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Colorectal cancer before screening age: why every tumour is now tested | CION Cancer Clinics
Colorectal cancer diagnosed well before routine screening normally begins is common enough now that most guidelines test the tumour itself for a specific DNA repair problem in every case. This page explains how tumour testing works, when it leads to a blood test for Lynch syndrome, and what a result changes for you and your family. At CION Cancer Clinics in Hyderabad, our oncologists review your family history with you and guide you to the right genetic counselling and testing.
On this page
- Why does colorectal cancer diagnosed young get tested differently?
- What does universal testing for colorectal cancer cover?
- What happens after an early colorectal cancer diagnosis?
- Terms used in colorectal cancer genetic testing
- Colorectal cancer after screening age, versus before
- Does an early diagnosis always mean Lynch syndrome?
- What people get wrong about early colorectal cancer and genetics
- Common questions about early colorectal cancer and genetic testing
Diagnosed before screening age
Why does colorectal cancer diagnosed young get tested differently?
Colorectal cancer diagnosed well before the age routine screening normally begins is now common enough, and linked closely enough to inherited faults, that most guidelines recommend testing the tumour itself in every single case. This does not wait for a striking family history. It is done as standard, alongside the rest of your workup.
The tumour test comes first, not the blood test
The initial test looks at the tumour tissue for a specific problem with how the cancer's DNA repairs small copying errors. This is quick, does not need a separate procedure, and can usually be done on tissue already taken during your biopsy or surgery.
A tumour finding decides whether blood testing follows
If the tumour test shows this repair problem, it points strongly toward an inherited cancer syndrome, and a blood test is then offered to check whether the fault is present in every cell of your body, meaning it can be passed to children and shared with relatives.
Universal tumour testing applies to colorectal cancer at any age. Being diagnosed young simply makes an inherited cause more likely once the tumour result comes back.What is actually involved
What does universal testing for colorectal cancer cover?
Two related tests are often used together to look at the same underlying question from different angles.
Mismatch repair testing
A laboratory stain checks whether four proteins responsible for correcting DNA copying errors are present in the tumour. A missing protein points toward the syndrome discussed below.
Microsatellite instability testing
A related test looks for a specific pattern of DNA copying errors that builds up when the repair system is not working properly. It is often used alongside, or instead of, the protein stain.
The syndrome behind the pattern
When this repair problem is inherited, it is known as a hereditary bowel and womb cancer syndrome. It raises risk of several cancers, not colorectal cancer alone.
Blood testing to confirm an inherited fault
If the tumour shows the repair problem, a blood test checks whether it is inherited, present from birth, or arose only inside the tumour and is not passed on.
Not sure whether this applies to you?
Ask an oncologistWhat happens next
What happens after an early colorectal cancer diagnosis?
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The tumour is tested during routine pathology
This is done using tissue already taken, without an extra procedure, and is now standard for colorectal cancer at any age.
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An abnormal tumour result is flagged
Your oncology team is told whether the tumour shows the repair problem described above, alongside the rest of your pathology.
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Genetic counselling is offered if the tumour result is abnormal
This referral follows directly from the tumour finding, whether or not your family history looks unusual.
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A blood test confirms whether the fault is inherited
This distinguishes an inherited fault, present from birth, from a change that arose only inside the tumour and cannot be passed on.
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Relatives are offered testing if the fault is inherited
Siblings, children and other close relatives can be tested for the exact fault confirmed in you, and screening can start earlier for those found to carry it.
Words on your report
Terms used in colorectal cancer genetic testing
- Mismatch repair (MMR)
- The cell's system for correcting small copying errors in DNA. A fault in this system is central to this whole pathway of testing.
- Microsatellite instability (MSI)
- A pattern of DNA errors that builds up when mismatch repair is not working. Its presence is checked as part of the same workup.
- Lynch syndrome
- The inherited condition caused by a fault in a mismatch repair gene, raising risk of colorectal, womb-lining and several other cancers.
- Somatic change
- A change found only inside the tumour, not inherited and not passed to children.
- Germline fault
- Present in every cell from birth, and inheritable, confirmed by a blood test rather than tumour tissue alone.
- Cascade testing
- Testing close relatives, one by one, for the exact fault already confirmed in you.
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Side by side
Colorectal cancer after screening age, versus before
Being straight with you
Does an early diagnosis always mean Lynch syndrome?
No. Most colorectal cancer diagnosed young still turns out not to be linked to this syndrome, and rates of early colorectal cancer have been rising in ways researchers have not fully explained, including in people with no inherited fault at all. Testing is worthwhile because the tumour test is quick and the syndrome, when present, changes real decisions.
A tumour finding is not the same as a confirmed inherited fault
An abnormal tumour result raises suspicion. It is the blood test, not the tumour test, that tells you whether the change is inherited and can be passed to children or shared with relatives.
What this page cannot tell you
It cannot tell you whether your own diagnosis is linked to Lynch syndrome, or interpret a tumour or blood result you may already be holding. That is a conversation for the genetic counsellor working alongside your oncology team.
If you were diagnosed with colorectal cancer before screening age and have not had tumour testing, ask your oncologist directly.Commonly believed
What people get wrong about early colorectal cancer and genetics
Colorectal cancer diagnosed young has become common enough that testing the tumour for a specific repair problem is now standard practice, precisely because young diagnoses raise this question so often.
A fault can arise for the first time in one person, and Lynch syndrome can also raise risk of womb-lining and other cancers that a family may not have connected to bowel cancer at all.
Some tumour changes arise only inside the cancer and are not inherited. A blood test is needed to confirm whether the change is present in every cell of your body.
Lynch syndrome raises risk across several organs, including the womb lining and, less often, others. Surveillance plans for confirmed carriers usually cover more than the bowel alone.
Questions we are asked
Common questions about early colorectal cancer and genetic testing
Is tumour testing done automatically, or do I need to ask for it?
Most centres now test every colorectal cancer tumour as standard, regardless of age. If you are not sure whether yours has been done, ask your oncologist directly.
What's the difference between the tumour test and the blood test?
The tumour test looks at the cancer tissue only and can be done without a separate procedure. The blood test confirms whether an abnormal tumour result is inherited or arose only inside the tumour.
My tumour test was abnormal. Does that mean I have Lynch syndrome?
Not necessarily. An abnormal tumour result raises suspicion, but only the blood test confirms whether the fault is inherited. Your genetic counsellor will explain what the tumour result means for your next step.
Should my siblings be tested even before my own blood result?
Usually it is better to wait for your blood result. It tells the counsellor exactly which fault, if any, to test your siblings for, rather than testing them broadly first.
Does Lynch syndrome only affect the bowel?
No. It also raises risk of womb-lining cancer and, to a lesser extent, some other cancers. Surveillance for a confirmed carrier usually covers more than one organ.
Why are more young people being diagnosed with colorectal cancer?
Researchers have not fully explained the rise, and it includes people with no inherited fault at all. This is one reason universal tumour testing was introduced, rather than relying on age or family history to decide who is tested.
Will finding Lynch syndrome change my current treatment?
It can, depending on your specific case. Your oncologist will discuss whether a confirmed finding affects your current treatment plan alongside its implications for future screening.
Where do I start?
Ask your treating oncologist whether tumour testing has been done and, if it is abnormal, for a referral to genetic counselling. Call the CION helpline if you are unsure who to approach.
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
- National Cancer Institute — Genetics of Colorectal Cancer
- NCCN — NCCN Guidelines for Patients: Genetic Testing for Hereditary Cancer
- Cancer Research UK — Lynch syndrome (HNPCC)
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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