Back to Search
Start Over
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
- Source :
-
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Apr; Vol. 23 (4), pp. 705-712. Date of Electronic Publication: 2020 Dec 01. - Publication Year :
- 2021
-
Abstract
- Purpose: To determine impact of risk-reducing hysterectomy and bilateral salpingo-oophorectomy (BSO) on gynecological cancer incidence and death in heterozygotes of pathogenic MMR (path&#95;MMR) variants.<br />Methods: The Prospective Lynch Syndrome Database was used to investigate the effects of gynecological risk-reducing surgery (RRS) at different ages.<br />Results: Risk-reducing hysterectomy at 25 years of age prevents endometrial cancer before 50 years in 15%, 18%, 13%, and 0% of path&#95;MLH1, path&#95;MSH2, path&#95;MSH6, and path&#95;PMS2 heterozygotes and death in 2%, 2%, 1%, and 0%, respectively. Risk-reducing BSO at 25 years of age prevents ovarian cancer before 50 years in 6%, 11%, 2%, and 0% and death in 1%, 2%, 0%, and 0%, respectively. Risk-reducing hysterectomy at 40 years prevents endometrial cancer by 50 years in 13%, 16%, 11%, and 0% and death in 1%, 2%, 1%, and 0%, respectively. BSO at 40 years prevents ovarian cancer before 50 years in 4%, 8%, 0%, and 0%, and death in 1%, 1%, 0%, and 0%, respectively.<br />Conclusion: Little benefit is gained by performing RRS before 40 years of age and premenopausal BSO in path&#95;MSH6 and path&#95;PMS2 heterozygotes has no measurable benefit for mortality. These findings may aid decision making for women with LS who are considering RRS.
- Subjects :
- DNA Mismatch Repair genetics
Female
Heterozygote
Humans
Hysterectomy
Middle Aged
Mismatch Repair Endonuclease PMS2 genetics
MutL Protein Homolog 1 genetics
Prospective Studies
Salpingo-oophorectomy
Colorectal Neoplasms, Hereditary Nonpolyposis epidemiology
Colorectal Neoplasms, Hereditary Nonpolyposis genetics
Colorectal Neoplasms, Hereditary Nonpolyposis prevention & control
Subjects
Details
- Language :
- English
- ISSN :
- 1530-0366
- Volume :
- 23
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Genetics in medicine : official journal of the American College of Medical Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 33257847
- Full Text :
- https://doi.org/10.1038/s41436-020-01029-1