RDx testing can determine inherited gene mutations that influence breast cancer, including BRCA1 and BRCA2, as well as TP53, PTEN, STK11, CDH1, PALB2, CHEK2, ATM, NBN, BARD1 and BRIP1
They did not find a relationship between the BRIP1
, RAD51C, RAD51D, MSH2, or PMS2 genes and a higher risk of breast cancer, despite other research that suggested such a link.
YND incelemesi ile 31 ailenin indeks olgularinin besinde, 4 farkli gende (FANCA, NIPBL, ESCO2, BRIP1
) 6 farkli mutasyon saptandi.
The specific high-risk genes are BRCA1, BRCA2, RAD51C, RAD51D, and BRIP1
, plus Lynch syndrome (MLH1, MSH2, MSH6, PMS1, and EpCAM), and the minimum surgery for these women is a risk-reducing salpingo-oophorectomy (RRSO).
Genes Tested AtP ALK APC ATM BAP1 BRCA2 BRIP1
BUB1B CDC73 CDH1 CEP57 CHEK2 CYLD DDB2 DICER1 ERCC3 ERCC4 ERCC5 EXT1 EXT2 FANCD2 FANCE FANCF FANCG FANCI GATA2 GPC3 HNF1A HOXB13 HRAS MLH1 MHS2 MSH6 MUTYH NBN PHOX2B PMS1 PMS2 PPM1D PRF1 RAD51D RBI RECQL4 RET RHBDF2 SDHC SDHD SLX4 SMAD4 SMARCA4 TP53 TSC1 TSC2 VHL WT1 BARD1 BLM BMPR1A BRCA1 CDK4 CDKN1C CDKN2A CEBPA DI53L2 EGFR EPCAM ERCC2 EZH2 FANCA FANCB FANCC FANCL FANCM FH FLCN KIT MAX MEN1 MET NF1 NF2 NSD1 PALB2 PRKAR1A PTCH1 PTEN RAD51C RUN XI SBDS SDHAF2 SDHB SMARCB1 STK11 5UFU TMEM127 WRN XPA XPC This chart shows all 98 cancer susceptible genes included in this new test.
There are other genetic risk factors linked to breast cancer, such as CHEK2, BRIP1
, and PATB2, but they are not commonly tested for due to their rarity and "technological barriers" to their discovery.
Among these genes, 9 [aprataxin (APTX), aprataxin and PNKP like factor (APLF), X-ray repair cross complementing 4 (XRCC4), BRCA1 interacting protein C-terminal helicase 1 (BRIP1
), Fanconi anemia complementation group B (FANCB), Fanconi anemia complementation group M (FANCM), damage specific DNA binding protein 2 (DDB2), XPC complex subunit, DNA damage recognition and repair factor (XPC), and mutL homolog 3 (MLH3)] were over-expressed in CTC-MCC-41 cells and only 4 [DNA polymerase mu (POLM), RAD51 recombinase (RAD51), ERCC excision repair 1 (ERCC1), and tumor protein p53 binding protein 1 (TP53BP1)] in HT-29 cells.
Depletion of hnRNP C reduces the abundance of key HR proteins including BRCA1/2, RAD51, and BRIP1
by affecting alternative splicing .
(13-15) Genetic predisposition to ovarian cancer has also been shown to extend beyond these aforementioned genes, to BARDI, BRIP1
, CHEK2, MRE11A, MSH6, NBN, PALB2, RAD50, RAD51C, and TP53,11 the extent and clinical significance of which continues to be investigated.
But this risk increases to around 58 women in every 1,000 who have the mutated BRIP1
gene, say scientists.