rs63750871(T;T)
From SNPedia
| predisposition for mismatch repair cancer syndrome? |
| Is a | genotype |
| of | rs63750871 |
| Gene | PMS2 |
| Chromosome | 7 |
| Position | 6,002,590 |
| mentioned | by |
| Magnitude | 6 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 6 | Lynch syndrome |
| (C;C) | 0 | common in clinvar |
| (C;T) | 4 | predisposition for mismatch repair cancer syndrome? |
| (T;T) | 6 | predisposition for mismatch repair cancer syndrome? |
see discussion at rs63750871
This is a genotype with recommended actions if clinically confirmed. In brief:
- More frequent and more intensive screening for colon, endometrial, gastric (stomach) and urinary tract cancers is recommended starting at age 20-25 (but recommendations vary depending on cancer type, gender and age).
- Prophylactic surgery (e.g. hysterectomy or salpingo-oophorectomy) has been shown to substantially reduce the risk for, as well as mortality from, Lynch syndrome (LS)-associated endometrial or ovarian cancer and is an option especially for mutation carriers over age 35-40.
- Regular aspirin use significantly (by ~60%) reduces LS cancer incidence.
- Avoid smoking and being overweight.
- Relatives should have genetic testing to identify non-carriers (who can then avoid additional screening). Otherwise, first degree relatives are recommended to have a colonoscopy every 18 months starting at age 25 and esophagogastroduodenoscopy twice yearly starting at age 50.
The full ClinGen Actionability report about Lynch Syndrome can be found here.
Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.
