Cancer is a leading cause of death worldwide and it has been estimated that 5-10% of all cancers are hereditary i.e. passed down from one generation to the next. Genetic Testing for the presence of germline genetic variants provides many benefits to patients and their family members and forms an important part of cancer care.
Genetic testing for hereditary cancer can help you, the healthcare practitioner, to:
Genseq offer a range of Hereditary Cancer gene panels (see table below). These are in silico panels based on whole exome sequencing (WES) data. All panels include single nucleotide variants (SNV), small insertions/deletions (indels), and copy number variation (CNV) analysis.
HCE1001
Hereditary Breast Cancer Panel
8
BRCA1, BRCA2, CDH1, PALB2, PTEN, RECQL, STK11, TP53
HCE1002
Hereditary Breast and Gynaecological Cancer Panel
28
ATM, BARD1, BLM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, FANCM, MLH1, MRE11A, MSH2, MSH6, NBN, NF1, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, RECQL, SMARCA4, STK11, TP53, XRCC2
HCE1001b
Hereditary Cancer - BRCA1/BRCA2
2
BRCA1, BRCA2
HCE1003b
Hereditary Cancer - Lynch Syndrome Panel
5
EPCAM, MLH1, MSH2, MSH6, PMS2
HCE1003
Hereditary Colorectal Cancer and Polyposis Panel
21
APC, AXIN2, BLM, BMPRIA, CDH1A, EPCAM, GREM1, MBD4, MLH1, MSH2, MSH3, MSH6, MUTYH1, NTHL1, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, TP53