24H
+34 952 908 628
My HC
Book an appointment
estudios genéticos
estudios genéticos

Breast unit

Gynecology

Fertility center

HC Cancer Center

Consultants

Genetic studies in breast cancer

Hereditary breast cancer

 

estudios genéticos cáncer de mama

Genetic studies

Between 5% and 10% of breast cancers are inherited and are part of what are known as hereditary cancer syndromes. Specific mutations in certain genes, such as BRCA1 and BRCA2 as well as other less prevalent genes, increase the risk of breast cancer and other associated cancers such as cancer of the ovary, pancreas, or prostate in men, in those who are carriers.

 

The identification of the BRCA1 and BRCA2 mutations has enabled great strides to be made in the prevention and early detection of breast cancer.

 
 

Who should undergo these genetic tests?

  • Women (and men) with a past history of breast cancer or with close relatives who have had breast, ovarian, or prostate cancer, or other types of cancer.
  • Those who have had breast cancer at an early age (under the age of 50).
  • Patients with breast and ovarian cancer.
  • Women with a male relative with breast cancer.
  • People of Jewish descent from Eastern Europe.
  • All women with a past history of ovarian cancer, regardless of their family history.

What is the test and what implications does it have?

  • Genetic testing is not just a blood test, it is a diagnostic process that reveals important information, often involving the patient and their family, and requires genetic counselling.

    •  

  • The doctor specialising in genetic counselling will review the entire family history, looking for a history of cancer and other risk factors to be able to request the test with the patient’s agreement. If the tests are indicated for the patient and the patient wishes to undergo the study, the genetic test will be performed on a blood sample which will be processed with the results reported within only a few weeks.

    •  

  • If the test is positive, it is vital to interpret the results for the person tested through subsequent genetic counselling, to analyse all available options. It should be noted that a positive result implies that there is a gene mutation predisposing the family to cancer and it may be necessary to extend the study to other members of the family.

Is being a carrier of the mutation synonymous with cancer?

  • Being a carrier of an oncogenic germline mutation does not mean cancer will be inherited but, it does imply a greater susceptibility to developing it, in other words, being at greater risk of suffering from it when compared to the population who do not carry the mutation.

    •  

  • If the test is positive, it is vital to interpret the results for the person tested through subsequent genetic counselling, to analyse all available options. It should be noted that a positive result implies that there is a gene mutation predisposing the family to cancer and it may be necessary to extend the study to other members of the family.

How likely is a child to inherit the family mutation?

  • Specific genetic alterations (mutations) in certain genes are found in all cells, transmitted through germ cells (eggs and sperm), giving subsequent generations a greater chance of developing certain types of cancer.

    •  

  • Their transmission, in most cases, follows a pattern of inheritance called autosomal dominant. This means that the altered allele is the dominant one, and only one copy is required for the disease to express itself. This makes the chances of inheriting one of these mutations as high as 50%.

Benefit of genetic studies

  • Deciding whether to undergo genetic testing is a personal choice, but it does allow measures to be taken for prevention and early diagnosis, both for the patient and their family.

 

Consultants

Tomas Arrazola

Dr. Arrazola, Tomás
Especialista en Farmacia Hospitalaria
Especializado en terapia contra el cáncer, certificado por la Sociedad Americana de Farmacéuticos de Hospital

HC Videos

Testimonies

Location of HC Marbella

Book an appointment

Tel.: +34 952 908 628
+34 609 148 799

952908898 Oncology
951829978 Diagnosis by imaging
951829947 Gynecology
952908897 Fertility
951829947 Physiotherapy

 

     

     

    I agree to receive e-mails with offers and news about this and other services. *

    YesNo

     

    Responsible: HC Hospitales, S.L. Purpose: Managing the appointment process. Sending you information by newsletter, upon your acceptance. Duration: The data is deleted once the information has been provided to you, unless you contract our services or request us to contact you in the future. With regard to the newsletter, the data is deleted when you unsubscribe from it. Recipients: We do not disclose your data to any other party. Rights: To access, rectify, and delete your data, as well as further rights explained in the additional information webpage: https://clientes.prodat.es/privacidad/MLG/HCMARBELLA

     

    Specialized Care

    Patient Services

    HC Professionals

    Subscribe to our newsletter

    Subscribe