Elig.phs000480.v1.p1.1
Item
*Inclusion criteria for families:*
boolean
C1512693 (UMLS CUI [1,1])
Elig.phs000480.v1.p1.2
Item
Family history of breast cancer with three or more women diagnosed with breast cancer under age 60 among first and second-degree relatives of probands.
boolean
C1512693 (UMLS CUI [1,1])
C0559119 (UMLS CUI [1,2])
C0043210 (UMLS CUI [1,3])
C1828181 (UMLS CUI [1,4])
C0449788 (UMLS CUI [1,5])
C1517194 (UMLS CUI [1,6])
C1519210 (UMLS CUI [1,7])
C0392760 (UMLS CUI [1,8])
Elig.phs000480.v1.p1.3
Item
Clear evidence of Mendelian segregation of disease.
boolean
C1512693 (UMLS CUI [1,1])
C0006142 (UMLS CUI [1,2])
C0683231 (UMLS CUI [1,3])
Elig.phs000480.v1.p1.4
Item
Germline DNA samples available from at least two second-degree relatives affected with breast cancer under age 60.
boolean
C1512693 (UMLS CUI [1,1])
C0470187 (UMLS CUI [1,2])
C2986526 (UMLS CUI [1,3])
C1519210 (UMLS CUI [1,4])
C0006142 (UMLS CUI [1,5])
C1828181 (UMLS CUI [1,6])
Elig.phs000480.v1.p1.5
Item
No BRCA1 or BRCA2 pathogenic mutation identified from complete screen of coding sequences and intron-exon junctions.
boolean
C1512693 (UMLS CUI [1,1])
C2317641 (UMLS CUI [1,2])
C0549184 (UMLS CUI [1,3])
C1512693 (UMLS CUI [2,1])
C2317644 (UMLS CUI [2,2])
C0549184 (UMLS CUI [2,3])
Elig.phs000480.v1.p1.6
Item
*Exclusion criteria:*<br />
boolean
C0680251 (UMLS CUI [1,1])
Elig.phs000480.v1.p1.7
Item
≤3 women diagnosed under age 60 years among first and second-degree relatives of proband.
boolean
C0680251 (UMLS CUI [1,1])
C1828181 (UMLS CUI [1,2])
C0449788 (UMLS CUI [1,3])
C1517194 (UMLS CUI [1,4])
C1519210 (UMLS CUI [1,5])
C0392760 (UMLS CUI [1,6])
Elig.phs000480.v1.p1.8
Item
Male breast case in family.
boolean
C0680251 (UMLS CUI [1,1])
C0241889 (UMLS CUI [1,2])
C0242787 (UMLS CUI [1,3])
Elig.phs000480.v1.p1.9
Item
BRCA1 or BRCA2 pathogenic mutation present in germline DNA from any family member.
boolean
C0680251 (UMLS CUI [1,1])
C2317641 (UMLS CUI [1,2])
C3845275 (UMLS CUI [1,3])
C0086282 (UMLS CUI [1,4])
C0680251 (UMLS CUI [2,1])
C2317644 (UMLS CUI [2,2])
C3845275 (UMLS CUI [2,3])
C0086282 (UMLS CUI [2,4])
Elig.phs000480.v1.p1.10
Item
Inactivating mutation in any other known breast cancer predisposition gene.
boolean
C0680251 (UMLS CUI [1,1])
C0026882 (UMLS CUI [1,2])
C0017337 (UMLS CUI [1,3])
C0220898 (UMLS CUI [1,4])
C0006142 (UMLS CUI [1,5])
Elig.phs000480.v1.p1.11
Item
No first or second degree relative pairs affected with breast cancer with available DNA samples.
boolean
C0680251 (UMLS CUI [1,1])
C0686905 (UMLS CUI [1,2])
C2986526 (UMLS CUI [1,3])
C0006142 (UMLS CUI [1,4])
C1517194 (UMLS CUI [1,5])
C1519210 (UMLS CUI [1,6])