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Lynch Syndrome - Causes, Symptoms, Diagnosis, Treatment and Prevention

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Lynch syndrome is a type of inherited cancer syndrome that increases the risk of various cancers. To know more about lynch syndrome, read the article below.

Medically reviewed by

Dr. Amara Deepthi Pravallika

Published At April 2, 2022
Reviewed AtJune 21, 2023

Is Lynch Syndrome a Type of Cancer?

Lynch syndrome, previously called hereditary nonpolyposis colorectal cancer (HNPCC), is an inherited condition that increases the risk of various cancers, including endometrial cancer and colorectal cancer. Although various other inherited disorders can increase the risk of these cancers. About three in every 100 endometrial or colon cancers are because of this syndrome. Almost 4,000 colon cancers and 1,800 uterine cancers occur due to lynch syndrome every year.

Lynch syndrome makes the affected family members prone to colorectal or endometrial cancers, and the cancers commonly occur at an earlier age (before 50 years of age) than normal. It also increases cancer risk in the kidneys, ovaries, gallbladder, pancreas, liver, stomach, brain, and skin.

People with this syndrome sometimes have colon polyps, which are benign or noncancerous growths found in the colon lining. It is an autosomal dominant condition and is due to a mutation in the MLH1, MSH2, EPCAM, MSH6, or PMS2 gene. Treatment includes surgical removal of the affected part of the colon. People with lynch syndrome should start getting routine colonoscopies before the age of 50. One in 400 people suffers from lynch syndrome in the UK.

What Causes Lynch Syndrome?

Lynch syndrome is caused due to inherited mutations in genes that affect the process that repairs mistakes made during DNA replication (DNA mismatch repair). The genes MLH1, MSH2, EPCAM, MSH6, and PMS2, protect against certain cancers, but mutations prevent them from working correctly. This syndrome runs in families in an autosomal dominant inheritance style, meaning if one parent has the gene mutation for lynch syndrome, there is a 50 % chance of the mutation getting passed on to each child.

Normally, human cells can recognize mistakes and correct them. But people with one abnormal gene associated with lynch syndrome do not possess this ability. Such errors accumulate, leading to genetic damage, and the cells turn cancerous.

Not all people with lynch syndrome develop colorectal cancer. Colorectal cancer can also result from a mutation in genes not seen in lynch syndrome. Genetic testing using multigene panels can establish the risk of inherited colorectal cancer as they look at different gene mutations simultaneously.

What Are the Symptoms of Lynch Syndrome?

Those who have lynch syndrome are more likely to develop noncancerous growths or polyps in the colon. Colon polyps are seen at an early age in such people as compared to others without this syndrome. But, this syndrome does not affect the number of colon polyps.

The other symptoms that can result due to lynch syndrome are:

  • Abdominal pain.

  • Persistent constipation.

  • Tiredness or fatigue.

  • Gas and bloating.

  • Gastrointestinal bleeding leads to blood in stools.

  • Unexplained weight loss.

  • Nutritional deficiency is due to the reduced ability of the small intestine to absorb nutrients from the diet.

  • Glioblastoma (an aggressive brain tumor).

What Are the Signs That Indicate Lynch Syndrome?

The following signs are commonly associated with lynch syndrome:

  1. Colorectal or endometrial (uterine) cancer before 50 years of age.

  2. Colorectal cancer, stomach cancer, endometrial cancer, small bowel cancer, ovarian cancer, renal cancer, bile duct cancer, bladder cancer, pancreatic cancer, or sebaceous adenomas of the skin with a gene mutation associated with lynch syndrome.

  3. Colorectal cancer, related to lynch syndrome, in one or more relatives, such as parents, siblings, and children.

  4. Colorectal cancer and another lynch syndrome-related cancer in two or more relatives, including aunts, uncles, grandparents, grandchildren, nephews, and nieces.

What Are Organs That Are at Risk of Developing Cancer in Lynch Syndrome?

The risk of developing cancer in specific organs depends on the mutated gene. The incidence of various cancers are:

  • Colorectal Cancer - It more commonly occurs on the right side of the colon, and it develops in one to two years, as opposed to ten years in the general population. Such patients are also at risk of developing a second colorectal cancer after treatment.

  • Endometrial Cancer - The average age of diagnosis is between 48 and 57 years.

  • Ovarian Cancer - 4 % to 20 % of people with lynch syndrome are at risk of developing ovarian cancer.

  • Stomach Cancer - Around 0.2 % to 13 % of patients with lynch syndrome develop stomach cancer. People commonly get diagnosed between the ages of 49 and 55 years.

  • Small Bowel Cancer - The risk of this cancer in patients with lynch syndrome is 0.4 % to 12 %. They get diagnosed at 46 to 49 years on average.

