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MSH2 and cancer risk: which organs, and how much | CION Cancer Clinics
An inherited MSH2 fault causes Lynch syndrome. It raises the risk of bowel cancer and, in women, womb cancer most of all, with smaller rises in the ovary, stomach, small bowel, urinary tract and skin. This page goes organ by organ, explains why MSH2 differs from other Lynch genes, and shows how those risks turn into a plan of checks. At CION Cancer Clinics, our oncologists explain what a gene result means for you and your family, and plan the checks that follow.
On this page
- Which cancers does an MSH2 fault raise the risk of?
- Where in the body is the MSH2 risk highest?
- How do these risks turn into a check-up plan?
- The words you will meet, in plain language
- MSH2 and MLH1 risks, compared
- What people often get wrong about MSH2 risks
- What this page cannot tell you
- Common questions about MSH2 and cancer risk
The short answer
Which cancers does an MSH2 fault raise the risk of?
An inherited MSH2 fault causes Lynch syndrome. It raises the risk of bowel cancer and, in women, womb cancer most of all. It also raises the risk of cancers of the ovary, stomach, small bowel and urinary tract, and of some skin growths. Compared with other Lynch genes, MSH2 stands out for its risks outside the bowel.
Raised risk, not certainty
These are raised chances, not predictions. Many MSH2 carriers never develop cancer. Those who do are often found early, because regular checks are already in place. The point of knowing the risks is to decide which checks are worth doing.
Why this page avoids exact percentages
Lifetime risk figures for MSH2 vary from study to study and have been revised more than once as more carriers are followed. Most come from European and American families, and Indian data are still limited. So this page describes each risk in plain words. Your counsellor can explain the latest figures and what they mean for you.
An MSH2 fault is a statement about risk. It is not a diagnosis.Organ by organ
Where in the body is the MSH2 risk highest?
The risks fall into four broad groups. Your specialist decides which of them need regular checks in your case.
Bowel
The highest risk for most carriers, men and women alike. It is similar to MLH1 and well above the general population. Cancers can appear at younger ages than usual.
Womb and ovaries
Womb cancer risk is as high as bowel cancer risk for many women carriers. Ovarian cancer risk is also raised, though lower.
Report quickly
- Bleeding after menopause
- Bleeding between periods
Urinary tract
MSH2 carries the highest urinary tract risk of any Lynch gene. This mostly affects the tubes that drain the kidneys, and sometimes the bladder. Blood in the urine should always be checked.
Other organs
Smaller but real rises in stomach, small bowel, pancreas, bile duct, brain and prostate cancer. Unusual oil-gland skin growths are also more common with MSH2.
Not sure whether this applies to you?
Ask an oncologistFrom risk to plan
How do these risks turn into a check-up plan?
Confirm the fault
The counsellor checks that your report names a harmful MSH2 change, or an EPCAM deletion that switches MSH2 off. Only then does a Lynch plan start.
Start with the bowel
Colonoscopy begins in early adult life and repeats far more often than for other people. It is the check with the strongest evidence.
Plan for the womb and ovaries
Women discuss warning signs, checks, and the option of surgery once their family is complete. Nothing needs deciding straight away.
Decide on the rest together
Stomach, urinary and skin checks depend on your family history and your specialist's view, because the evidence for them is weaker.
On your report
The words you will meet, in plain language
- MSH2
- A core gene in the system that fixes copying errors in DNA. It works with a partner called MSH6.
- EPCAM deletion
- A missing piece of a neighbouring gene that switches MSH2 off. It causes Lynch syndrome in the same way.
- Lifetime risk
- The chance of a cancer over a whole life. It is an average across many carriers, not a forecast for one person.
- Upper urinary tract
- The part of the kidney that collects urine and the tube that carries it to the bladder.
- Sebaceous tumour
- A growth from an oil gland in the skin. Most are harmless, but in a family they can be a clue to Lynch syndrome.
- Muir-Torre syndrome
- The name used when Lynch syndrome comes with these skin growths. It is seen more often with MSH2.
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Side by side
MSH2 and MLH1 risks, compared
Commonly believed
What people often get wrong about MSH2 risks
The bowel matters most, but MSH2 has the widest spread of risks of any Lynch gene. The womb, ovaries, urinary tract and skin all need a place in the plan.
