SNPMiner Trials by Shray Alag


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Report for SNP rs704010

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Predictive Value of Combined Criteria to Tailor Breast Cancer Screening and New Opportunities From Circulating Markers. The Andromeda Study.

Some women have a higher risk than others of developing breast cancer. Unhealthy lifestyles, high breast density, family history, obesity, the presence of biomarkers associated with early neoplastic changes (considered alone or in combination) are just some of main factors that can increase the risk of breast cancer. Women with a higher risk may need to undergo more intensive screening activities, which include more frequent inspections and the possibility of experiment different types of tests. Instead, low risk women could be screened at longer intervals in order to reduce the screening harms (false positive results, overdiagnosis, radiation exposure, discomfort caused by the test itself, etc.) The ANDROMEDA Study aims at creating the possibility to customize the screening paths through a combined analysis of the above mentioned risk factors. Women consenting to be involved in the study will be asked to provide information on their lifestyle habits and reproductive history. Furthermore a blood sample will be collected for further bio-molecular analysis purposes.

NCT02618538 Breast Cancer
MeSH: Breast Neoplasms
HPO: Breast carcinoma Neoplasm of the breast

The 18 breast cancer risk related SNPs are: rs11249433, rs1045485, rs13387042, rs4973768, rs10941679, rs889312, rs2046210, rs13281615, rs1011970, rs2981582, rs2380205, rs10995190, rs704010, rs3817198, rs614367, rs999737, rs3803662 and rs6504950.

Primary Outcomes

Description: The primary outcome measure is to estimate in a large cohort of women attending BC screening, the predictive positive values of different BC risk factors (alone or in combination) in order to identify appropriate risk-based stratifications for personalised screening.

Measure: PPV (Positive Predictive Value) of BC risk factors

Time: 2 years

Secondary Outcomes

Description: investigate whether selected circulating miRNAs previously found associated to BC risk are significantly altered in the plasma of cancer patients compared to matched healthy controls and if they satisfy pre-specified true- and false-positive rates that are considered minimally acceptable in the screening setting.

Measure: Circulating biomarkers association with breast cancer

Time: 2 years


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