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Hereditary Cancer Syndrome - Diagnosis, Symptoms, and Prevention

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Hereditary Cancer Syndrome - Diagnosis, Symptoms, and Prevention

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Hereditary cancer syndrome is caused due to mutation in genes. This article explains this syndrome in detail.

Medically reviewed by

Dr. Yasmin Yusuf Zai

Published At September 13, 2021
Reviewed AtDecember 21, 2023


Cancer is known to happen when there is an abnormal growth of cells, and it is also called family cancer syndrome or cancer syndrome. It is genetically inherited where there may be a mutation of one or more genes. A syndrome is usually known to happen when there is a combination of various conditions. There can be lifetime risk, but also, there can be the development of numerous independent tumors.

Most of this combination of conditions occurs due to mutation that happens in tumor suppressor genes. Tumor suppressor genes help protect cells by inhibiting the transformation of normal cells into cancerous cells. Apart from these, various other genes might be affected, like the DNA repair genes, genes that take part in blood vessel formation, oncogenes, etc. Some commonly seen examples of inherited cancer syndromes are hereditary breast-ovarian syndrome, Lynch syndrome, etc.

The prevalence rate of this cancer is 5 to 10% of all the known cancers. It has nearly 50 variants, and there are over 50 identifiable hereditary forms of cancer. Certain rare cancers have shown an association with hereditary cancer predisposition syndromes.

How Can It Present Itself?

Since there is a genetic predisposition, the gene mutation can show any of the following variations:

1. Mendelian Cancer Syndromes: It can be either autosomal dominant or autosomal recessive

2. Defective DNA Repair: It can present as autosomal recessive or autosomal dominant.

3. Familial Cancers: In this, the transmission pattern is not established yet.


In this, there can be an inheritance of one single mutant gene. Only one gene can be mutated. Some examples are:

  1. Retinoblastoma: There is a mutation of the RB tumor suppressor gene. It is usually bilateral and has more risk of forming second cancer.

  2. Familial Adenomatous Polyposis: In this, there is a mutation of the APC Tumor suppressor gene.

  3. Li-Fraumeni Syndrome: There is a germline mutation of the p53 gene, which increases the chances of getting breast tumors, brain tumors, sarcomas, childhood adrenocortical carcinomas, and acute Leukemias

  4. MEN1 and 2: In MEN1, there is an increased risk for forming parathyroid tumors, pancreatic tumors, and/or pituitary tumors.

In MEN2, there is a mutation of RET proto-oncogene. It causes an increased risk of developing medullary thyroid cancers. Also, the person has an increased risk of developing pheochromocytoma, parathyroid tumors, and/or mucosal neuromas involving the lips and tongue.

This condition can be classified and diagnosed based on the family history and medical history, followed by clinical examination of the patient and genetic testing.

  1. Hereditary Nonpolyposis Colorectal Cancer: This puts a patient at a high risk of developing cancers involving the colon, ovary, endometrium, stomach, small intestine, and bile duct.

  2. Von Hippel-Lindau Disease: It is clinically characterized by abnormal growth of blood vessels in various parts of the body. Hemangioblastomas and angiomas may develop in such patients. Various body parts that can be involved are the retinas, spinal cord, certain areas of the brain, adrenal glands, and other parts of the body.

  3. Neurofibromatosis Type 1: This typically affects the Schwann cell.

  4. Peutz-Jeghers Syndrome: Multiple polyps within GIT develop along with cutaneous pigmentation around lips, oral mucosa, face, genitalia.

  5. Cowden Syndrome: This creates an increased risk of breast and thyroid cancers.

  6. Familial Melanomas: CMM1, CMM2, (CDKN2), CDK4 genes are involved in this type of tumor. Almost 5 to 7% of patients come from genetically high-risk families. There is a presence of invasive melanoma in at least two first-degree relatives. Some people have nearly 10 to 100 moles on the upper trunk and limbs.


The major drawback of a defective DNA repair is DNA instability. Some of the autosomal recessive conditions include:

  1. Xeroderma Pigmentosum: In this, there is a defect in the excision stage of repair. The main damage is due to UV radiation.

  2. Bloom’s Syndrome: In this, there is a defect in the repair enzymes DNA ligase 1. It causes an increased risk of forming all types of cancers.

