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Report for SNP rs7333181

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Evaluation of Individual Sensitivity to the Gonadotoxicity of Chemotherapy in Young Patients With Breast Cancer

Over the past decade, advances in diagnosis and treatments have dramatically increased the rates of cure for young patients with cancer. As a consequence, a new population of cancer survivors has emerged whose fertility is compromised after cancer therapy. Indeed, gonadotoxicity is a well-known long-term side effect of cancer treatment in young patients having survived malignant diseases. More than 80% of women of childbearing age, treated for breast cancer with standard protocol of neoadjuvant (4 cycles of 5-fluorouracile - epirubicin- cyclophosphamide (FEC) and 4 cycles of docetaxel) or adjuvant chemotherapy (3 FEC and 3 docetaxel), show an alteration of their ovarian reserve 2 years after completion of the treatment, as a result of chemotherapy-related follicular loss. Therefore, according to the extent of the follicular damages, the gonadal function may vary from moderate to severe diminished ovarian reserve (DOR) and possibly to the ultimate stage of premature ovarian insufficiency (POI). Investigators propose a multicentric and prospective study of a cohort of young women with breast cancer to evaluate whether genetic polymorphisms, previously identified as being correlated with age at menopause in the healthy population, are associated with the intensity of the follicular decline following chemotherapy in young breast cancer survivors.

NCT03731845 Breast Cancer Genetic: Blood sample for genetic test Biological: Blood sample for hormonal measurement Other: Ovarian ultrasound scan
MeSH: Breast Neoplasms
HPO: Breast carcinoma Neoplasm of the breast

Since these genes may have an influence on the ovarian reserve (together with the effects of gonadotoxic treatment regimens), investigators hypothesize that genetic polymorphisms known to be associated with age at menopause (BRSK1 (rs1 172822), ARHGEF7 (rs7333181), MCM8 (rs236114), PCSK1 (rs271924), IGF2R (rs9457827), TNF (rs909253), AMH (rs10407022) and AMHR2 (rs2002555) could be linked to the intensity of the follicular depletion after chemotherapy.

Primary Outcomes

Description: is an aggregated measure of FSH, AMH serum level, Antral Follicle Count and menstrual profile : Normal ovarian reserve: persistence of menstrual cycle, FSH<40 IU/L and AMH>1.1 ng/mL or AFC>7 follicles Moderate diminished ovarian reserve : persistence of menstrual cycle, FSH<40 IU/L and 0.5≤AMH≤1.1 ng/mL or 5≤AFC≤7 follicles Severe diminished ovarian reserve : persistence of menstrual cycle and AMH<0.5 ng/mL or AFC<5 follicles Premature ovarian insufficiency is defined by amenorrhea above four months and FSH level ≥40 IU/L in women before 40 years. AMH serum levels and ultrasonographic evaluation of AFC will be evaluated FIVEyears after the end of chemotherapy.

Measure: Assessment of ovarian reserve

Time: 5 years after completion of chemotherapy

Secondary Outcomes

Description: To evaluate the association between genetic polymorphisms and other parameters related to female fertility after chemotherapy such as the menstrual cycle profile. These data will be obtained from clinical interrogatory performed by medical doctors.

Measure: Menstrual profile: amenorrhea, spaniomenorrhea, normal cycle length (28-35 days)

Time: 5 years

Description: These data will be obtained from clinical interrogatory performed by medical doctors.

Measure: Pregnancy rates

Time: 5 years

Description: To assess the evolution of ovarian reserve tests at the end of chemotherapy AMH level will be performed before the initiation of chemotherapy and 6, 12, 24, 36, 48, 60 months following the end of chemotherapy.

Measure: AMH level

Time: 6, 12, 24, 36, 48, 60 months following the end of chemotherapy.

Description: To assess the evolution of ovarian reserve tests at the end of chemotherapy Measurements of ultrasonographic AFC will be performed before the initiation of chemotherapy and 6, 12, 24, 36, 48, 60 months following the end of chemotherapy.

Measure: Antral Follicle Count (Ultrasound evaluation)

Time: 6, 12, 24, 36, 48, 60 months following the end of chemotherapy.

Description: A follicular decline will be defined as a moderate/severe DOR or a POI

Measure: Follicular decline (definition below)

Time: 2 years after the completion of chemotherapy


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