Table 4.

Relative risk for breast cancer associated with the AR-CAG repeat

Author, year [reference]	Population	AR genotype1	Long allele	Cases	Controls	Adjusted for	RR (95% CI)
Rebbeck, 1999 [63]	Multi-institutional study of BRCA1 mutation carriers ascertained through families with a history of breast and/or ovarian cancer between 1978 and 1997	SS	28+ repeats	19			1.81 (1.06–3.08)2
		SL+LL		146
Spurdle, 1999 [64]	Early onset breast cancer (<40 years) and age matched controls from Australia	SS	21+ repeats	78	71	Age, country of birth, state, education, marital status, number of live births, height, weight1 year ago, age at menarche, oral contraceptive use, family history, estrogen receptor polymorphism, mother's country of birth, father's country of birth	1.4 (0.92–2.15)
		SL		189	138		1.4 (0.87–2.26)
		LL		101	75
Dunning, 1999 [65]	Cases from East Anglian region of the UK and random controls from the EPIC cohort	SS	23+ repeats	209	160
		SL		215	212		0.82 (0.62–1.09)
		LL		84	54		1.31 (0.87–1.97)
Giguere, 2001 [66]	Incident cases from Quebec city and age and area of residency matched controls	SS3	21+ repeats	17	61	Matched analysis	2.14 (1.22–3.73)
		SL+LL		238	400
Kadouri, 2001 [67]	Affected and unaffected BRCA1/2 carriers from two genetics clinics: one in Jerusalem, Israel, and the other in London, UK	SS	28+ repeats				BCRA1/2 carriers:
		SL+LL					0.80 (0.44–1.46)
							Noncarriers:
							1.27 (0.83–1.96)
Haiman, 2002 [68]	Cases and controls from the Nurses' Health Study and controls matched on year of birth, menopausal status, postmenopausal hormone use, and time of day, month, and fasting status at blood draw	SS	22+ repeats	179	247	Age at menarche, parity, age at first birth, BMI at age 18 years, weight gain since age 8, benign breast disease, first degree family history, duration of postmenopausal hormone use; matched analysis	1.06 (0.83–1.35)
		SL+LL		548	713
Suter, 2003 [69]	Cases (<45 years) identified through the Cancer Surveillance System of Western Washington and frequency-matched controls on 5-year age group and reference year	SS	22+ repeats	121	122	Age at reference and reference year	1.3 (0.9–1.8)
		SL		255	206		1.2 (0.8–1.7)
		LL		148	133

¹S, short allele; L, long allele. ²Analyses using 29 and 30 repeats as the cut-point produced progressively higher significant risk estimates and progressively earlier age of onset, no trend test. ³Published odds ratio models the SS genotype as the high-risk allele. BMI, body mass index; CI, confidence interval; RR, relative risk.