SNPMiner Trials by Shray Alag


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Report for SNP rs1800566

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Tailored Neoadjuvant Epirubicin and Cyclophosphamide (EC) and Nanoparticle Albumin Bound (Nab) Paclitaxel for Newly Diagnosed Breast Cancer

The aim of this project is to evaluate tailored primary systemic therapy with sequential nab paclitaxel and epirubicin and cyclophosphamide in early breast cancer. This study will be an open label phase II clinical trial. The hypothesis is that tailored neoadjuvant chemotherapy with sequential nab paclitaxel and epirubicin and cyclophosphamide is feasible and achieves high response rates. It is proposed that 60 patients will be enrolled in this study including 40 patients which are likely to have chemotherapy sensitive tumors and 20 patients who have ER positive tumors and are more likely to respond to hormonal treatment as an exploratory cohort. The target population is women with early breast cancer who are eligible for primary systemic therapy. The overall response rate in the breast will be measured. Secondary endpoints will include response rates in axillary lymph nodes, safety and tolerability and the rate of breast conservation. Participants will have a blood test to determine a specific genotype status that may help in predicting sensitivity to chemotherapy. This genotype test result is exploratory and will not influence selection of therapy for participants. Patients will also be given the option of having he their tumour tissues used in laboratory studies involving isolating cancer initiating cells from the tumor to subsequently generate breast cancer models in the laboratory and using aptamers (chemical antibodies) to target tumours.

NCT01830244 Breast Cancer Drug: Nab-Paclitaxel
MeSH: Breast Neoplasms
HPO: Breast carcinoma Neoplasm of the breast

A homozygous common missense variant (NQO1*2, rs1800566(T), NM_000903.2:c.558C4T) that disables NQO1 strongly has been shown to predicts poor survival among two independent series of women with breast cancer, an effect particularly evident after anthracycline based adjuvant chemotherapy with epirubicin[44].

Primary Outcomes

Description: Pathological complete response defined as breast only, ypT0/ ypTis regardless of nodal status

Measure: Pathological complete response in the breast

Time: 24 weeks (time window + 4 weeks)

Secondary Outcomes

Description: Pathologic assessment

Measure: Pathologic Response rate in breast and axillary lymph nodes

Time: 24 weeks (time window + 4 weeks)

Description: Pathologic assessment

Measure: Rate of pathologic complete response and near complete response in the breast combined

Time: 24 weeks (time window + 4 weeks)

Measure: Breast conservation rate

Time: 24 weeks (time window + 4 weeks)

Measure: Progression Free Survival

Time: 5 years

Description: Safety will be measured using NCI Common Toxicity Criteria for Adverse Effects version 4.0

Measure: Safety and tolerability

Time: During treatment (24 weeks)

Other Outcomes

Measure: NQ01*2 genotype (P187S) status

Time: Baseline


HPO Nodes


Breast carcinoma
Genes 95
TP53 PPM1D CTNNB1 TP53 COL14A1 AKT1 AKT1 OPCML MDM2 BRCA1 SLC22A18 POLE BRCA2 BRCA1 SDHC NTHL1 PTEN XRCC3 MSH6 IDH1 RAD51C RAD51C CASP8 RB1CC1 PIK3CA PALLD KRAS PIK3CA CHEK2 BRIP1 MRE11 NTHL1 ATM TP53 RAD51D STK11 PRKN ESR1 PIK3CA KLLN MSH2 SDHD KRAS SEC23B HMMR PTEN POLD1 PIK3CA IDH2 BRCA1 PALB2 BRIP1 TP53 RAD51 RNF43 BARD1 BARD1 AAGAB AKT1 SMAD4 RAD50 STK11 CHEK2 RAD54L NBN CDKN2A SEC23B CDH1 WRN NQO2 PALB2 ATR PALB2 TWIST1 SDHB MSH2 BRCA2 BRCA1 RAD51 CHEK2 MLH1 BRCA1 FGFR2 TP53 PHB BRCA2 CDH1 PTEN BRCA2 CHEK2 CDKN2A APC MLH1 AKT1 APC