In order to make the diagnosis and offer the most suitable treatment in each case, different diagnostic tests must be performed, as well as a pathological analysis of the lesion.
At the time of performing any diagnostic test, the skin should be clean and free of any deodorant or talc.
It is highly recommended that the patient be accompanied and should be notified in case she is on anticoagulant treatment.
Duration: between 30 and 45 minutes.
Important: The patient must be warned if she is allergic to gaudolini contrast, wears pacemakers or medical prostheses, and / or has claustrophobia.
Other: Analytics, PET, Nuclear Medicine tests.
Breast Cancer Screening
The Genetic Counseling Unit of the Parc Taulí Oncology Service assesses the risk that patients visited in the Breast Pathology Unit may have an inherited predisposition to breast cancer.
The goals of the Genetic Counseling Unit in Hereditary Cancer are: to promote cancer prevention, its early detection, and to assist in decision-making for primary and secondary cancer prevention.
- Assessment of hereditary cancer risk, considering personal and family history of neoplasia.
- Germline genetic study, in those cases where it is indicated.
- Advice and recommendations for the prevention and early detection of cancer, in the patient herself and in other members of her family.
- Discussion of the different options to reduce the risk of cancer.
- Assessment of potential therapeutic implications.
What is the genetic study?
The genetic study is done from a DNA sample, obtained from a peripheral blood sample. There are two types of genetic study:
1. Diagnostic genetic study: a complete genetic study that analyzes a panel of multiple genes that we currently know are associated with the hereditary predisposition to breast and ovarian cancer.
2. Predictive genetic study (also known as direct genetic study): study aimed at relatives, when in a family a pathogenic mutation responsible for the hereditary predisposition to cancer has already been detected.
In which cases is the diagnostic genetic study indicated?
The criteria for indicating a genetic study are dynamic and change over time, but in general, the most important factors to consider are: young age in the diagnosis of breast cancer (before 40 years), bilaterality, and family history of breast or ovarian cancer.
The medical and nursing team of the Breast Pathology Unit will inform you if it considers it appropriate to make a visit and an assessment by the Genetic Counseling Unit.
What implications can a positive outcome have for the patient?
A positive result may have therapeutic implications, both for local and systemic treatment, of which you will be informed by your doctor. It can also allow you to consider options for risk reduction and cancer prevention.
In each case, the best strategies for primary and secondary cancer prevention must be identified, taking into account the personal and family history of neoplasia and the mutated gene.
What implications can have a positive outcome for family members?
When a genetic mutation is detected in a person, their first-degree direct relatives (father, mother, siblings, children) have a 50% chance of carrying the same mutation.
Direct genetic study allows us to know which relatives have not inherited the mutation (true negative result) and, in these cases, their risk of cancer is equivalent to the risk of the general population.
Those relatives who have inherited the genetic mutation and are carriers of the mutation (true positive result), will receive the appropriate genetic advice to know the different options for the prevention and reduction of cancer risk, as well as reproductive options (prenatal diagnosis or preimplantation genetic diagnosis, among others).
Write and bring us your doubts
When we receive information as important as the diagnosis, it is normal to forget much of it and also to forget questions that arise in relation to it. For this reason they are made two consecutive informative visits.
We advise the patient that write in a notebook the questions and doubts that may arise, and to take her on a visit.