Genetic diagnosis of malignant tumors

I. Hereditary form of breast and ovarian cancer - concerns 5 - 10% of breast carcinomas

Prognosis: lifetime risk for a mutation carrier

BRCA1		BRCA2
85%	Occurrence of breast cancer	85%
60%	Occurrence of ovarian cancer	20%

Indication for genetic counseling:

• 2 and more first-degree relatives with breast cancer
• 2 and first-degree relatives with ovarian cancer
• first-degree relatives with breast + ovarian cancer
• duplicity of breast and ovarian cancer (both tumors at the same time) without a history in the family
• breast tumor in a woman under 35 years of age or in a man

WE ALWAYS BEGIN WITH TESTING THE PATIENT WITH THE TUMOR.

Care of healthy carriers of a mutation – dispensary care (monitoring) is provided by a clinical oncologist and a gynaecologist

II. Hereditary nonpolyposis colorectal cancer (hereditary form of colorectal cancer) – Lynch syndrome, makes 5% of all colorectal carcinomas

Risks: development of colorectal cancer in 75% of carriers of a defective gene

III. Familiar adenomatous polyposis (FAP, hereditary form of colonic cancer with numerous polyps) - makes 1% of all colorectal carcinomas