Who Is At Risk Of Lynch Syndrome?

Lynch syndrome is a genetic condition, it’s an autosomal dominant condition which occur due to mutations in certain genes. Therefore, there are no specific risk factors for Lynch syndrome because it’s a genetic condition & we cannot change the genes we inherit from our parents. But a person who has a family history of Lynch syndrome has an increased risk pf getting it more than the general population. Lynch syndrome also can occur due to acquired gene mutations, however, exact cause/risk factors has not been found, these theories are still at research level.

Who Is At Risk Of Lynch Syndrome?

  • Males & females are equally at risk of lynch syndrome
  • All ethnic groups & races are equally at risk of lynch syndrome
  • Individuals with DNA mismatch repair defect
  • Mutations in the MLH1, MSH2, MSH6, PMS2, & EPCAM genes increase the risk of developing Lynch Syndrome
  • Family history of Lynch syndrome increases the chance of getting Lynch syndrome as it is passed down from one generation to another. E.g. if one of your parents has Lynch syndrome there is a 50 percent chance of you getting the syndrome.
  • Family member/s on one side getting colorectal cancer before the age of 50, endometrial cancer, ovarian cancers & other cancers associated at a younger age suggest Lynch syndrome
  • Acquired gene mutations can occur with:
  • Age
  • Exposure to chemicals
  • Exposure to radiation
  • Hormones
  • Environmental factors

One thing you all should remember is having risk factors does not mean you will definitely get Lynch syndrome. Risk factors increase a person’s chance to get a specific disease compared to a person who does not have those risk factors. Also, not having a risk factor does not mean you will never get that disease.

If you have a family history of Lynch syndrome you should talk with your doctor about the exams you could to do confirm if you have Lynch syndrome or not. If you become positive for Lynch syndrome you should speak with your doctor & see what are the screening exams you could to detect cancers.

How Is Lynch Syndrome Diagnosed?

How Is Lynch Syndrome Diagnosed?

  • Blood exam to check if there are mutations in the MLH1, MSH2, MSH6, PMS2 & EPCAM genes.
  • Screening exam that can be done to screen for Lynch syndrome are:
  • MSI/Microsatellite instability exam
  • IHC/Immunohistochemistry exam
  • According to the results of the screening exams, more specific exams can be done to diagnose Lynch syndrome.
  • Cancer Screening Exam For Lynch Syndrome

The following screening exams are recommended for people who are have Lynch syndrome, however you should consult your doctor & talk with him about the exam you will need for cancer screening.

  • Upper gastrointestinal endoscopy every 3 to 5 years, also check for Helicobacter pylori infection & if positive treatment should be commenced.
  • Screening for females. Yearly pelvic ultrasound,pelvic examination, endometrial biopsy from the age 30 – 35. Women who have completed their family can consider preventive procedure to remove the uterus & ovary to prevent uterine & ovarian cancers as screening for these cancers has not proven effective.

Summary

Lynch syndrome does not have specific risk factors as this is an inherited genetic condition. Males & females affected equally, all ethnic groups & races affected equally, identifiable risk factors are individuals with DNA mismatch repair defect, mutations in the MLH1, MSH2, MSH6, PMS2, & EPCAM genes, family history of Lynch syndrome, family member/s on one side getting colorectal cancer before the age of 50, endometrial cancer, ovarian cancers & other cancers associated at a younger age suggest Lynch syndrome. Acquired gene mutations can occur with age, exposure to chemicals, exposure to radiation, hormones, & environmental factors. Lynch syndrome should be confirmed by blood exam & if positive screening exam to detect cancers should be carried out.

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