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Table 1 Mutation frequency in women with early onset breast cancer unselected for family history

From: Genetic counselling and testing for inherited gene mutations in newly diagnosed patients with breast cancer: a review of the existing literature and a proposed research agenda

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
Malone et al. 2000 [44, 83], US 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
Lalloo et al. 2006 [46, 90], UK 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
  1. aSensitivity ranking of methodology used for mutation detection, with a range of 1 (most sensitive) to 4 (least sensitive): 1, sequencing and multiplex ligation probe analysis (MLPA); 2, sequencing; 3, denaturing high performance liquid chromatography analysis (dHPLC) of all exons, or protein truncation test (PTT) of exon 11 BRCA1 and exon 10/11 BRCA2 plus alternative analysis of other exons; 4A, multiplex heteroduplex analysis (MHA), PTT alone (exon 11 BRCA1 and/or exon 10/11 BRCA2); 4B, population specific founder mutation screen. b'Having a family history' is defined as having at least one first- and/or second-degree relative with breast and/or ovarian cancer. br/ov ca, breast and/or ovarian cancer; FDR, first-degree relative; NA, not available; SDR, second-degree relative.