FamilyLabel UM Family 2

FamilyUM2PresentingHPOs HP:0012125 (Prostate Cancer)

FamilyNotHPOs n/a

CountryOrigin n/a

Ethnicity n/a

Race n/a

FamilyUM2PreviousTesting Screened nonsense and missense variants in 202 candidate genes comprising ~15.5Mb. Established evidence of linkage of 17q21-22.

Affected 3

Unaffected 1

Segregations n/a

PublishedLOD n/a

eLOD n/a

AddSegregationInfo One female typed negative(cannot have prostate cancer)

ProbandLabel UM2 III-1, Male, 40

Variant NM_006361.5(HOXB13):c.251G>A (p.Gly84Glu)

ClinVar 128031

CAID n/a

gnomAD MAF=0.007574(European(Finnish)), 2 homozygotes

FamilyAddInfo ages rounded to nearest 5 year interval

FamilyPMIDs 17120048

FamilyLabel JHU Family 1

FamilyJHUPresentingHPOs n/a

FamilyNotHPOs n/a

CountryOrigin n/a

Ethnicity n/a

Race n/a

FamilyJHUPreviousTesting Screened nonsense and missense variants in 202 candidate genes comprising ~15.5Mb. Established evidence of linkage of 17q21-22.

Affected 5

Unaffected 1

Segregations n/a

PublishedLOD n/a

eLOD n/a

AddSegregationInfo n/a

ProbandLabel JHU III-14, Male, 50

CasePresentingHPOs HP:0012125 (Prostate Cancer)

Variant NM_006361.5(HOXB13):c.251G>A (p.Gly84Glu)

ClinVar 128031

CAID n/a

gnomAD MAF=0.007574(European(Finnish)), 2 homozygotes

FamilyAddInfo ages rounded to nearest 5 year interval

FamilyPMIDs 17120048

CaseAddProband2 Male, African-Caribbean

CasePresentingHPOs HP:0012125 (Prostate cancer)

CaseNotHPOs n/a

CasePreviousTesting Screened nonsense and missense variants in 202 candidate genes comprising ~15.5Mb. Established evidence of linkage of 17q21-22.

Variant NM_006361.5:c.646G>T(p.Gly216Cys)

ClinVar n/a

CAID CA8633934

gnomAD MAF= 0.00006152(African), no homozygotes

CaseAddInfo Affected half-brother with same variant genotyped positive. G216C variant not observed in 110 African-American subjects in Exome Sequencing Project.

CasePMIDs 17120048

CaseAddProband1 Male, African-American

CasePresentingHPOs HP:0012125 (Prostate cancer)

CaseNotHPOs n/a

CasePreviousTesting Screened nonsense and missense variants in 202 candidate genes comprising ~15.5Mb. Established evidence of linkage of 17q21-22.

Variant NM_006361.5:c.685C>G(p.Arg229Gly)

ClinVar n/a

CAID CA400106634

gnomAD MAF= 0.0001148(African), no homozygotes

CaseAddInfo Affected brother with same variant genotyped positive. R229G variant not observed in 110 African-American subjects in Exome Sequencing Project.

CasePMIDs 17120048

FamilyLabel UM Family 3

FamilyUM3PresentingHPOs HP:0012125 (Prostate Cancer)

FamilyNotHPOs n/a

CountryOrigin n/a

Ethnicity n/a

Race n/a

FamilyUM3PreviousTesting Screened nonsense and missense variants in 202 candidate genes comprising ~15.5Mb. Established evidence of linkage of 17q21-22.

Affected 5

Unaffected 0

Segregations 4

PublishedLOD n/a

eLOD 1.2

AddSegregationInfo n/a

ProbandLabel UM3 III-1, Male, 45

Variant NM_006361.5(HOXB13):c.251G>A (p.Gly84Glu)

ClinVar 128031

CAID n/a

gnomAD MAF=0.007574(European(Finnish)), 2 homozygotes

FamilyAddInfo ages rounded to nearest 5 year interval

FamilyPMIDs 17120048

FamilyLabel UM Family 1

FamilyUM1PresentingHPOs n/a

FamilyNotHPOs n/a

CountryOrigin n/a

Ethnicity n/a

Race n/a

FamilyUM1PreviousTesting Screened nonsense and missense variants in 202 candidate genes comprising ~15.5Mb. Established evidence of linkage of 17q21-22.

Affected 4

Unaffected 0

Segregations n/a

PublishedLOD n/a

eLOD n/a

AddSegregationInfo One female typed positive(cannot have prostate cancer), one male typed positive(has other cancer)

ProbandLabel UM1 III-9, Male, 50

CasePresentingHPOs HP:0012125 (Prostate Cancer)

Variant NM_006361.5(HOXB13):c.251G>A (p.Gly84Glu)

ClinVar 128031

CAID n/a

gnomAD MAF=0.007574(European(Finnish)), 2 homozygotes

FamilyAddInfo ages rounded to nearest 5 year interval

FamilyPMIDs 17120048

FamilyLabel PcTas72

Family#PresentingHPOs HP:0012125 (Prostate cancer)

FamilyNotHPOs n/a

CountryOrigin Tasmania

Ethnicity n/a

Race n/a

Family#PreviousTesting n/a

ProbandLabel 154, male, 63yo diagnosis

Variant NM_006361.5(HOXB13):c.251G>A (p.Gly84Glu)

ClinVar 128031

gnomAD MAF=0.007574(European(Finnish)), 2 homozygotes

FamilyAddInfo Variant did not segregate with disease on 3rd branch of family. Three genotype negative males on the 3rd branch presented with prostate cancer.

FamilyPMIDs n/a