But tests confirmed, she had stage 2 breast cancer and an inherited genetic mutation in a tumor suppressor gene called PALB2
-- which stands for partner and localizer of BRCA2.
Early data from the study are encouraging and suggest that first-line maintenance therapy with Rubraca following induction with platinum-based chemotherapy provides disease control with no new safety signals among patients with a pathogenic mutation in BRCA1, BRCA2 or PALB2
. Between 5 to 8 percent of patients with pancreatic cancer have a pathogenic mutation in BRCA1, BRCA2 or PALB2
 The following moderate- (to high) risk genes, for which international clinical management guidelines are available, account for most of these: CHEK2, PALB2
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 confirmed that two previously identified additional genes are associated with a higher risk of breast cancer (PALB2
, CHEK2), and two are associated with an increased risk of ovarian cancer (RAD51C, TP53).
These include mutations in the STKll (Peutz-jeghers syndrome), pTen (Cowden's Syndrome), p53 (Li-Fraumeni Syndrome), CDH1 (Diffuse Hereditary Gastric Cancer Syndrome), and PALB2
(partner and localizer of BRCA 2) genes (13, 14).
Over the past 10 to 20 years, other breast cancer susceptibility genes (eg, BRCA2, PALB2
, CHEK2) have been identified.
These include new predictive models, the identification of gene mutations other than BRCA (e.g., PALB2
, CHEK2, and others), the increased diagnosis of high-risk lesions, and the so-called "Angelina Jolie effect" [3-6].
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.
(54) In addition to BRCA variants, research also suggests variation in the PALB2
gene confers a 33% risk of breast cancer and increases risk of developing ovarian cancer, although studies on this particular variant are not as developed as research on the BRCA variants.
RING, RING (really interesting new gene) domain; PALB2
, partner and localizer of BRCA2; BRCT, BRCA1 c-terminus domain; NPM1, nucleophosmin 1; POLH, DNA polymerase eta; FANCD2, Fanconi anemia complementation group D2; SHFM1/DSS, 26S proteasome complex subunit protein DSS (deleted in split hand/split foot), encoded by the gene SHFM1; BRC repeats, breast cancer repeats; NES, nuclear export signal.