Family History

Family history of breast or ovarian cancer

The severity of family history can determine the frequency and type of screening.

Risk assessment by history is part of the first visit to the Breast Care Clinic. Before the first visit, it is a good idea to know as much information as possible about your family history of breast and ovarian disease. You will have an extensive discussion with the breast surgeon and find out if and how much you have an increased risk of cancer and what prevention frequency would be good to follow.

Do you need Gene Analysis?

In cases of very heavy family history, gene analysis of oncogenes such as BRCA1, BRCA2, PTEN, ATM and RAD51C is indicated.

What if the result is positive?

A positive result on gene testing is information that should be managed with the support and guidance of your Breast Surgeon, Health Psychologist and your environment.

If no gene mutation is found;

On the other hand, if gene testing that does not reveal a mutation of a known oncogene, a woman who was considered high risk by family history will continue to be treated as high risk and the Breast Screening Program will be formulated accordingly.

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Read the related article by Ioannis Haveles for more information

“In daily clinical practice, the Breast Surgeon-Mastologist will encounter many different reactions of women towards the issue of risk from a family history of breast cancer. The most common of these reactions is an overestimation of the actual risk. Practically, any woman who reports a family history of breast cancer believes that she has an increased risk of getting breast cancer herself. But is the reality that bad?

Let’s examine the issue step by step. Breast cancer is very common, so that almost every family has a case (nearest or furthest away). On the other hand, however, only 5-10% of all breast cancer cases are inherited. So, 90-95% are the random or sporadic cases, as they are called, so relatives should not be concerned about increased risk.

Your specialist doctor should do your so-called risk assessment from the first appointment. This is done by asking questions about family history to find the few women who are candidates for a significant hereditary history. These factors are:

• The same or close relative having cancer in both breasts

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• Having the same or a close relative develop cancer at less than 40 years of age

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• The same or a close relative having triple negative breast cancer
• Have at least 2 cases of breast cancer in the family
• There must be at least 2 cases of ovarian and breast cancer in the family
• There must be at least 2 cases of breast cancer in a male in the family
• Jewish Ashkenazi ancestry
• Having a congenital glioma or sarcoma at an early age
• Multiple cases of cancer at an early age in the family
• Large gene mutation associated with another cancer in the family

In order for this process to pay off, we try to know as much as we can about the family history before visiting our Breast Surgeon-Mastologist. The doctor’s assessment will tell us if our risk is that of the average population (no extra risk), moderately elevated or if we are at high risk.

The average population risk is the best possible outcome. We are just like all the other people around us. We need to get our screenings regularly and never forget that breast cancer is common enough to get our attention anyway.

Women who would be considered at average risk are those in whom there are cases in the family, but we don’t see them pass from mother to daughter and they usually occur at older ages. These women are unlikely to develop hereditary cancer, but will be recommended frequent clinical and imaging screening. Consistency in screening is the key to maximum safety.

In very few cases will the family history be significant enough to consider the woman as high risk. In these cases we see recurrence across generations, e.g. grandmother-mother-daughter and even at young ages. The specialist physician in these cases will discuss with the woman the possibility of having a gene test to clarify the situation and decide on further measures.

Gene testing can be done by any woman who has already had breast cancer or who is considered high risk by family history. This test is done with a simple blood test. The specialist laboratory will analyse the woman’s genetic material (DNA) looking for mutations in genes known to cause breast cancer. The best known of these are BRCA1 and BRCA2, but there are many more. Gene testing can be limited to genes involved in breast and ovarian cancer but can also be extended to a host of other genes linked to other types of cancer.

If the gene test comes back negative, it is good news, but the high-risk woman should continue her very regular and frequent testing. In the case of a positive finding, things are very different. Depending on the mutation found, the geneticists at the center that did the test will write a report explaining what the statistical risk is to the woman’s lifespan. Such a result should be discussed with the Breast Surgeon – Breast Surgeon in order to make decisions about further actions that may even go as far as preventive surgery.

Known as preventive mastectomy, risk reduction surgery is a great step for women with a strong mutation in an important gene. It is performed with simultaneous breast reconstruction by a properly trained Breast Surgeon, with or without the assistance of a Plastic Surgeon, depending on the method chosen. As the same genes are involved in ovarian cancer, it is often followed by an oophorectomy by a gynaecological surgeon.

The basis for all of the above is the establishment of a solid therapeutic relationship between the woman and the Breast Surgeon-Mastologist she chooses. The path to safety is a shared journey and we need to ensure it is as painless as possible, physically and psychologically, for the woman and her family.”

Watch the interview with Breast Surgeon Ioannis Haveles on risk factors in breast cancer: