“It is time to offer genetic screening of BRCA1 and BRCA2 genes to every women”
Dr. Marie-Claire King (discoverer of BRCA1 gene)
Breast cancer genetics
BRCA1 ir BRCA2 genes
ATM, NBN, BLM, NF1
Familial breast cancer (15-30%)
Sporadic breast cancer (60-80%)
Breast cancer is the most common oncological women disease in developed countries. There is around 10% lifetime risk of developing breast cancer for every women (i.e., 1 in 10).
Although the majority of breast cancer cases are sporadic, up to 10-15% are inherited. This means that the disease is caused by pathogenic known genetic defects (gene mutations) that can be passed from generation to generation. Moreover, when there is a significant history of breast cancer in a family, hereditary component is almost guaranteed.
About 15-30% of women with breast cancer have relatives affected by the same disease, what is called familial breast cancer. Familial breast cancer is due to a variety of known and unknown genetic variants (eg. SNP, single nucleotide polymorphisms), and environmental factors.
BRCA1 and BRCA2 gene mutations are the main and most important breast and ovarian cancer genetic risk factors, which testing is recommended for ALL WOMEN.
Since gene mutations are inherited by both women and men, genetic testing is also important to MEN.
There are at least 19 known genes which mutations confers increased breast and ovarian cancer risk. Regardless of your family history only comprehensive testing can determine if you carry a gene mutation.
Breast cancer risk (associated genes)
Comprehensive oncogenetic test of gene panels using modern next generation sequencing (NGS) technology is the most precise method for genetic breast cancer risk assessment.
A single comprehensive genetic ONCORISK61 test evaluate cancer predisposing mutations in 61 genes at once, at least 19 of which are associated with increased ovarian and breast cancer risk (mutations in other genes are associated with other cancer risk, such as uterine, colorectal, stomach, pancreas, skin, prostate): BRCA1, BRCA2, TP53, PTEN, STK11, CDH1, PALB2, ATM, BRIP1, BARD1, CHEK2, RAD51C, RAD51D, MLH1, MSH2, MSH6, PMS2, EPCAM,MUTYH, APC, BMPR1A, SMAD4, GREM1, POLD1, POLE, NBN,SMARCA4, NF1, MITF, BAP1, CDKN2A, CDK4.
BRCA1/2 breast and ovarian cancer risk
Breast cancer risk
Ovarian cancer risk
BRCA1/2 genes are responsible for half hereditary breast cancer cases
Effective hereditary cancer risk reduction methods exist
Onset of breast MRI screening
Breast cancer risk reduction (after mastectomy)
Breast cancer risk reduction (after salpingoophorectomy)
Full BRCA1 and BRCA2 mutation testing (incuding counselling)