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. 2012 Jul 11;7(7):e40494. doi: 10.1371/journal.pone.0040494

Table 1. Summary of the literature about ESR1_TA, ESR2_CA, and AR_CAG microsatellites and breast cancer risk.

Author, year Study type Major population Affected/Unaffected Sample notes DNA Major dichotomous repeat cutoff Main findings
ESR1_TA
Wedrén, 2004 [14] Case-control Swedish 1514/1514 Female, postmenopausal Somatic, germline 14 Deviance from HWE
Iobagiu, 2006 [15] Case-control French 139/145 Female Germline 19 No association
Anghel, 2006 [24] Case-control Romanian 153/318 Female Somatic, germline 16, 23, 38 (sum) Shorter repeats higher risk
Tsezou, 2008 [16] Case-control Greek 79/155 Female Germline 15 No association
ESR2_CA
Försti, 2003 [23] Case-control Finnish 219/248 Female cases and male controls Germline NA No association
Iobagiu, 2006 [15] Case-control French 139/145 Female Germline 22 No association
Anghel, 2006 [24] Case-control Romanian 153/318 Female Somatic, germline 22, 23, 45 (sum) Shorter repeats higher risk
Tsezou, 2008 [16] Case-control Greek 79/155 Female Germline 20 Longer repeats less risk
AR_CAG
Rebbec, 1999 [28] Case-control American 165/139 Female, BRCA1 mutation carriers Germline 28 Longer repeats higher risk and earlier diagnosis
Spurdle, 1999 [29] Case-control Australian 368/284 Female, <40 years Germline 22 No association overall, or stratified by family history, ER and PR status
Dunning, 1999 [30] Case-control British 508/426 Female Germline 21, 28 No association
Young, 2000 [31] Case-control Scotch 59/79 Male Somatic, germline NA No association
Given, 2000 [32] Case only Irish 178/− Female, ≤65 years Germline 28 No association
Yu, 2000 [33] Case only Italian 133/− Female Somatic 21, 44 (sum) Longer repeats associated with lower grade of tumors, fewer lymph node metastases and longer survival
Menin, 2001 [34] Case only Italian 101+50/− Some BRCA1/2 mutation carriers, 50 ovarian cancers Germline 19, 23 No association
Kadouri, 2001 [35] Case-control Ashkenazi Jewish 152+166/36+152 Female, 188 BRCA1/2 mutation carriers including ovarian cancers Germline 28 No association
Giguèr, 2001 [36] Case-control French-Canadian 255/461 Female Germline 20, 39 (sum) Shoter repeats less risk, association stronger in postmenopausal women
Elhaji, 2001 [37] Case-control Canadian 114/248 Female, >40 years Somatic, germline 26 Longer repeats higher risk in well and moderately differential tumors
Kristiansen, 2002 [38] Case-control Norwegian 216/575 Female, heterozygous cases for the CAG repeat Germline 30 No association
Haiman, 2002 [39] Case-control European-American 727/969 Female, predominantly postmenopausal Germline 22 No association overall, longer repeats associated with family history
Dagan, 2002 [40] Case-control Israeli Jewish 108+41/78 Female, BRCA1/2 mutation carriers, 41 ovarian cancers Germline 18, 19 Shorter repeats earlier onset
Suter, 2003 [41] Case-control European-American 524/461 Female, <45 years Germline 22, 43 (sum) Longer repeats higher risk, homozygous of CAG short allele associated with ever use of oral contraceptives
Syrjäkoski, 2003 [42] Case only Finnish 32/− Male Germline NA No association
Liede, 2003 [43] Case-control Filipino 299/229 Female Germline 25 Longer repeats higher risk
MacLean, 2004 [44] Case only Australian 41/− Male Somatic 24 Longer repeats are more frequent in patients with grade I and II tumors, but not associated with age at diagnosis
Spurdle, 2004 [45] Case-control Australian & British 331+32/241 Female, BRCA1/2 mutation carriers, 32 ovarian caners Germline 28, 29 No association
Wang, 2005 [9] Case-control African-American 239/ Female Germline 22 No association overall, longer repeats associated with family history
Iobagiu, 2006 [15] Case-control French 249139/145 Female Germline 15 Shorter repeats higher risk
Anghel, 2006 [24] Case-control Romanian 153/318 Female Somatic, germline 13, 16, 28 (sum) Longer repeats higher risk
Cox, 2006 [27] Case-control European-American & European 95+376+669/540+674 Female Germline 22, 23, 25, 27 No association
Slattery, 2007 [46] Case-control European-American & Hispanic-American 1,169+576/1,330+725 Female Germline 22 No association
González, 2007 [47] Case-control Spanish 257/393 Female Germline 22 Longer repeats higher risk
Wedrén, 2007 [48] Case-control Swedish 1,542/1,511 Female, postmenopausal Somatic, germline 22, 20 No association overall
Tsezou, 2008 [16] Case-control Greek 79/155 Female Germline 22 Longer repeats less risk
Wu, 2008 [49] Case-control Taiwanese 88/334 Female Germline 22 Longer repeats associated with short duration of early estrogen exposure
Abbas, 2010 [50] Case-control Germany 3,149/5,489 Female Germline 22 Shorter repeats associated with combined estrogen-progestagen therapy
Chintamani, 2010 [51] Case-control Indian 70/80 Female Germline NA No association
Sakoda, 2010 [52] Case-control Chinese 614+467/879 Female, 467 subjects with fibrocystic conditions Germline 22–24 Longer repeats associated with an increased risk of fibrocystic breast conditions
Hietala, 2010 [53] htSNP/diplotype Swedish 56/269 Female, 56 BRCA1/2 mutation carriers and 269 young healthy subjects from breast cancer high-risk families Germline 22 Neither individual htSNPs nor other diplotypes were significantly associated with androgen levels and did not tag for AR microsatellites
Rajender, 2010 [54] Case-control Indian 747/661 Female Germline NA No association overall, no significant difference between pre- and post-menopausal cases
Mehdipour, 2010 [55] Case-control Iranian 500/432 Female Germline 22 Longer repeats higher risk, but reduce the risk in subjects with positive family history
Gilbert, 2011 [56], [57] Case-control Egyptian 44/43 Male Somatic, germline 14, 22 No association