Breast and ovarian cancer

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Hereditary breast and ovarian cancer

Mutations of the BRCA1 and BRCA2 genes

Breast cancer is the most common malignant tumour in women in Hungary. In the general population, women have a 10% risk of developing breast or ovarian cancer during their life.

In about 5-10% of breast cancers, an inherited gene alteration (mutation) is responsible for the disease, while this number is about 12% for ovarian cancer. In many cases, this predisposition does not only account for breast or ovarian cancers but, to a lesser extent, for tumorous degenerations of other organs (pancreas, uterus, cervix, prostate) as well.

Approximately half of the hereditary mutations responsible for predisposition to breast cancer are located in the BRCA1 gene and one-third in the BRCA2 gene. If an individual carries a mutation in either of these two genes, she has a 55-88% probability of developing breast cancer until the age of 75 and a 26-48% probability of developing ovarian cancer.

The high probability of the development of the diseases justifies the mutation analysis of the BRCA1 and BRCA2 genes in individuals at risk. At present, it is recommended to perform genetic screening of the family if one of the conditions below applies:

  • presence of breast cancer in both breasts
  • multiple primary breast cancers or presence of both breast and ovarian cancer
  • male breast cancer
  • presence of one of the three cases mentioned above in a first-degree relative
  • the development of breast cancer before the age of 40
  • one or more relatives with breast cancer and one or more relatives with ovarian cancer from the same branch of the family
  • a verified BRCA1/2 mutation-carrier relative

The analysis can verify the hereditary nature of an already existing disease. At the same time, if the genetic predisposition caused by the mutation is verified with the analysis in relatives who do not present clinical symptoms yet, early screening for the tumour, necessary surgical intervention, and treatment can be performed.

Map of the spread of ovarian cancer

  No data
   Less than 0.6
  0,6-1,2
  1,2-1,8
  1,8-2,4
  2,4-3
  3-3,6
  3,6-4,2
  4,2-4,8
  4,8-5,4
  5,4-6
  6-7
  More than 7

Age-standardized deaths due to ovarian cancer per 100 000 inhabitants in 2004.

To what extent does a BRCA mutation increase the risk of breast and ovarian cancer?

The degree by which a BRCA mutation increases the risk of cancer should be interpreted for everyone separately and is influenced by many factors together. The level of risk depends on the position of the mutation within the gene, the age, the number of pregnancies, etc. The average elevation of risk for carriers of BRCA is demonstrated in the figure.

