Table 1 Key analyses of association of rare ATM variants with breast cancer

From: Tests of association for rare variants: case control mutation screening

Study Year Key elements
FitzGerald et al.5 1997 CCMS study, CAST test of T+SJVs
Gatti et al.9 1999 Theoretical study predicting relative importance of ATM missense substitutions
Sommer et al.10 2003 CCMS study incorporating prediction of missense substitution severity
Renwick et al.11 2006 Well-powered CCMS study, combined CAST of T+SJVs and pathogenic rMSs
Tavtigian et al.6 2009 CCMS meta-analysis, combined CAST of T+SJVs and graded rMS trend test
Bernstein et al.12 2010 Case–case analysis, supports importance of 'predicted damaging' rMSs
ATM, ataxia telangiectasia mutated; CAST, cohort allelic sums test; CCMS, case–control mutation screening; rMSs, rare missense substitutions; T+SJVs, protein truncating plus splice junction variants.