Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants
Conclusion: Little benefit is gained by performing RRS before 40 years of age and premenopausal BSO in path_MSH6 and path_PMS2 heterozygotes has no measurable benefit for mortality. These findings may aid decision making for women with LS who are considering RRS.
Prof. Sue Clark talking about bowel cancer in Lynch Syndrome.
Lots to digest including her thoughts on total v partial colectomy for people with Lynch Syndrome.
Sharing information about hereditary cancer with children
Kids learn as much from what we do as from what we say
What is Lynch Syndrome?
Lynch syndrome (LS) is a genetic condition that makes people more likely to develop certain cancers.
You have a 50% chance of inheriting LS from an affected parent. LS doesn’t discriminate between gender and does not skip generations, you are either born with it or not.
The genes involved in LS are MLH1, MSH2, MSH6, PMS2 and EPCAM.
LS is caused by a missing or damaged MMR (miss match repair) gene. Generally, people have two copies of this gene which protect new cell development from errors that could lead to a mutation. If a mistake is found, then the cell is told to destroy itself. In LS we only have one working copy of this gene so if that becomes damaged or broken, we run the risk of an abnormal cell being created which could eventually lead to a cancer. People with LS have this missing gene in every single cell of their body.
The greatest risk cancers in LS are bowel and endometrial. There are also others with lower risk but still significant compared to that of the general population. You can use this tool to determine your risk from different types of cancer. http://www.lscarisk.org/
LS is no longer considered rare with around 1 in every 300 people affected and of those, only 5% will know they carry this genetic condition. Left undiscovered it has the power to devastate generations of families.
The good news is, screening and preventative surgery are weapons in the fight against LS and are proven to save lives. Knowing you carry LS is both a blessing and a curse. Knowledge really is power – which can help you stay safe and well.
(thanks to Lynch Syndrome UK)
