and what it really means...
Tuesday 23rd December 2014
This photo is in the box. Because it represents me.
I have Lynch - hypermethlyation of the MLH1 promoter gene to be exact. Yep, I didn't have a clue either.. here is a quote...
Clinical Information
Hereditary nonpolyposis colon cancer (HNPCC), also known as Lynch syndrome, is an inherited cancer syndrome caused by a germline mutation in 1 of several genes involved in DNA mismatch repair (MMR), including MLH1, MSH2, MSH6, and PMS2. There are several laboratory-based strategies that help establish the diagnosis of HNPCC/Lynch syndrome, including testing tumor tissue for the presence of microsatellite instability (MSI-H) and loss of protein expression for any 1 of the MMR proteins by immunohistochemistry (IHC). It is important to note, however, that the MSI-H tumor phenotype is not restricted to inherited cancer cases; approximately 20% of sporadic colon cancers are MSI-H. Thus, MSI-H does not distinguish between a somatic (sporadic) and a germline (inherited) mutation, nor does it identify which gene is involved. Although IHC analysis is helpful in identifying the responsible gene, it also does not distinguish between somatic and germline defects.
LS is named after the doctor who discovered it.
Lynch syndrome is the most common cause of hereditary bowel cancer. However, fewer than 5 in 100 (5%) of all bowel cancers are linked to LS.
People with LS also have an increased risk of developing other cancers. In women, there is a higher risk of womb (endometrial) and ovarian cancers. Other cancers that can occur in people with LS include stomach, pancreas, small bowel, ureter and renal pelvis cancers.
Knowing about risk and having regular screening may help prevent some cancers. It may also help others to be found in the early stages, when they're more likely to be curable. So I get monitored when I feel I need it. I don't get monitored as much as I would like, but that is because I am neurotic! But whilst at first I felt like I had been given a death sentance, I actually realise it is a life gift. I am only too aware how quickly life can be snatched away, and serious illnesses can take years to recover from, so every day should be special.
You never know what personal demons people are facing, so you never know how your kindness can change their lives. It's nice to be nice, it makes other people be nice, and one day, hopefully the whole world will join in.
Kids - be kind, be happy, look after your bodies they are precious. And look after each other
x
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