  3. Ataxia-telangiectasia: This includes a defect in the repair of gamma radiation damage to nucleotide bases.


Though the exact representation of this type of cancer is not known, there is an increased risk to first-degree relatives. The major contributing factors are inter-relation marriages and environmental factors like lung cancer. Some of the more commonly seen cancer of this type are as follows:

1. Breast Cancer: Women with mutations of BRCA1 and 2 are at more risk. Women with a mutation of BRCA1 have an 80-90 % lifetime risk.

2. Ovarian Cancer: This type of cancer is closely associated with breast cancer.

Both these tumors are seen in many dominant families, and very commonly, the same person can be affected.

3. Colorectal carcinomas.

How Can It Be Diagnosed?

Initially, the doctor will ask about the symptoms being faced by you and your family and personal history. Following this, a physical examination and various required tests are done. Familial cancers should be suspected if there is a family history, development of adult-type carcinomas at an early stage, numerous independent carcinomas.

For specific cancers, there are specific examination tools and types as follows:

  1. Breast cancer: Mammography, self-examination of breasts, regular examination by a physician.

  2. Familial melanomas: Regular monthly skin examinations, dermatologic evaluation twice a year, and early excision of any suspicious lesion in the body.

Apart from these, genetic testing is necessary. This is more indicated in those who are known to have a risk of developing cancer due to gene issues or family history. This testing helps in identifying the disease progression or transmission pattern in the families, and required steps for early management can be done. ·

What Are The Symptoms?

The symptoms typically depend on the cancer type and the involved site, along with the individual variation.

How Can It Be Treated Or Prevented?

The best way to prevent or early diagnosis is family history, self-examinations, and genetic testing. The treatment depends on the type of tumor, site involved, individual factors or variations, the stage of the tumor, etc. This will be decided by the physician and explained to you after the diagnosis.


Hereditary cancer syndrome can present in various types, and early diagnosis and management are possible with genetic testing and various other methods to improve the prognosis. To know more about this syndrome, consult a specialist online using online medical platforms.

Frequently Asked Questions


How Can One Determine if They Have Hereditary Cancer?

Suppose a person has a family history of cancer. In that case, particularly if multiple close relatives have been diagnosed with the same or related types of cancer, it may indicate a hereditary component to the disease in the family. Genetic testing helps identify the chance of developing cancer in a lifetime. It searches for gene mutations (specific changes in genes, chromosomes, or proteins). Genetic testing helps in various ways, which include:
- Predict the risk of certain cancer.
- Identify if individuals have genes that may pass increased cancer risk to children. 
- Gives information to guide healthcare.


How Frequently Do Hereditary Cancer Syndromes Occur?

Hereditary cancer syndromes are relatively uncommon. It accounts for approximately five to ten percent of all cancers. Hereditary breast and ovarian cancer syndrome occur due to mutations in the BRCA1 and BRCA2 genes; it accounts for five to ten percent of all breast cancers and 10 to 15 % of all ovarian cancers. Around three to five percent of uterine cancer cases are attributable to a genetic cause. 


What Steps Can Reduce the Likelihood of Cancer in Families With a History of the Disease?

Steps that can take to minimize the risk of developing cancer include:
- Regular testing may involve getting screened earlier or more frequently or utilizing different testing methods like genetic testing.
- Medications or surgical procedures that can reduce the cancer risk.
- Making lifestyle changes that promote good health, such as quitting smoking, avoiding alcohol, regular exercise, and maintaining a healthy weight.


Can Hereditary Cancer Be Absent in Certain Generations of a Family?

Sometimes, hereditary cancer can skip a generation. This is typical because a family member with the mutation passed it on to their child but did not develop cancer themselves. If one of the parents carries a mutated gene, children have a 50 % chance of inheriting it. 


Who Are the Individuals More Likely to Develop Cancer?

Factors that increase the risk for cancer include:
- Older age people. 
- A family history of cancer or previous history of cancer. 
- Obesity.
- Excessive tobacco usage and alcohol intake.
- Exposure to certain harmful substances like asbestos or pesticides.
- Exposure to radiation like ultraviolet radiation from the sun.
- Certain viruses like human papillomavirus (HPV) and hepatitis B and C. 
- Physical inactivity. 


