Hereditary cancer

In recent years, a number of mutations have been discovered that may contribute to a person’s risk of developing certain cancers, including breast, ovarian, colorectal, and prostate cancers, as well as some other less common ones.

At HC Marbella we use determined genetic tests to search for genes involved in hereditary cancers. If you have a family history of cancer, or if you want to know if you or a member of your family is more likely to develop cancer, you can talk to our specialists who are experienced in the area of hereditary cancer.

What is hereditary cancer?

Cancer can result from several factors, a combination of both environmental and genetic. Although most tumours are sporadic and multifactorial, there are certain genetic abnormalities inherited from one or both parents which are present in almost all cells of the body, including sperm and eggs, which can therefore be passed on in a family.

Hereditary cancers are the result of germline mutations in specific genes which increase the chance of developing cancer.

Although being a carrier of a genetic mutation does not always imply that a person will develop cancer, it does make them more susceptible, these higher risk factors mean they must be monitored more closely.

When should I have a genetic test?

It is important to tell your doctor about your family history so that they can assess your risk of developing a particular type of cancer

There is usually a greater susceptibility to developing cancer:

When there have been several cases of the same type of cancer or related cancers in first degree relatives (parents, children, siblings).
When diagnosis is at an early age (40-50 years), in cancers that are related to ageing, such as breast, prostate, or colon cancer.
When a patient has bilateral or multifocal tumours or more than one type of primary tumour.
When there are specific types of potentially hereditary cancers such as serous ovarian carcinoma, choroid plexus carcinoma…

Which cancers might be genetic?

The most common Cancer Predisposition Syndromes are:

Hereditary Breast and Ovarian Cancer Syndrome (HBOS), , due to the genes (BRCA1, BRCA2, PALB2, RAD51) which usually lead to breast, prostate, or pancreatic cancer.
Lynch syndrome , (MLH1, MSH2, MSH6, PMS2) ) which lead to tumours including colorectal or ovarian tumours, and those of the urinary tract, stomach, and small intestine.
Familial Adenomatous Polyposis, , (FAP) causing colorectal, duodenal, desmoid, stomach and pancreatic cancer and osteomas.
Li- Fraumeni Syndrome, (TP53)which causes leukaemia, lymphoma, sarcoma, brain and breast tumours.
Multiple Endocrine Neoplasia Type 1, , (MEN1) the origin of parathyroid adenomas, pituitary adenomas, neuroendocrine tumours.
Multiple Endocrine Neoplasia Type 2, (MEN2) which causes medullary thyroid cancer, pheochromocytoma, and parathyroid adenomas.
Von Hippel-Lindau , (VHL) que originan cáncer de riñón, hemangioblastomas, feocromocitomas.

How is testing done?

Our specialists will give you information relating to the scientific concepts related to genetic testing and help you decide which genetic tests might be useful for you or your family member.

Genetic testing involves a simple blood test and can be used to obtain a more accurate estimate of cancer risk. In some cases, genetic testing may be performed on stored tissue samples.

Deciding whether to have a genetic test is a personal choice which can be made during the counselling session or at a future date. Genetic counselling does not always require genetic testing, and genetic testing may not be useful for everyone who receives genetic counselling.

After carrying out relevant testing and obtaining the results, genetic counselling includes recommendations for monitoring and preventative treatment both for the person concerned and for their family, depending on each case.

What information does genetic testing provide?

Genetic testing provides us with information regarding:

The probability of developing cancer
The probability of passing on a mutation to children.

This information enables specialist doctors to determine early prevention strategies or preventative therapeutic measures when someone is faced with the possibility of developing cancer.

Depending on the circumstances, the following may be recommended:

Periodic active surveillance by a medical specialist
Chemoprevention
Prophylactic surgery

What genetic tests can I have?

BRCA I AND BCRA II: Genetic test to determine the risk of hereditary breast and ovarian cancer, facilitating monitoring and preventative action.

Determination of Microsatellite Instability (MSI) and Alterations in DNA Repair Proteins. Tests to determine the risk of hereditary colorectal cancer and familial syndromes such as Lynch syndrome. This instability determination also provides the sensitivity of tumours to treatment with immunotherapy.