Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2mutation carriers

Breast Cancer Research

Table 1 Distribution of BRCA1 and BRCA2 mutation carriers by study site

Study	Country^a	BRCA1	BRCA2	Genotyping platform
HEBON	The Netherlands	807	308	iPLEX^b; Golden Gate^c
EMBRACE	UK	841	656	iPLEX^b; Golden Gate^c
FCCC	USA	82	53	iPLEX^b; Golden Gate^c
GC-HBOC	Germany	398	163	Golden Gate^c
GEMO	France/USA	408	226	Golden Gate^c
Georgetown	USA	27	14	iPLEX^b; Golden Gate^c
HEBCS	Finland	103	104	iPLEX^b; Golden Gate^c
ILUH	Iceland	6	87	iPLEX^b; Golden Gate^c
kConFab	Australia/New Zealand	531	427	iPLEX^b; Golden Gate^c
Mayo	USA	227	123	iPLEX^b; Golden Gate^c
ModSQuaD	USA	158	91	Golden Gate^c
MUV	Austria	298	126	iPLEX^b; Golden Gate^c
PBCS	Italy	76	43	iPLEX^b
SWE-BRCA	Sweden	489	141	iPLEX^b; Golden Gate^c
UPENN	USA	273	131	iPLEX^b; Golden Gate^c

EMBRACE, Epidemiological Study of BRCA1 and BRCA2 Mutation Carriers; FCCC, Fox Chase Cancer Center; HEBON, Hereditary Breast and Ovarian Cancer Research Group Netherlands; ILUH, Iceland Landspitali - University Hospital Study; kConFab, Kathleen Cunningham Consortium for Research into Familial Breast Cancer; ModSQuaD, Modifier Study of Quantitative Effects on Disease; MUV, Medical University of Vienna; PBCS, Pisa Breast Cancer Study. ^aCoordinating centre. ^bSamples were genotyped at the Queensland Institute of Medical Research. ^cSamples were genotyped at the Mayo Clinic.

ISSN: 1465-542X