Can Cancer Be Diagnosed Through a Blood Test?

Blood tests to diagnose cancer include:
- Circulating Tumor Cell (CTC) Tests: These tests detect rare cancer cells that have broken off from a tumor and are circulating in the blood.
- Tumor Marker Tests: These tests measure the levels of specific proteins in the blood, known as tumor markers. Elevated levels of these markers can indicate the presence of certain types of cancer, such as ovarian, testicular, or liver cancer.
- These blood tests are used with other diagnostic tools, such as biopsies, imaging tests, and physical exams, to confirm a diagnosis.


Is Genetic Testing for Cancer a Wise Choice?

Genetic testing can be beneficial for people who have:
- A strong family history of cancer.  This test guide decisions about cancer screening and prevention measures.
- A personal history of cancer. Suppose a person's cancer has a hereditary component and guides decisions about future cancer risk and treatment options.
- It helps to determine if a person's multiple cancers are related and guide decisions about future cancer risk and treatment options.
- Genetic testing can help identify rare cancers and guide decisions about treatment options.
- Genetic tests are a good way to find gene changes that could raise the chance of cancer. However, the tests cannot say for sure if an individual will get cancer. The tests only show if someone has a gene linked to some type of cancer. 


Is Stress a Factor in Causing Cancer?

Stress itself is not a direct cause of cancer. Some research studies have suggested that stress may influence the behavior of certain biological systems that play a role in cancer development and progression, such as the immune system and the hormones that regulate inflammation. Individuals experiencing chronic stress may engage in behaviors such as smoking, excessive eating, inactivity, or alcohol consumption, increasing the likelihood of certain cancers.


Why Is the Incidence of Cancer Increasing?

Several factors may contribute to the increasing cancer incidence, including the following.
- Population Rate: Increased population growth is one of the reasons for an increase in the cancer rate. 
- Lifestyle Factors: Certain lifestyle factors, such as tobacco use, poor diet, and lack of physical activity, increase cancer risk.
- Environmental Factors: Exposure to certain environmental factors, such as air pollution, radiation, and certain chemicals, may increase a person's cancer risk.
- Recent Technological Advances: Improved detection and diagnosis due to advanced technology and medical imaging.  


What Is the Appropriate Time to Undergo Testing for a Cancer Gene?

The decision to get tested for cancer gene mutations depends on the following factors.
- Personal and Family Medical History: If an individual has a personal or family history of certain types of cancers, such as breast, ovarian, colon, or prostate cancer, they want to consider genetic testing to determine if a genetic mutation is present.
- Age: Cancer risk increases with age. Older individuals may be more likely to benefit from genetic testing.
- Type of Cancer: Certain cancers, such as Lynch syndrome or BRCA-related cancers, are more likely to be hereditary, and testing for genetic mutations may be recommended for individuals with a family history of these cancers.


What Is the Common Method for Detecting Most Cancers?

Most cancers are detected with the help of certain steps, which includes:
- Medical Imaging: This includes X-rays, CT scans, MRI scans, PET scans, and ultrasonography, which are used to visualize the inside of the body and identify any abnormal growths or changes.
- Blood Tests: Blood tests can measure levels of certain proteins or hormones that may indicate the presence of cancer. 
- Biopsies: A biopsy involves removing a small tissue sample from the suspected area of cancer and examining it under a microscope. 


Does Stress Have an Impact on Increasing Tumor Marker Levels?

Stress does not directly cause tumor markers to rise. Tumor markers are substances produced by cancer cells or the body in response to cancer and are measured through blood tests. However, stress can weaken the immune system, affecting the body's ability to fight cancer.


Which Cancers Are Most Commonly Associated With Genetic Factors?

Some cancers are more likely to be associated with genetic mutations. Examples include:
- Breast and ovarian cancers associated with BRCA1 and BRCA2 mutations.
- Colorectal cancers.
- Endometrial cancers.
- Prostate cancer.
- Stomach cancers. 


Why Do Individuals Who Are in Good Health Still Develop Cancer?

Cancer can develop in healthy people with no known risk factors or family history of the disease. This is because cancer is often the result of complex interactions between genetic mutations, environmental exposures, and lifestyle factors that can cause cell changes that lead to tumor growth.
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Dr. Yasmin Yusuf Zai

General Practitioner


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