Tag: cancer

Why biomarkers matter

Your biomarker profile can help you and your doctor personalise your treatment.

Biomarkers for colorectal cancer are used for diagnosis, progression, prognosis, and for treatment planning.

MSI-H and MSS biomarkers indicate the stability of the DNA in a tumour.

Colorectal cancer tumours are often referred to as having an “MSI status,” meaning they are described as either MSI (microsatellite instable) or MSS (microsatellite stable). They cannot be both.

What does an abnormal MSI-H level mean?

Approximately 15% of colorectal tumours are MSI-H and dMMR.

In most of these cases, the mutation was caused by a non-hereditary(somatic) gene abnormality in one of the MMR genes (MLH1, MSH2, MSH6, or PMS2) in a cancer cell.

In 3-5% of colorectal patients, dMMR and MSI-H are caused by Lynch syndrome. In these patients, a hereditary mutation (germline mutation) in one of the four main MMR genes is passed from one generation to another. Individuals with Lynch syndrome are at higher risk of developing colorectal, endometrial (uterine), gastric, ovarian, and other cancers.

https://colorectalcancer.org/treatment/types-treatment/why-biomarkers-matter?fbclid=IwY2xjawGS4ZdleHRuA2FlbQIxMAABHbYOX7PocmBtDNPHc2xa9sZkA9PksceERIsPMZvOxLKfG4JN-vr7soOjmw_aem_irNH19G4iH7a4SZxGpm4Wg

Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG)

2019: A systematic review of 10 189 publications was undertaken to develop 67 evidence and expert opinion-based recommendations for the management of hereditary CRC risk. Ten research recommendations are also prioritised to inform clinical management of people at hereditary CRC risk.

Objective:

To provide a clear strategy for the management of people at hereditary risk of colorectal cancer (CRC), which includes diagnosis, endoscopic management, prevention and surgical care.

Lynch syndrome (LS)

  • We recommend that for all people when first diagnosed with CRC, testing using immunohistochemistry (IHC) for MMR proteins or microsatellite instability is used to identify tumours with deficient DNA MMR, and to guide further sequential testing for LS. (GRADE of evidence: moderate; Strength of recommendation: strong)
  • We recommend that colonoscopic surveillance should be performed at a 2 yearly interval for all LS patients. (GRADE of evidence: moderate; Strength of recommendation: strong)
  • We recommend that age of onset of surveillance colonoscopy should be stratified according to the LS-associated gene. We recommend colonoscopy from age 25 years for MLH1 and MSH2 mutation carriers and 35 years for MSH6 and PMS2mutation carriers. There are insufficient data to support stratifying age of onset of surveillance by gender. (GRADE of evidence: moderate; Strength of recommendation: strong)
  • We suggest that for LS patients with MLH1 or MSH2 mutations who develop colon cancer or colonic neoplasia not amenable to endoscopic control, the decision to perform segmental versus total/near total colectomy should balance the risks of metachronous cancer, the functional consequences of surgery, the patient’s age and patient’s wishes. (GRADE of evidence: Moderate; Strength of recommendation: strong)
  • We recommend that for LS patients with MSH6 or PMS2 mutations there is insufficient evidence for oncological benefit of extended colectomy over segmental resection. (GRADE of evidence: low; Strength of recommendation: strong)
  • We suggest that when abdominal-perineal excision can be avoided, a standard low anterior resection is a reasonable option to treat rectal cancers in LS patients, even though the residual colon is at high-risk of metachronous neoplasia. (GRADE of evidence: low; Strength of recommendation: weak)
  • We recommend that gastric, small bowel, or pancreatic surveillance in LS patients is only performed in the context of a clinical trial. (GRADE of evidence: low; Strength of recommendation: strong)
  • We recommend screening for H elicobacter pylori in patients with LS and subsequent eradication therapy if indicated. (GRADE of evidence: low; Strength of recommendation: strong)

https://gut.bmj.com/content/69/3/411#article-bottom

“For many cancers, Ireland is now 1-2 standard-of-care innovations in cancer treatment behind international comparators”

It seems to me that this headline quotation from Prof Barry of the @INFO_NCPE likely has taken him out of context in relation to Anti-Cancer Drugs.

Let me try to help make sense of this:

1. The only public funding that has gone into anti-cancer drug discovery and development that I am aware of over the past 10 years in Ireland, is funding to commercialise academic discoveries. The commercialisation of drug discovery and development is a strategic, deliberate government policy.

2. When a commercial company is successful in demonstrating that a drug improves cancer outcomes, these companies are legally obliged to maximise profit for the company’s shareholders (as far as I understand, maybe I’m wrong here).

3. The rate at which new anti-cancer drugs that objectively improve cancer outcomes achieve regulatory approval (by the EMA or FDA) is accelerating.

4. To continue to offer to public cancer patients the international standard of care (eg NCCN or ESMO recommended) anti-cancer therapies is by definition going to cost public cancer care providers more money. This is how the whole system is deliberately designed.

5. EMA approval does not guarantee an impact on the “standard of care”. For an oncologist to prescribe any high cost anti-cancer therapy in public hospitals in Ireland, first, the pharmaceutical company must apply to the @HSELive to have their drug reimbursed. Many companies do not even apply. Next, they must commit to a reimbursement process that takes 2-3 years, with no guarantee of a successful reimbursement outcome.