  • Cancer of the Liver or Gallbladder - Only 0.02 % to 4 % of lynch syndrome patients develop this cancer, usually diagnosed between 54 and 57 years.

  • Pancreatic Cancer - Almost 0.4 % to 4 % of lynch syndrome patients can develop this cancer, and the average age it gets diagnosed is 63 to 65 years.

  • Skin Cancer - The risk of patients with lynch syndrome developing certain skin cancer types is 1 % to 9 %.

  • Urinary Tract Cancer - About 0.2 % to 25 % of affected patients can develop urinary tract cancer, and they commonly get diagnosed between 52 and 60 years of age.

  • Cancer of the Central Nervous System (Brain or Nerves) - The lifetime risk of this cancer in affected people is 1 % to 4 %, and the average age of diagnosis is 50 years.

Sometimes, lynch syndrome patients also show Muir-Torre syndrome, which is a condition that makes people prone to the cancers listed above, including benign skin growth.

How Is Lynch Syndrome Diagnosed?

Suppose an individual has multiple relatives with lynch-associated tumors, family members with cancer at a considerably young age, and more than one relative from more than one generation affected by cancer. In that case, the doctor will suspect lynch syndrome and suggest getting tumor testing done. The cancer cells are tested to see if the tumor has specific characteristics of lynch syndrome cancers. It can reveal if the cancer was caused by the genes associated with lynch syndrome. Immunohistochemistry (IHC) testing and microsatellite instability (MSI) testing are some methods of tumor testing. A positive IHC or MSI test indicates a mutation in the lynch syndrome genes.

If an individual does not already have a tumor or cancer, then they can get genetic testing done so that the cells can be tested for lynch syndrome mutation.

How Is Lynch Syndrome Treated?

People diagnosed with lynch syndrome, but have not developed cancer, should get regular colonoscopies and other cancer screenings. Sometimes, a few patients opt for a prophylactic colectomy, where the colon is surgically removed before colon cancer develops. And for those with cancer, the treatment options include:

  • Polypectomy - This surgery is done to remove colon polyps.

  • Colectomy - It is the surgery for the removal of all or part of the colon and affected lymph nodes.

  • Ablation - In this procedure, radiofrequency waves are used to destroy small tumors.

  • Cryosurgery - It is a procedure in which a probe is used to deliver cold gas to freeze and kill cancer cells.

  • Embolization - Here, blood flow to the tumor is blocked by inserting a thin tube into an artery.

How Is Lynch Syndrome Prevented?

As it is a hereditary condition, lynch syndrome cannot be prevented. But, regular screening and tests can help detect cancer early, and prompt treatment can be done.

The screening recommendations include -

  1. Colorectal Cancer - A colonoscopy every year, starting at 20 years of age, helps detect colorectal cancers at the earliest.

  2. Cancer of the Uterus or Ovaries - Transvaginal ultrasound yearly, beginning at 30 years, is recommended for screening ovarian or uterine cancers.

  3. Stomach Cancer - For screening for stomach cancer, upper endoscopy once every three years, from 30 years of age.

  4. Annual Urinalysis and Ultrasound - Ultrasound of the kidney, ureters, urethra, and bladder along with urinalysis should be included once a year.

Aspirin, taken daily, lowers the risk of cancer associated with lynch syndrome. But the dosage has not been established yet. So, doctors do not prescribe it in routine practice.

Conclusion:

Lynch syndrome is a hereditary condition that increased the risk of developing cancers. Although it cannot be prevented, screening for cancers at regular intervals helps in early diagnosis, which, in turn, can aid in appropriate treatment.

Frequently Asked Questions

1.

How to Test for Lynch Syndrome?

A blood or saliva test of a person who has inherited it can confirm Lynch syndrome. The test can determine whether or not a person has a heritable mutation in one of the genes linked to Lynch syndrome.

2.

What Cancers Are Linked to Lynch Syndrome?

Lynch syndrome is a condition that is inherited, and it increases the risk of developing colon cancer, endometrial cancer, and other cancers. Lynch syndrome was previously referred to as hereditary nonpolyposis colorectal cancer (HNPCC).

3.

What Is the Prevalence of Lynch Syndrome?

Lynch syndrome is quite common. According to estimates, up to one in every 300 people may be carriers of a gene mutation linked to Lynch syndrome.

4.

What if Both Parents Suffer From Lynch Syndrome?

Lynch syndrome is inherited in families in an autosomal dominant pattern. This means that if one parent has a Lynch syndrome gene mutation, there is a 50 % chance that the mutation will be passed down to each child. Lynch syndrome is equally dangerous whether the gene mutation carrier is the mother or father or whether the child is a son or a daughter.

5.

How to Get Rid of Lynch Syndrome?

