Cancer Prevention Group at Newcastle University, redesigned the Newcastle MSI-Plus Assay.
This has recently become the standard test in North East England to find people with LS among those diagnosed with bowel cancer. MSI, which stands for microsatellite instability, shows that an important DNA repair system isn’t working. Most LS patients are in this group. The test is being evaluated for national rollout.
People with Lynch Syndrome can benefit from screening programmes that enable cancers to be found at an early stage when they can be cured. LS carriers are at high risk of cancers of the bowel and womb, and screening is available for these using colonoscopy for the large bowel and ultrasound for the womb. Unfortunately, the urinary tract has been ignored because there are currently no cheap, non-invasive screening methods that can reliably detect tumours here. Cancer of the upper urinary tract is the third most common cancer associated with LS.
“This test can be carried out at low cost and in high numbers. It will help to identify thousands of cancers earlier, when it is easier to treat, giving a much more positive outcome for patients and families.”
If a person with cancer is detected as having Lynch syndrome, a DNA test can then be offered to their relatives to see who else has the condition, so that they can then be put on a regular programme of checks.
Cancer Moonshot Blue Ribbon Panel (2016-USA)
The report describes a set of consequential recommendations for accelerating cancer research to achieve the ambitious goal of making a decade’s worth of cancer research progress in five years and to bring the most promising science and clinical developments to all cancer patients in the near term. https://www.cancer.gov/research/key-initiatives/moonshot-cancer-initiative/blue-ribbon-panel/blue-ribbon-panel-report-2016.pdf
G. Prevention and Early Detection: Implementation of Evidence-Based Approaches: “Currently, there is a need for nationwide efforts to identify individuals with hereditary cancer syndromes, and to determine and implement optimal intervention strategies, such as earlier cancer screenings, that would reduce the risk of developing malignant disease. For example, in the case of LS, which leads to increased risk of colorectal and endometrial cancers as well as other malignancies, tumor testing is recommended for all individuals with CRC; however, fewer than 5% receive this screening, representing a missed opportunity to identify individuals and family members who may have inherited a substantially higher cancer risk.“
thisisGO.ie
thisisGO.ie is an online personalised resource for you and your partner who have been impacted by a gynaecological cancer.
Gynaecological cancers refer to any cancer of the female reproductive system which includes the uterus (womb), the ovaries, the cervix (the neck of the womb), the vulva (the outer part of the female genitals) or the vagina.
Patient and public involvement throughout the project. An Irish resource for an Irish audience.
Lynch Syndrome: A Common Yet Under-Recognized Hereditary Cancer Predisposition
Lynch syndrome is the most common inherited predisposition to colorectal and endometrial (uterine) cancers, yet is it under-diagnosed. Around 90-95% of people who have Lynch syndrome are not aware of their condition. This is a major concern because many of the cancers associated with Lynch syndrome are preventable or could be detected earlier through intensive cancer surveillance. Identifying patients with Lynch syndrome also helps with testing other members of their family who may be at risk and helps ensure access to care for patients who have high risks for cancer.
DELPHI study
Have you been diagnosed with Lynch syndrome?
The Diagnosis and Management of Lynch Syndrome Guideline Patient Companion (AGA)
Constitutional Mismatch Repair Deficiency Syndrome (CMMRD)
Most people have two working copies of each of the MMR genes in their cells. One copy is inherited from the mother and one from the father. A change in the gene that causes it to not work properly is called a mutation. When someone inherits an MMR gene mutation from the mother and another mutation in the same MMR gene from the father, they have constitutional mismatch repair deficiency syndrome. In other words, this person has a mutation affecting each of the 2 copies of an MMR gene.
Immunotherapy and colorectal cancer: Where we are and what’s ahead….
“To the immune system, foreign pathogens look very different from normal cells. But the difference with cancer cells isn’t as clear – except in microsatellite instability -high disease.
“Patients with MSI-high colorectal cancer are more likely to have their immune systems detect the tumors are different from normal tissue,” Kopetz says.
This helps lay the groundwork for immunotherapy to be effective. “The good news is the immune cells often recognize the cancer cells as different,” Kopetz says. “The barrier is the checkpoints – or the signals – that the tumor cells put on their surface to prevent the immune cells from attacking.”
This is where immune checkpoint inhibitors come in. They block the signal from the tumor cells that prevents the T cells from doing their work.
Unfortunately, only 3% of patients with metastatic colorectal cancer have MSI-high disease.
“It’s very low,” Kopetz says. “But for the first time, there’s a subset of patients where we can say, ‘Despite having metastatic disease, we can cure you with immunotherapy.’” He says that hasn’t been possible with chemotherapy and targeted therapies.
Lynch Syndrome Ireland 