PGS Sample Set (PSS): PSS003582

Phenotype All individuals were BRCA2 carriers. BRCA2 pathogenic variants were categorized according to their known or predicted effect on protein function: “class I” included loss-of-function variants expected to yield unstable or no protein; “class II” included variants likely to produce stable mutant proteins. Pathology data were obtained from pathology reviews, medical, pathology or tumor registry records, or immunohistochemical staining of tissue microarrays. All cases were individuals with breast cancer.
Sample Ancestry European

Sample Numbers

Total number
1,177 individuals
Detailed numbers
244 cases (20.73%)
933 controls
100.0% Male samples
Number of Cohort(s) 35
Sample distribution
Sample gender distribution


Cohort Short Name Cohort Full Name Previous/other/additional names (e.g. sub-cohorts)
BCFR Breast Cancer Family Registry
BCFR-CA Breast Cancer Family Registry Canada
BCFR-UT Utah site of the Breast Cancer Family Registry
BRICOH Beckman Research Institute of the City of Hope
CNIO Spanish National Cancer Centre
CONSIT_TEAM CONsorzio Studi ITaliani sui Tumori Ereditari Alla Mammella CONSIT TEAM
DEMOKRITOS Hellenic Cooperative Oncology Group
DKFZ Deutsches Krebsforschungszentrum (German Cancer Research Center)
EMBRACE Epidemiological study of BRCA1 and BRCA2 mutation carriers
FCCC Fox Chase Cancer Center
GC-HBOC German Consortium for Hereditary Breast & Ovarian Cancer
GEMO Genetic Modifiers of cancer risk in BRCA1/2 mutation carriers
HCSC Hospital Clinico San Carlos
HEBCS Helsinki Breast Cancer Study
HEBON Hereditary Breast and Ovarian Study Netherlands
HUNBOCS Molecular Genetic Studies of Breast and Ovarian Cancer in Hungary
HVH Heart and Vascular Health Study
ICO Institut Català d'Oncologia
ILUH Infanta Leonor University Hospital (Madrid, Spain)
IOVHBOCS Instituto Oncologico Veneto Hereditary Breast and Ovarian Cancer Study
IPOBCS Portuguese Oncology Institute-Porto Breast Cancer Study
kConFab Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer
MAYO The Mayo Clinic study MAYO clinic biobank
MSKCC Memorial Sloan Kettering Cancer Center
MUV Medical University of Vienna
NCI National Cancer Institute
OCGN Ontario Cancer Genetics Network
OSUCCG Ohio State University Comprehensive Cancer Centre
OUH Odense University Hospital
PBCS Polish Breast Cancer Study
SWE-BRCA Swedish Breast Cancer Study SWEBCS
UPENN University of Pennsylvania
UPITT Cancer Family Registry, University of Pittsburg
VFCTG Victorian Familial Cancer Trials Group

Additional information

Additional controls were obtained from UCHICAGO