People who have Lynch syndrome but have not developed cancer should undergo regular colonoscopies and other cancer screenings. A few patients may choose to have a prophylactic colectomy, in which the colon is surgically removed before colon cancer develops. Treatment options for people with cancer include:
- Polypectomy - This surgery is used to remove polyps from the colon.
Colectomy- The surgical removal of all or part of the colon as well as affected lymph nodes.
- Ablation - Radiofrequency waves are used to destroy small tumors in this procedure.
- Cryosurgery- A procedure that uses a probe to deliver cold gas to freeze and kill cancer cells.
- Embolization - This procedure involves inserting a thin tube into an artery and blocking blood flow to the tumor.

6.

When Can Lynch Syndrome Be Tested?

Doctors recommend that family members who have tested positive for the Lynch syndrome gene mutation, as well as those who have not been tested, begin colonoscopy screening in their early 20s, or 2 to 5 years younger than the youngest person in the family with a diagnosis (whichever is earlier). Every one to two years, testing should be performed.

7.

When Should You Be Concerned About Lynch Syndrome?

If a patient has a family history of cancer, you should suspect Lynch syndrome, especially if there are three or more family members with HNPCC-related cancer, one of whom is a first-degree relative of the other two. Two generations have been affected.

8.

Is Lynch Syndrome Serious?

Yes, Lynch syndrome is a genetic condition that increases the risk of developing certain cancers. Problematic genes are passed down from parents to children. People who have it have a 40 % to 80 % chance of developing colorectal cancer by the age of 70. They are also at risk for uterine, ovarian, or stomach cancer.

9.

How to Get Genetic Testing for Lynch Syndrome?

A blood or saliva test of a person who has inherited it can confirm Lynch syndrome. The test can determine whether or not a person has a heritable mutation in one of the genes linked to Lynch syndrome. Currently, testing for the MLH1, MSH2, MSH6, EPCAM, and PMS2 genes is available.

10.

In Lynch Syndrome, How Are Proteins Produced?

Lynch syndrome is a hereditary cancer predisposition disorder associated with missense mutations in MSH2 and other mismatch repair proteins. Missense mutations can disrupt protein function by causing a mutation in an active site, but also because missense proteins are less structurally stable than wild-type proteins.

11.

What Should I Do if I Have Lynch Syndrome?

Lynch syndrome patients are more likely to develop certain types of cancer. If you have Lynch syndrome, get regular screenings to catch any cancers in their early stages, when they are easiest to treat. When detected early, colon cancer is 90 percent curable. If you are at risk, you should begin getting regular checkups much sooner than usual.

12.

What Mutation Is Responsible for Lynch Syndrome?

Lynch syndrome is caused by inherited changes in the form of mutation in genes that affect DNA mismatch repair (MLHL, MSH2, MSH6, PMS2, and EPCAM), a process that corrects errors in DNA replication. These genes are normally protective against certain cancers, but some mutations in these genes prevent them from functioning properly.

13.

When Should Children Be Tested for Lynch Syndrome?

Lynch syndrome genetic testing is not usually recommended for children under the age of 18, but it may be considered once they reach adulthood.

14.

What Are the Symptoms of Lynch Syndrome?

Lynch syndrome is distinguished by an increased risk of colorectal cancer (CRC) as well as cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain, skin, pancreas, and prostate.

15.

Can Lynch Syndrome Be Cured?

Lynch syndrome has no known cure. Patients with Lynch syndrome should be screened for cancer throughout their lives, beginning in adulthood.

16.

Does Lynch Syndrome Skip a Generation?

Because Lynch syndrome is inherited, there is a 50 % chance that each of a person's children will inherit the mutation. Lynch syndrome does not skip generations. Males and females are equally susceptible.

17.

Is Lynch Syndrome a Disability?

If a person or their dependent(s) is diagnosed with Lynch Syndrome and exhibits any of the symptoms, they may be eligible for Social Security Disability benefits in the United States.

18.

Does Lynch Syndrome Affect Your Immune System?

As colorectal cancer in Lynch syndrome is characterized by strong lymphocyte infiltration, even at the adenomas stage, the immune system is thought to be of potentially great importance.

19.

Can You Have Lynch Syndrome if neither of Your Parents Has It?

Lynch syndrome is inherited, which means it is caused by an inherited genetic change or mutation, that can be passed down from parent to child. Your parents, children, sisters, and brothers have a 50 % chance of having Lynch syndrome if you do.

20.

Why Is Lynch Syndrome Dominant?

Normally, each cell has two copies of each gene: one from the mother and one from the father. Lynch syndrome shows an autosomal dominant inheritance pattern, which means that a mutation in only one copy of the gene increases the person's risk of getting the disease.

21.

How Long Can Someone With Lynch Syndrome Expect to Live?

There is a reduced life expectancy for people with Lynch syndrome.
Dr. Amara Deepthi Pravallika
Dr. Amara Deepthi Pravallika

General Surgery

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