Table 1 Mutation frequency in women with early onset breast cancer unselected for family history
Publication | Sample | Age cut-off (years) | Sensitivity ranking of methodologya | BRCA1/2 mutation frequency combined | BRCA1/2 mutation frequency in women with family history | Percentage of women with BRCA1/2 mutations without a family historyb |
|---|---|---|---|---|---|---|
Uhrhammer et al. 2008 [78], France | 51 (North African) women (hospital-based) | <38 | 1 | 9.8% (BRCA1 only) | NA | NA |
Loizidou et al., 2007 [52], Cyprus | 26 women (unclear whether population or hospital-based) | <40 | 1 | 23.0% | 27% of women with a family history and 27% without a family history of BRCA (not closer specified) were BRCA1/2 carriers | 43 |
Choi et al., 2004 [48], Korea | 60 women (hospital-based) | ≤ 40 | 2 | 15.0% | 25% of women with a FDR and a SDR with br/ov ca were BRCA1/2 carriers, compared to 13% without such a family history | 78 |
Haffty et al., 2006 [79], US | 170 Caucasian (including 31 of Jewish ancestry), and 30 African-American women (hospital-based) | ≤ 45 | 2 | 17.0%; 11% in non-Jewish Caucasian women | 40% of women with a moderate to strong family history (details not specified) were BRCA1/2 carriers compared to 10% without such a family history | 47 |
Loman, et al. 2001 [43], Sweden | 234 women (population-based) | <41 | 3 | 8.9%; higher in cases diagnosed <36 years (15.9%) | 26% of women with at least one FDR or two FDRs or SDRs with br/ov ca were BRCA1/2 carriers, compared to 4% without such a family history | 29 |
Hamann et al. 2003 [80], Germany | 91 women (hospital-based) | <41 | 3 | 5.5% | 13% of women with at least 1 FDR or SDR with br/ov ca were BRCA1/2 carriers compared to 4% without such a family history | 40 |
Bonadona et al. 2005 [81], France | 232 women (population-based) | <46 | 3 | 9.1%; higher in cases diagnosed <41 years (12.8%) | 21% of women with at least 1 FDR or SDR with br/ov ca or with small family size, a predominantly male pedigree, or other specific cancers were BRCA1/2 carriers, compared to 5% without the above features | 33 |
de Sanjose et al. 2003 [82], Spain | 136 women (population-based) | <46 | 3 | 6.8%; higher in cases diagnosed <40 years (11.6%) | 10% of women with at least 1 FDR or SDR with br ca were BRCA1/2 carriers, compared to 4% without such a family history | 25 |
203 women (population-based) | <35 | 3 | 9.4% | 19% of women with at least one FDR with br ca were BRCA1/2 carriers, compared to 1% without such a family history | 16 | |
Martinez-Ferrandis et al. 2003 [53], Spain | 124 women (hospital-based) | <41 | 3 | 5.6% | 15% of women with at least one FDR with br/ov ca or male br ca were BRCA1/2 carriers, compared to 3% without such a family history. Frequency of carriers was higher in cases with ov ca relatives (38%) than in those without (4%) | 14 |
Plaschke et al. 2000 [84], Germany | 40 women (population-based) | <40 | 3 | 12.5% (BRCA2 only) | 1 carrier (1/5, 20%) had one FDR and one SDR affected by br ca. No other family history data were provided | NA |
Ho et al. 2000 [85], Singapore | 43 women (hospital-based) | <36 | 3 | 7.0% (BRCA1 only) | 29% of women with a family history of br/ov ca in a FDR or SDR were BRCA1 carriers, compared to 2% without such a family history | 33 |
Yassaee et al. 2002 [86], Iran | 83 women (hospital-based) | <45 | 3/4 | 6.0% | 29% of women with at least one relative affected by br/ov cancer were BRCA1/2 carriers, compared to 1% without such a family history | 20 |
Anglian Breast Cancer Study Group 2000 [87], UK | 1,220 women (population-based) | <55 | 4A | 2.0%; higher in cases diagnosed <35 years (12.4%) | 4% of women with at least one FDR or two FDRs and/or SDRs with br/ov ca were BRCA1/2 carriers, compared to 1% with no more than one SDR with br/ov ca | 29 |
Hopper et al. 1999 [51], and Southey et al. 1999 [88], Australia | 388 women (population-based) | <40 | 4A | 4.6% | 5% of women with a FDR or SDR with br ca were BRCA1/2 carriers, compared to 5% without such a family history | 61 |
Krainer et al. 1997 [89], US | 73 women (non-Jewish) | ≤ 32 | 4A | 14.7% | No family history data reported | NA |
|  | 39 women (Jewish; hospital-based) | ≤ 40 |  | 14.6% |  |  |
Peto et al. 1999 [90], UK | 254 women | <36 | 4A | 5.9% | 45% of women with two or more FDR or SDR relatives affected by br/ov ca were BRCA1/2 carriers, compared to 11% women with at least one FDR affected by br/ov ca | 50 |
|  | 363 women (population-based) | ≥ 36 to ≤ 45 | 4.1% |  |  |  |
Lubinski et al. 2006 [91], Poland | 3,472 women (hospital-based) | <51 | 4B | 5.7% (BRCA1 only) | 13% of women with one or more first- or second-degree relatives with br ca or ov ca were BRCA1 carriers | 43 |
Robson et al. 1998 [92], US | 91 Ashkenazi women (hospital-based) | ≤ 42 | 4B | 33.0% | relatives with br ca or ov ca were BRCA1/2 carriers, compared to 7% of women without such a family history | 10 |
Gershoni-Baruch et al. 2000 [93], Israel | 91 Ashkenazi women (hospital-based) | ≤ 42 | 4B | 31.3% | 57% of women with one or more first- or second-degree relatives with br ca or ov ca were BRCA1/2 carriers, compared to 10% of women without such a family history | 17 |
Tonin et al. 2001 [94], Canada | 61 French-Canadian women (hospital-based) | ≤ 40 | 4B | 13.1% | 19% of women with at least one first-, second- or third-degree relative with br ca or ov ca were BRCA1/2 carriers, compared to 4% of women without such a family history | 13 |
100 women of 278 (population-based); 42% deceased not tested | ≤ 30 | NA | 18.0% | Mutations in BRCA1/2 or TP53 were identified in 49% of familial cases (that is, family history of br ca <65 years or ov ca any age or family history consistent with Li Fraumeni syndrome) and 6% of the non-familial cases | 6 |