6. As long as I have worked for the HSE, the prescribing options available to public Medical Oncologists have been robustly restricted to drugs that have been approved through this reimbursement process.

7. No public consultant has the authority or ability within the existing system to ‘authorise’ expenditure for any high cost anti-cancer drug by signing a prescription, unless the HSE has explicitly authorised this prescription. The authorisation status is publicly available here: https://hse.ie/eng/services/list/5/cancer/profinfo/chemoprotocols/

8. If I tried to prescribe a high cost anti cancer drug that hadn’t been through the HSEs reimbursement process, it would not make it past the hospital pharmacist. In any publicly funded hospital.

9. For many cancers, Ireland is now 1-2 standard-of-care innovations in cancer treatment behind international comparators. In other words, for a long time now, the HSE has had total control over what a consultant oncologist can prescribe within the HSE. The problem is that the approval of emerging therapies is too slow, and not keeping pace with international standards, or with the private healthcare sector in Ireland.

@IMT_latest @med_indonews @hseNCCP @OECI_EEIG @IrishCancerSoc @INFO_NCPE

Colorectal cancer starts in the colon or the rectum. These cancers can also be called colon cancer or rectal cancer, depending on where they start. Colon cancer and rectal cancer are often grouped together because they have many features in common.

This article covers:

How do the colon and rectum work?

How does colorectal cancer start?

Polyps in the colon or rectum

How colorectal cancer spreads

Types of cancer in the colon and rectum

Be aware of signs and symptoms

It’s important for everyone to be aware of any changes in your body that are not normal for you, especially if you have an increased risk due to Lynch syndrome. Always get any changes checked by your GP, even if you have had a screening test or are due one soon.

https://www.cancer.org/cancer/types/colon-rectal-cancer/about/what-is-colorectal-cancer.html

https://www.cancer.ie/cancer-information-and-support/cancer-information/about-cancer/causes-of-cancer/cancer-and-genes/lynch-syndrome

Living Beyond the Diagnosis: Lynch Syndrome Awareness

My paternal family medical history is marked with early-onset colorectal cancer. Learning about my genetic status was a life-changing experience. The discovery that my condition was hereditary meant that my family members, including my son, could also be at risk. Certified genetic counseling played a crucial role in my journey, helping me comprehend the significance of genetic testing and how to manage my health moving forward. 

If you meet one or more of the red flags below, I urge you to consult with your doctor and a certified genetic counsellor: 

  • Family member with a confirmed diagnosis of Lynch syndrome 
  • Colorectal and endometrial cancer diagnosis at any age, particularly after pathology testing shows alterations related to Lynch syndrome
  • Multiple primary cancer diagnoses
  • Several family members have had cancers related to Lynch syndrome.

Despite the challenges, living with Lynch syndrome has empowered me to make informed health choices, advocate for better healthcare, and support others, striving for a healthy, fulfilling life.

https://www.ihadcancer.com/living-beyond-the-diagnosis-lynch-syndrome-awareness

One test to detect multiple cancers – where are we now?

Most cancers diagnosed at an earlier stage have a better prognosis. Detecting and diagnosing cancer earlier can mean there are more treatment options for patients and, ultimately, can help people survive cancer and lead longer, better lives.  

What are multi-cancer tests?

As described above, an MCT is a tool that searches for multiple cancers in one sample, typically blood, urine, breath, or stool. All MCTs share some similarities, but the ways they identify cancers can be slightly different.  

MCEDs(multi-cancer earlier detection tests) could completely change what cancer screening looks like by making it possible to screen for multiple cancers with one test. MCEDs could also allow us to screen for cancers that aren’t covered by individual screening programmes, including less common cancers. That means MCEDs could be a more efficient way to find more types of cancer earlier, when they are more curable, helping people live longer, better lives. 

https://news.cancerresearchuk.org/2024/06/12/multi-cancer-tests-mced-tests-where-are-we-now/

What increases my risk of uterine (womb) cancer?

The cause of uterine (womb) cancer is unknown. But there are certain things called risk factors that can increase your chance of developing the disease. These include:

  • Age: It is more common in women after the menopause between the ages of 50 and 64.
  • Being overweight: If you are overweight, your risk of uterine cancer is increased.
  • Hormone replacement therapy (HRT): If you are taking oestrogen-only HRT for a long time after the menopause, your risk of uterine cancer is slightly increased.
  • Family history: Family history of uterine cancer in a first degree relative (mother, sister, daughter). If you have an inherited faulty gene, it raises your risk of developing uterine or bowel cancer. In a small number of families, this faulty gene can cause a condition called Lynch Syndrome .
  • No pregnancies: If you have not had children or never been pregnant, your risk of uterine cancer is increased.
  • Polycystic ovaries: If you have polycystic ovaries, your risk is increased. This is a condition where cysts grow in the ovaries.
  • Menstrual history: If your started your periods early in life and / or started your menopause later, your risk is higher. 

https://www.cancer.ie/cancer-information-and-support/cancer-types/uterine-womb-cancer/what-increases-my-risk-of-uterine-womb-cancer