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. 2016 Feb 17;24(9):1316–1323. doi: 10.1038/ejhg.2016.11

Table 2. Characteristics of young-onset breast cancer families included in the genotyping analysis, as defined by the affected sistera: Two Sister Study (n=1242 cases; 2008–2010) and Sister Study (n=235 cases; 2003–2009).

  N (%)
Age at diagnosis
 <40 161 (11)
 40–49 1315 (89)
 Missing 1
   
Race/ethnicity
 Non-Hispanic white 1296 (88)
 Hispanic 54 (4)
 African-American 85 (6)
 Other 40 (3)
 Missing 2
   
Menopausal status at diagnosis
 Premenopausal (with or without hysterectomy) 1359 (93)
 Postmenopausal 100 (7)
 Missing 18
   
Invasive status
 Ductal carcinoma in situ 239 (17)
 Invasive 1208 (83)
 Missing 30
   
Estrogen receptor status
 Positive 1146 (80)
 Negative 282 (20)
 Missing 49
   
BRCA1/2 statusb
 Case carries BRCA1/2 mutation 116 (8)
 Case not known to have BRCA1/2 mutation 1361 (92)
a

This includes 29 families where the affected sister was not included in the genotype analysis, but other members of the family were.

b

Families were categorized as BRCA1 or BRCA2 mutation positive if (1) the case sister reported that she had had a positive test or (2) the case sister was not tested but the unaffected sister reported that she had had a positive test.