Men carry the same bowel risk and a raised urinary tract risk. Prostate cancer risk may also be higher. They pass the fault on exactly as often as women do.
Not all checks have good evidence. Bowel checks clearly help. For the urinary tract and stomach, studies are small, so the plan is decided case by case.
Oil-gland skin growths are usually harmless and are not spread from anywhere. They can, however, be the first clue that a family carries Lynch syndrome.
Being straight with you
What this page cannot tell you
It cannot give you your own risk for any organ. Your family's pattern of cancers, your sex and your age all shape it. The counsellor who ordered your test can explain which figures apply to you and how confident anyone can be about them.
It cannot say which checks you need
Bowel and womb plans are well established. Checks for the urinary tract, stomach and skin are less certain, and specialists do not all agree. If your family has had one of these cancers, that often tips the balance towards checking.
Who this does not apply to
If your report shows a variant of uncertain significance in MSH2, it is not a positive result, and none of these risks should be assumed. If MSH2 was missing only in a tumour, a blood test may still be needed to know whether the fault is inherited. Tumour testing is covered on our targeted therapy pages.
What your specific variant means is a question for the counsellor who ordered the test.Questions we are asked
Common questions about MSH2 and cancer risk
Which cancer is most likely with MSH2?
Bowel cancer for most carriers, and womb cancer for women, where the risk can be just as high. Both are well above the general population. That is why the plan always starts with regular colonoscopy, and with a gynaecology discussion for women.
Is MSH2 more serious than MLH1?
Neither is simply worse. Both carry the highest Lynch risks for the bowel and womb. MSH2 has more risk outside the bowel, especially the urinary tract and skin. Each gene has its own plan, and both are manageable with regular checks.
Should I have my urine tested regularly?
Some specialists suggest a simple urine test for blood in MSH2 carriers, especially with a family history of urinary tract cancer. The evidence that it helps is limited. Always report visible blood in the urine promptly, whatever your plan says.
Does MSH2 raise breast cancer risk?
It does not appear to raise it clearly. Studies disagree, and most guidelines do not recommend extra breast checks for Lynch alone. Women still follow ordinary breast screening advice. If your family has a strong breast cancer pattern, mention it.
What is an EPCAM deletion?
A missing piece of a gene that sits next to MSH2. It switches MSH2 off in some tissues, and it causes Lynch syndrome in the same way. Bowel risk is similar. Womb risk may be lower, depending on the exact deletion.
Do men with MSH2 need extra checks?
Men need the same bowel checks as women. Some specialists also discuss prostate checks from middle age, because the risk may be raised. Urinary tract checks depend on the family history. Your plan should be agreed with your own doctor.
Can my children inherit the MSH2 fault?
Each child has a one in two chance, sons and daughters alike. Testing usually waits until they are adults and can decide for themselves, because bowel checks begin in adult life. A child who does not inherit it cannot pass it on.
Where do I start after an MSH2 result?
Have the report explained by a genetic counsellor, book your first colonoscopy, and share the family letter with close relatives. Women should also see a gynaecologist. Call the CION helpline if you need help arranging any of these.
Meet CION's oncologists. Bring your family history or genetic report to them.
Our medical oncologists see people with a strong family history of cancer, arrange genetic counselling and testing where it fits, and plan the checks that follow.
Dr. C. Raghavendra Reddy
MBBS(Gold Medal), DNB(General Medicine), DM(Medical Oncology)(Gold Medal)
Dr. Bharati Devi Gorantla
MBBS, MD(General Medicine), DM(Medical Oncology)(Adyar,Chennai), ECMO, MRCP SCE(UK)
Dr. Owais Mohammed
MBBS, MD (General Medicine), DrNB (Medical Oncology), ECMO, MRCP SCE (Medical Oncology) (UK)
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Sources
- GeneReviews (NCBI) — Lynch Syndrome
- MedlinePlus Genetics — MSH2 gene
- National Cancer Institute — Genetics of Colorectal Cancer (PDQ)
- MedlinePlus Genetics — Lynch syndrome
This page is general information, not a prescription. Do not change or stop any treatment based on what you read here. If anything is worrying you, contact your own treating team — or call our helpline and we will help you reach the right specialist.
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