Genetic counseling in familial breast and ovarian cancer (HBOC syndrome)

The risk of a woman developing breast cancer in the course of her life is 12-13%. For ovarian cancer, this is significantly lower at around 1%. If there is a cluster of breast and ovarian cancer cases in the family, very young patients or a special tumor biology, there may be an underlying familial syndrome (genetic cause). In this case, the risk of illness increases many times over.

In general, the risk of a woman developing breast cancer in the course of her life is around 12%. This disease is very rare in men. The risk of developing ovarian cancer over the course of a lifetime is around 1%. 5-10% percent of breast cancers and 15-20% of ovarian cancers are genetic. Changes in the genome (gene mutations) in the BRCA1 and 2 genes are thought to be responsible for around 50% of genetic breast cancers and around 25% of genetic ovarian cancers. In addition to BRCA1 and 2, other risk genes are now also known. However, specific preventive measures are not available for all known gene mutations.

BRCA-1 and BRCA-2 genes

The BRCA-1 and BRCA-2 genes are tumor genes that are known to significantly increase the risk of developing breast cancer. If you have a BRCA 1 or 2 mutation, the risk of breast or ovarian cancer is significantly increased compared to the baseline risk in the population. It is therefore important to identify families and individuals with a mutation in order to be able to offer and initiate appropriate preventive measures.

In healthy individuals, a familial – i.e. possibly hereditary (genetic) – risk of breast or ovarian cancer must be considered if there is a family history of breast, ovarian or other specific cancers (prostate and pancreatic cancer).

For people diagnosed with breast or ovarian cancer, the question of tumor genetic counseling always arises based on family history, age, tumor type and, if applicable, the presence of a known genetic mutation in the family. If a gene mutation is detected, therapeutic and prophylactic measures can be discussed.

When is genetic counseling useful?

Genetic testing is considered useful if the mutation detection enables therapeutic, preventive or prophylactic measures to be taken and/or enables the counseling and testing of other family members.

  • In principle, every patient diagnosed with breast or ovarian cancer should be asked for a tumor genetic consultation
  • The age of the patient and the number of cases of breast or ovarian cancer in a family are decisive for testing
  • In families with a confirmed mutation, relatives should be offered counseling and testing.
For self-registration

Genetic counseling and testing procedure

  • Before genetic testing, a detailed discussion should be held with the patient or person seeking advice. Referrals to our consultation hours can be made by the family doctor, the gynecologist in charge or by the gynecologist in charge, but also in case of personal interest and need for information due to numerous sick family members.
  • In preparation for the interview, you will receive a list of questions and a family tree template to fill out. This information is very important for later consultation.family tree template
  • A detailed family tree is then drawn up together with the doctor. Your risk can then be assessed and a decision made as to whether genetic testing makes sense.
  • Genetic testing requires a blood sample to be taken and analyzed in an external laboratory. After receiving the result (approx. four weeks waiting time), a further consultation usually takes place during our consultation hours. Here, topics such as prevention options, possible prophylactic operations or advice for relatives are discussed.
  • Unclear findings can make it difficult to assess the risk and cause psychological stress and insecurity for those affected. Some findings may be able to be clearly interpreted in the future, others remain unclear and only the statistical risk remains as a possible basis for advice. In particularly complicated family constellations, a referral to the human genetics institute may also be necessary in rare cases.

Does health insurance cover genetic counseling?

As a rule, a cost approval is obtained from the insured person’s health insurance fund beforehand. The costs of genetic counseling and testing must be covered by health insurance if the Swiss guidelines for genetic counseling and testing of the SAKK are met.

Responsible specialist

Heike Frauchiger-Heuer, Dr. med.

Attending Physician with extended responsibilites, Department of Gynecology

Tel. +41 44 255 42 37
Specialties: Senology (diagnosis and treatment of benign and malignant breast tumors), Breast surgery (senior breast surgeon), Drug tumor therapy

For patients

You can either register yourself or be referred by your primary care physician or gynecologist.

Tel. +41 44 255 51 50

Monday – Friday from 7.45 a.m. – 4.45 p.m.

Self-registration

For referrering physicians

University Hospital Zurich
Department of Gynecology
Frauenklinikstrasse 10
8091 Zurich

Tel. +41 44 255 51 50
Patient registration form

Responsible Department

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