Breast cancer is the first common cancer in women and the second most common cancer overall. More than two million new patients with breast cancer have been reported in 2018.
AxenTM BRCA 1/2
AxenTM BRCA 1/2 test is a genetically analysis whether a woman have pathogenic mutations in BRCA1 and BRCA2 genes. All areas of the BRCA 1/2 gene, which is the representative cause of hereditary breast cancer, are analyzed to diagnose a person’s risk of breast cancer. Mutations in the BRCA 1/2 gene greatly increase the risk of breast cancer.
It is available for both germline and somatic variants, detecting SNP and InDel for 53 genes and CNV for BRCA1/2 genes.
APC, APOBEC3A, APOBEC3B, APOBEC3G, ATM, ATR, BARD1, BLM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FAM175A, FANCC, FANCM, GJB1, GJB2, MEN1, MFN2, MLH1, MPZ, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMP22, PMS2, POLD1, POLE, POU3F4, PRPF31, PRPH2, PTEN, RAD51B, RAD51C, RAD51D, RB1, RECQL, RET, RHO, RINT1, RP1, RPGR, SLC26A4, STK11, TECTA, TP53, USH2A, VHL
MLPA for BRCA1/2 genes
Since large insertion and deletion are not usually detected by sequence analysis of the complete BRCA1/2 genes, MLPA screening can cover the undetected area.
- Early onset breast cancer (under 50 years of age)
- Bilateral or multiple breast cancers
- Diagnosed with both breast and ovarian cancer
- Family history of breast and/or ovarian cancer
- Two or more BRCA1 or 2 related cancers on a single family member
- 1~2cc of blood or 200ng of gDNA: for AxenTM BRCA 1/2
- Somatic variants (500ng of DNA from FFPE, tissue or FFPE slides), Germline variants (300ng of gDNA): for AxenTMBRCA Premium.
- 100ng of DNA in 5ul of volume: for MLPA test.
2-4 weeks from sample’s arrival at clinical lab.