Category: Monitoring

Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment:

A report from the prospective Lynch syndrome database: The PLSD(www.PLSD.eu) is a prospective observational study without a control group that was designed in 2012 and updated up to October 2022. Data for 8500 carriers of path_MMR variants from 25 countries were included, providing 71,713 years of follow up.

Interpretation

The current study found low CRC mortality in path_MMR carriers who receive colonoscopy surveillance while some extracolonic cancers were associated with high mortality. Further improvement of survival in LS may require a focus on the prevention and treatment of non-colorectal cancers, likely including approaches based upon the immune response to MSI pre-cancerous lesions and cancers.

https://www.thelancet.com/journals/eclinm/article/PIIS2589-5370(23)00086-X/fulltext#secsectitle0095

Do people with hereditary cancer syndromes inform their at-risk relatives?

Conclusion: Nearly one-third of at-risk relatives remain uninformed of their risk of carrying a cancer-associated pathogenic variant. Even among those informed, fewer than half subsequently complete genetic testing, representing a critical missed opportunity for precision cancer prevention.

Innovation: Five studies evaluating interventions to improve disclosure rates were generally ineffective. Urgent work is needed to elucidate barriers to relative disclosure by probands (a person serving as the starting point for the genetic study of a family) to develop targeted interventions that can optimize proband-mediated cascade genetic testing rates.

https://pubmed.ncbi.nlm.nih.gov/37214514/

Know Your Biomarker

The Know Your Biomarker Advocacy Toolkit was created to help you join the global effort to ensure all colorectal cancer patients have access to biomarker testing.

Biomarkers and biomarker testing are a fundamental part of precision medicine for colorectal cancer. Biomarkers provide vital information used to determine prognosis and risk of recurrence, guide treatment decisions, evaluate treatment response, and monitor for recurrence after treatment. Biomarker testing can help assess the need for adjuvant chemotherapy after surgery.

We have information about

• what a biomarker is
• how biomarkers are used in colorectal cancer care
• who should have biomarker testing

• specific colorectal cancer biomarkers  • the impact each biomarker can have on treatment

Click to access 642b703e9c2fbf4fa796923a_KYB_AdvocacyToolkit_040323.pdf

What Are the Early Signs of Colorectal Cancer in Young Adults?

The study, which was published in the Journal of the National Cancer Institute, found that there are four symptoms that can be early warning signs for colorectal cancer:

  • Abdominal pain
  • Rectal bleeding
  • Ongoing diarrhea
  • Iron deficiency anemia

According to the study, these symptoms appeared at least two years before a colorectal cancer diagnosis.

https://www.verywellhealth.com/4-early-symptoms-of-colon-cancer-7496596?utm_source=twitter&utm_medium=social&utm_campaign=shareurlbuttons via @verywell

What is MY Cancer Risk? Lynch Syndrome Explained: And How to Get Tested

To better understand Lynch syndrome and how to test for it early, we sat down with Dr. Michael Hall, a medical oncologist at Fox Chase Cancer Center. In this conversation, he discusses Lynch syndrome, what cancers patients would be more at risk for, and who should get tested.

Care after premenopausal risk-reducing salpingo-oophorectomy in high-risk women: Scoping review and international consensus recommendations

CONCLUSIONS

Despite the efficacy of premenopausal RRSO for reducing ovarian cancer risk and improving mortality in high-risk women, many women experience troublesome menopausal symptoms and oophorectomy may have adverse implications for long-term health.

Our panel of international experts has developed evidence-based recommendations for managing vasomotor, sleep, mood, sexual, and genitourinary symptoms and optimising bone and cardiovascular long-term health. Emerging evidence suggests that HRT reduces but does not eliminate the adverse effects of premenopausal oophorectomy. Women and clinicians considering RRSO should be aware of these risks and clinical care should focus on available safe options for symptom management and optimisation of long-term health.

https://obgyn.onlinelibrary.wiley.com/doi/full/10.1111/1471-0528.17511

Is There a Lynch Syndrome Vaccine on the Way?

Lynch Syndrome, a genetic condition affecting around 1 million Americans annually, increases a person’s risk of developing colorectal cancer (CRC) to 20% – 80%.

As a result, Lynch Syndrome patients must complete yearly preventive screenings. However, developing a Lynch Syndrome vaccine could change the narrative for patients, reducing screenings and – more importantly – lowering risks for Lynch Syndrome-related cancers. 

“The advances in vaccine technologies, such as Lynch Syndrome, is a promising field of research that has the potential to reduce the risk of developing cancer, thereby preventing disease and modifying surveillance regimens for high-risk patients,” said David Fenstermacher, Senior Director of Research & Medical Affairs at the Colorectal Cancer Alliance.

https://www.ccalliance.org/blog/research/is-there-lynch-syndrome-vaccine

Carpe Diem A Little Harder After a Skin Cancer Scare

“…this lesion was positive for “the ugly duckling” sign as it was significantly darker than my other moles”

https://www2.curetoday.com/view/carpe-diem-a-little-harder-after-a-skin-cancer-scare

Lynch Syndrome

Key Points

  •  Lynch syndrome is a rare, inherited condition that increases your risk of developing bowel cancer and sometimes other cancers. 
  • Lynch Syndrome accounts for about 3% of all bowel cancer.  
  • Regular bowel screening by colonoscopy can prevent bowel cancers developing.  
  • Bowel Screening usually starts from the age of 25 years and is performed on a yearly basis.  
  • People with Lynch Syndrome are also at increased risk of developing certain other cancers such as uterine (womb), urinary tract, ovary and small bowel.  
  • Women should consider screening of the uterus and ovaries from the age of 30-35 years.  
  • Genetic testing is available for families with this syndrome.  
  • When you have Lynch Syndrome, each of your children have a 1 in 2 (50%) chance of inheriting it.  

https://www.nzfgcs.co.nz/Syndromes/Lynch-Syndrome

Bowel Cancer Awareness Month

Very powerful sharing from Roberta. I think Genetic Counsellors everywhere will feel humbled that your experience was empowering & led to the correct diagnosis.

Highlights how important their role is, how families should know their cancer history & have the correct screening.