All colorectal cancer cases should be evaluated for hereditary Lynch syndrome
European Society of Medical Oncology (ESMO) recommendations
Hereditary colorectal cancer
MMR genes (MLH1, MSH2, MSH6, EPCAM, PMS2)
TP53, NBN, BLM
Mixed polyposis syndrome
Familial colorectal cancer
Around 30% of colorectal cancer (CRC) cases are due to genetic factors and 5-10% are due to known genes (hereditary colorectal cancer). Lynch syndrome (due to inherited mutations in mismatch repair (MMR) genes – MLH1, MSH2, MSH6, EPCAM ir PMS2) – is the main cause of hereditary colorectal cancer. Other genetic causes – various polyposis syndromes (APC, MUTH, POLD1, POLE, GREM1, BMPR1A, SMAD4, PTEN, NTHL1, MSH3, AXIN2).
Mutations in Lynch syndrome genes can also increase uterine, stomach, ovarian and other cancer types risk.
There are at least 19 known genes which mutations confers increased risk of colorectal cancer.
Oncogenetic testing helps to evaluate individual cancer risk and choose the most appropriate health care. Established management, screening and prevention options help to avoid cancer or detect changes at the earliest and the most curable stages.
Colorectal cancer risk (associated genes)
Comprehensive oncogenetic test of gene panels using modern next generation sequencing (NGS) technology is the most precise method for genetic colorectal 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 colorectal cancer risk (mutations in other genes are associated with other cancer risk, such as breast, ovarian, uterine, 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, NTHL1, MSH3, AXIN2, NBN, MITF, BAP1, CDKN2A, CDK4.