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
CHEK2 MLH1 PIK3CA RAD54L CTNNB1 MLH1 KLLN RAD51 NQO2 APC RAD50 TP53 STK11 RAD51C PHB RAD51C PTEN BRCA1 KRAS CDH1 AKT1 NTHL1 IDH2 MRE11 TWIST1 TP53 XRCC3 BARD1 ATR CHEK2 CDH1 BRIP1 POLE AKT1 BRCA1 TP53 MSH2 CDKN2A BARD1 PALLD SEC23B CDKN2A SEC23B STK11 NBN RB1CC1 BRCA2 RAD51 BRCA2 AAGAB POLD1 AKT1 TP53 RNF43 NTHL1 IDH1 COL14A1 BRCA2 CHEK2 PALB2 TP53 RAD51D WRN KRAS BRIP1 PPM1D SDHB SLC6A17 HMMR SMAD4 MSH2 MSH6 PRKN AKT1 USF3 ESR1 BRCA2 PTEN SDHC PALB2 CHEK2 PIK3CA CASP8 PIK3CA PIK3CA ATM MDM2 FGFR2 APC OPCML BRCA1 BRCA1 SLC22A18 BRCA1 PTEN SDHD PALB2
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