Web-service results
Cancer risk results are returned in JSON format. The mutation frequency, sensitivity values and cancer incidence rates used in the calculations are reported along with the version of the breast or ovarian cancer model and a timestamp. The results for each family in the input are given in 'pedigree_result' as an array and can be identified by their 'family_id'. The baseline/population, lifetime, ten year range (40-49) and remaining lifetime risks are given.
The remaining lifetime risks are reported in the 'cancer_risks' array. The baseline are given in the 'baseline_cancer_risks' array. Lifetime and 10 year age range risks are given in 'lifetime_cancer_risk' and 'ten_yr_cancer_risk' arrays respectively. The mutation carrier probabilities are reported in the 'mutation_probabilties' array for each of the genes.
Example BOADICEA result
{
"cancer_incidence_rates": "UK", "mutation_frequency": { "UK": { "ATM": 0.001921, "BRCA1": 0.0006394, "BRCA2": 0.00102, "CHEK2": 0.002614, "PALB2": 0.000575 } }, "mutation_sensitivity": { "ATM": 0.9, "BRCA1": 0.9, "BRCA2": 0.9, "CHEK2": 1.0, "PALB2": 0.9 }, "pedigree_result": [ { "baseline_cancer_risks": [...], "baseline_lifetime_cancer_risk": [...], "baseline_ten_yr_cancer_risk": [...], "cancer_risks": [...], "family_id": "XXX0", "lifetime_cancer_risk": [...], "mutation_frequency": {}, "mutation_probabilties": [...], "proband_id": "PB", "risk_factors": {...}, "ten_yr_cancer_risk": [...] }, { "baseline_cancer_risks": [ { "age": 50, "breast cancer risk": { "decimal": 0.0027964, "percent": 0.3 }, "ovarian cancer risk": { "decimal": 0.0003118, "percent": 0.0 } }, ... { "age": 80, "breast cancer risk": { "decimal": 0.105944, "percent": 10.6 }, "ovarian cancer risk": { "decimal": 0.0188553, "percent": 1.9 } } ], "baseline_lifetime_cancer_risk": [ { "age": 80, "breast cancer risk": { "decimal": 0.1302535, "percent": 13.0 }, "ovarian cancer risk": { "decimal": 0.024199, "percent": 2.4 } } ], "baseline_ten_yr_cancer_risk": [ { "age": 50, "breast cancer risk": { "decimal": 0.0208368, "percent": 2.1 }, "ovarian cancer risk": { "decimal": 0.0026098, "percent": 0.3 } } ], "cancer_risks": [ { "age": 50, "breast cancer risk": { "decimal": 0.0026914, "percent": 0.3 }, "ovarian cancer risk": { "decimal": 0.0002686, "percent": 0.0 } }, ... { "age": 80, "breast cancer risk": { "decimal": 0.0916656, "percent": 9.2 }, "ovarian cancer risk": { "decimal": 0.0170622, "percent": 1.7 } } ], "family_id": "XXX2", "lifetime_cancer_risk": [ { "age": 80, "breast cancer risk": { "decimal": 0.11375, "percent": 11.4 }, "ovarian cancer risk": { "decimal": 0.0210053, "percent": 2.1 } } ], "mutation_frequency": { "Ashkenazi": { "ATM": 0.001921, "BRCA1": 0.008, "BRCA2": 0.006, "CHEK2": 0.002614, "PALB2": 0.000575 } }, "mutation_probabilties": [ { "no mutation": { "decimal": 0.9799465, "percent": 98.0 } }, { "BRCA1": { "decimal": 0.005933, "percent": 0.6 } }, { "BRCA2": { "decimal": 0.0051235, "percent": 0.5 } }, { "PALB2": { "decimal": 0.0008133, "percent": 0.1 } }, { "CHEK2": { "decimal": 0.004789, "percent": 0.5 } }, { "ATM": { "decimal": 0.0033947, "percent": 0.3 } } ], "proband_id": "1", "risk_factors": { "age_of_first_live_birth": "-", "age_of_menopause": "-", "alcohol_intake": "-", "bmi": "18.5-<25", "height": "159.65-<165.96", "mammographic_density": "-", "menarche_age": "12", "mht": "-", "oral_contraception": "-", "parity": "1" }, "ten_yr_cancer_risk": [ { "age": 50, "breast cancer risk": { "decimal": 0.0194733, "percent": 1.9 }, "ovarian cancer risk": { "decimal": 0.002141, "percent": 0.2 } } ] } ], "timestamp": "2019-08-06T11:51:17.864664+01:00", "version": "BOADICEA-Model_v5.1.2", "warnings": [ "mutation frequencies set to Ashkenazi Jewish population values for
family (XXX2) as a family member has Ashkenazi Jewish status." ] }