BRCA gene mutations: Different detection methods


🧬 BRCA gene mutations: Different detection methods

🔍 There are two types of mutations:

Somatic: occur in non-reproductive cells and are not transmitted to offspring. They appear immediately in the body where they originate.

Generative: mutations of germ cells are inherited and appear in the next generation.

🔬 How mutations are detected:

Generative: most often through blood or saliva tests.

Somatic: determined by biopsy of the tumor or metastases. The quality and shelf life of the material are important.

👩‍⚕️ Important Application:

Based on generative mutations of BRCA 1 and 2, a decision is made on the use of PARP inhibitors for the treatment of breast cancer.

Testing is recommended for women with a family history of breast or ovarian cancer.

🌟 Angelina Jolie effect:

Surgeries to remove the breasts and ovaries can reduce the risk of breast cancer by 97% and ovarian cancer by 95% when the mutation is detected.

It is important to carefully weigh the indications for surgery, taking into account individual risks and possible side effects.

👉 Remember:

Making a decision about surgical intervention requires an integrated approach, especially in young women, taking into account possible consequences, such as artificial menopause, osteoporosis, and cardiovascular complications.

#Genetics #BreastCancer #Oncology #Women's Health #MedicalInformation

Dr. Med. Sergey Popovich22.01.2024