SNPMiner Trials by Shray Alag

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Report for SNP rs2241193

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials

1 Genetic Modifiers of BRCA1/BRCA2-Related Breast Cancer Risk in BRCA1/BRCA2 Mutation Carriers - CIMBA 5

RATIONALE: Studying samples of DNA in the laboratory from women who are BRCA1/BRCA2 mutation carriers may help doctors learn more about cancer and identify biomarkers related to cancer. PURPOSE: This research study is looking at breast cancer risk in women who are BRCA1/BRCA2 mutation carriers.

NCT00897455 brca1 Mutation Carrier brca2 Mutation Carrier Breast Cancer Genetic: DNA analysis Genetic: mutation analysis Genetic: polymorphism analysis Other: laboratory biomarker analysis Procedure: evaluation of cancer risk factors
MeSH:Breast Neoplasms
HPO:Breast carcinoma Neoplasm of the breast

Previously collected DNA samples are analyzed for genetic variants in selected candidate genes (rs16942 in BRCA1, rs2237060 in RAD50, "SNP3", and rs2241193 in IGFBP5).

Primary Outcomes

Measure: Identification of potential genetic modifiers of breast cancer risk

HPO Nodes

HP:0003002: Breast carcinoma
Genes 97
APC BRCA2 PPM1D AKT1 PALB2 IDH2 BRCA1 SLC22A18 BRCA1 SDHB XRCC3 STK11 PIK3CA PIK3CA TP53 STK11 RAD51D SDHD RNF43 AKT1 ATM ESR1 PTEN SMAD4 TP53 NTHL1 MRE11 CHEK2 PALB2 BRCA2 RAD51 BRCA1 AKT1 CHEK2 CHEK2 RAD51C RAD50 POLD1 CHEK2 ATR MSH2 PTEN TP53 SLC6A17 CDH1 COL14A1 POLE SEC23B TP53 BRCA1 KRAS RAD51 PTEN PALB2 TP53 OPCML PRKN USF3 NTHL1 SEC23B CASP8 RB1CC1 CTNNB1 AAGAB KRAS CDH1 NBN BRIP1 IDH1 MLH1 KLLN PIK3CA MSH6 APC PALLD HMMR WRN MDM2 BRIP1 BARD1 RAD54L RAD51C NQO2 CDKN2A TWIST1 MSH2 PIK3CA BARD1 FGFR2 SDHC AKT1 MLH1 PHB BRCA1 BRCA2 BRCA2 CDKN2A
Protein Mutations 73
A289T A864V C3435T D538G D769H D769N D769Y D988Y E380Q E542K E545K E709K E757A G309A G309E G598V G776C G776V H1047R I655V I767M L536H L536P L536Q L536R L755P L755S L786V L841V L858R L861Q L869R P125A P12A P13K P187S P535H P596L R108K R222C R572Y R678Q R831C R831H R849W R896C S310F S310Y S463P S653C S768I S8814A S9313A T47D T733I T790M T798I T798M T862I V244M V534E V600E V659E V697L V742I V769M V773M V774M V777L V842I Y537C Y537N Y537S
SNP 38
rs1011970 rs10407022 rs1045485 rs10941679 rs10995190 rs11045585 rs11133360 rs11249433 rs12762549 rs13281615 rs13387042 rs16942 rs1800566 rs2002555 rs2046210 rs2237060 rs2241193 rs2297480 rs236114 rs2380205 rs271924 rs2981582 rs3803662 rs3817198 rs4073 rs4646 rs4973768 rs614367 rs6504950 rs6971 rs704010 rs7333181 rs7349683 rs889312 rs909253 rs9344 rs9457827 rs999737