BRCA Carrier | Case
Item
brca carriers (cases)
boolean
C0596223 (UMLS CUI [1,1])
C0007294 (UMLS CUI [1,2])
C1706256 (UMLS CUI [2])
High risk Screening Attending clinic
Item
attending one of the three participating high-risk screening centres
boolean
C4319571 (UMLS CUI [1,1])
C1710032 (UMLS CUI [1,2])
C0730261 (UMLS CUI [1,3])
BRCA1 gene mutation Status Genetic screening method | BRCA2 gene mutation Status Genetic screening method
Item
confirmed brca1 or brca2 mutation status through genetic testing
boolean
C1511022 (UMLS CUI [1,1])
C0449438 (UMLS CUI [1,2])
C0679560 (UMLS CUI [1,3])
C1511024 (UMLS CUI [2,1])
C0449438 (UMLS CUI [2,2])
C0679560 (UMLS CUI [2,3])
High risk | Case
Item
high-risk (cases)
boolean
C4319571 (UMLS CUI [1])
C1706256 (UMLS CUI [2])
High risk Screening Attending clinic
Item
attending one of the three participating high-risk screening centres
boolean
C4319571 (UMLS CUI [1,1])
C1710032 (UMLS CUI [1,2])
C0730261 (UMLS CUI [1,3])
BRCA1 gene mutation negative | BRCA2 gene mutation negative
Item
confirmed negative brca1/2 status through genetic testing
boolean
C1445907 (UMLS CUI [1])
C1445910 (UMLS CUI [2])
BRCA Noncarrier | Control Groups
Item
brca non-carriers (controls)
boolean
C0596223 (UMLS CUI [1,1])
C2986416 (UMLS CUI [1,2])
C0009932 (UMLS CUI [2])
Gail risk model | Risk Percentage BRCA Mutation | Other Coding
Item
attain a gail model score of <1.1 and have <10% risk of carrying the brca mutation determined by the penn ii model)
boolean
C1511297 (UMLS CUI [1])
C0035647 (UMLS CUI [2,1])
C0439165 (UMLS CUI [2,2])
C0596223 (UMLS CUI [2,3])
C0026882 (UMLS CUI [2,4])
C3846158 (UMLS CUI [3])
Control Groups | High risk Screening Attending clinic | BRCA1 gene mutation negative | BRCA2 gene mutation negative
Item
controls from high-risk screening centre with confirmed brca1/2 negative status through genetic testing
boolean
C0009932 (UMLS CUI [1])
C4319571 (UMLS CUI [2,1])
C1710032 (UMLS CUI [2,2])
C0730261 (UMLS CUI [2,3])
C1445907 (UMLS CUI [3])
C1445910 (UMLS CUI [4])
Sister BRCA Carrier | First cousin BRCA Carrier
Item
preference will be given to sisters or first degree cousins of brca carriers
boolean
C0337514 (UMLS CUI [1,1])
C0596223 (UMLS CUI [1,2])
C0007294 (UMLS CUI [1,3])
C0337583 (UMLS CUI [2,1])
C0596223 (UMLS CUI [2,2])
C0007294 (UMLS CUI [2,3])
Case | Control Groups
Item
cases and controls
boolean
C1706256 (UMLS CUI [1])
C0009932 (UMLS CUI [2])
Prior diagnosis Breast Carcinoma | Prior diagnosis Ovarian Carcinoma
Item
prior diagnosis or breast or ovarian cancer
boolean
C0332132 (UMLS CUI [1,1])
C0678222 (UMLS CUI [1,2])
C0332132 (UMLS CUI [2,1])
C0029925 (UMLS CUI [2,2])
Biopsy Bilateral | Fine needle aspiration Bilateral
Item
bilateral biopsy or fine needle aspiration within 1 year of study start
boolean
C0005558 (UMLS CUI [1,1])
C0238767 (UMLS CUI [1,2])
C1510483 (UMLS CUI [2,1])
C0238767 (UMLS CUI [2,2])
Bilateral mastectomy | Lumpectomy of breast | Alteration Cosmetic procedure | Cosmetic breast reduction | Cosmetic breast augmentation
Item
bilateral mastectomy, lumpectomy or cosmetic alteration (reduction/augmentation)
boolean
C0191877 (UMLS CUI [1])
C0851238 (UMLS CUI [2])
C1515926 (UMLS CUI [3,1])
C0442965 (UMLS CUI [3,2])
C1390445 (UMLS CUI [4])
C1390444 (UMLS CUI [5])
Chemotherapy | Prophylactic treatment | Tamoxifen
Item
previous or current chemotherapy or prevention therapy (tamoxifen)
boolean
C0392920 (UMLS CUI [1])
C0199176 (UMLS CUI [2])
C0039286 (UMLS CUI [3])
Pregnancy Recently
Item
less than 3 years post pregnancy at study start
boolean
C0032961 (UMLS CUI [1,1])
C0332185 (UMLS CUI [1,2])
Informed Consent Unable | Language problems | Impaired cognition
Item
inability to provide informed consent due to language or cognitive difficulties
boolean
C0021430 (UMLS CUI [1,1])
C1299582 (UMLS CUI [1,2])
C1405458 (UMLS CUI [2])
C0338656 (UMLS CUI [3])
Control Groups
Item
*for controls only
boolean
C0009932 (UMLS CUI [1])
Family history of breast cancer | Family member Early Diagnosis | Age
Item
family history of breast cancer where family member had an early diagnosis (before age 45 years)
boolean
C0559119 (UMLS CUI [1])
C0086282 (UMLS CUI [2,1])
C0596473 (UMLS CUI [2,2])
C0001779 (UMLS CUI [3])
Family history Ovarian neoplasm
Item
family history or ovarian cancer
boolean
C0241889 (UMLS CUI [1,1])
C0919267 (UMLS CUI [1,2])