FREQUENTLY ASKED QUESTIONS

What are the BRCA genes?
Two BRCA (BReast CAncer) genes are known: BRCA1 and BRCA2. As indicated by their names, they were first associated with the development of breast cancer. However, later they were shown to significantly increase the risk of the development of ovarian and other types of cancers as well.
When can the BRCA genes cause problem?
The BRCA1 and BRCA2 genes are present in everyone. These genes encode proteins that are essential for the maintenance of normal cell function. Problems arise only when one of the genes becomes defective due to a mutation. The mutant gene can be inherited through generations and, because it cannot fulfil its role correctly, the risk of the development of different malignant diseases - mainly breast and ovarian cancer - increases in those who inherit it.
Is every breast and ovarian cancer caused by a mutant BRCA gene?
Definitely not. Only 5-10% of breast and ovarian cancers are related to predisposition due to a hereditary mutation. However, most of such mutations were identified in the BRCA genes.
What are my chances of having a mutant BRCA gene?
In the average population in Hungary, the frequency of BRCA carriers is only about 0.1%. However, there are circumstances that increase the risk of being a BRCA mutation carrier. The most important of these are:
  • Breast cancer at the age of 35 or earlier.
  • Two or more first-degree relatives with breast cancer (average age < 50) or ovarian cancer (at any age).
  • Three or more close relatives with breast and/or ovarian cancer within two generations (at least one cancer under the age of 50).
  • Male breast cancer (at any age).
  • Detected BRCA mutation in the family
If any of the above conditions apply to you, it is definitely worthwhile considering the BRCA test.
The risk of which cancers does the presence of a BRCA mutation increase?
BRCA mutations mainly increase the risk of the development of breast and ovarian cancers. At the same time, though to a lesser extent, they can contribute to the development of several other tumorous diseases such as colorectal cancers, pancreatic cancers, prostate cancer, etc.
Does a BRCA mutation increase the risk of breast cancer in women only?
No, BRCA mutations increase the risk of breast cancer in men as well, though to a much lesser extent than in women.
What happens, if I am found to have a BRCA mutation?
The genetic counsellor or the physician may suggest different alternatives for BRCA mutation carrier patients, depending on the circumstances, in order to prevent the development of the tumorous disease. This may include increasing the number of control tests to identify the tumour as soon as possible or the removal of the breasts and/or ovaries. The decision, however, is always in the hands of the patient. Knowledge of being a BRCA mutation carrier does not imply any compulsory action for the patient.
Are there special therapeutic possibilities for BRCA-carrier cancer patients?
Yes, a personalized, effective cancer therapy with mild side-effects is available for ovarian cancer patients carrying a BRCA mutation. The drug olaparib, which was approved in 2015 in Europe, specifically destroys BRCA mutant cancer cells and leaves the healthy ones intact.
What kind of sample is required for the BRCA test?
Our lab can determine whether someone carries a BRCA mutation from several types of samples. The test can be performed using blood or scrapes from the oral mucosa. For cancer patients, the BRCA test can be done using surgical samples.
Are BRCA mutations inherited only?
No, BRCA mutations can develop locally in the cancerous cells of the patient; this is called a somatic mutation. However, the prevalence of these somatic mutations is much lower than that of hereditary mutations. Non-hereditary (somatic) mutations can only be detected using tissues taken from the tumour.

Scientific background

Targeted therapy brought revolutionary changes in the treatment of the most frequent tumorous disease in women as well. With a targeted drug designed to inhibit a biomarker, the HER2 gene, which can be identified in a certain portion of breast cancer patients, the process of tumorigenesis can be hindered effectively, and thus significant improvement can be achieved in the condition these patients.

HER2 in breast cancer: a review and update.
dv Anat Pathol. 2014 Mar;21(2):100-7. doi: 10.1097/PAP.0000000000000015.
Krishnamurti U1, Silverman JF.

A new milestone has been reached recently in the therapy of breast and ovarian cancers. Personalized, targeted tumour therapy was developed for the defects of the BRCA1 and BRCA2 genes that were described more than two decades ago, providing an efficient therapy with mild side effects for ovarian cancer patients. The mode of operation of the recently developed therapy is a good example of cases in which the drug does not affect the defective gene or the protein encoded by it, but cuts the escape route of cancer cells by inhibiting the protein that would ensure their survival after DNA damage. The Poly (ADP-ribose) polymerase (PARP) protein has an enzyme activity that is involved in the repair of DNA damage, just as the BRCA1 and BRCA2 proteins.


Inhibition of Poly(ADP)-Ribose Polymerase as a Therapeutic Strategy for Breast Cancer
Review Article | January 15, 2010 | Oncology Journal, Breast Cancer, Ovarian Cancer, Triple-Negative Breast Cancer
By Elizabeth A. Comen, MD and Mark Robson, MD

It has long been known that in a certain percent of hereditary breast and ovarian cancers the BRCA1 or BRCA2 genes carry a mutation. The mutant copy increases the risk of cancer development because an important DNA repair mechanism of the cell is defective. If a targeted PARP inhibitor blocks the other significant repair system, the cells are not able to repair the damage in their DNA and die. At the same time, the healthy cells that carry the normal copy of the BRCA gene are not damaged.

Olaparib: an oral PARP-1 and PARP-2 inhibitor with promising activity in ovarian cancer.
Gunderson CC, Moore KN.
Future Oncol. 2015;11(5):747-57. doi: 10.2217/fon.14.313. Review.