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Table 1 Observed germline alterations in the AATF gene in Finnish breast cancer families

From: Mutation analysis of the AATF gene in breast cancer families

    Carrier frequencya (%)   
Exon/Intron Nucleotide change Effect on protein Familial cases Controls P-value (OR, 95% CI) Previously known (+) or unknown (-) alteration
Ex 4 c.739G>T p.Ala247Ser 1.7 (2/121) 1.3 (4/317) 0.70 (1.3, 0.2-7.1) -
Int 3 c.694+35A>C None 4.1 (5/121) 9.1 (30/328) 0.08 (0.4, 0.2-1.1) +; RS: 8067751
  c.694+48T>G None 3.3 (4/121) 0.9 (3/328) 0.09 (3.7, 0.8-16.8) -
Int 4 c.832+17C>T None 0.8 (1/121) 0.3 (1/317) 0.48 (2.6, 0.16-42.4) -
  c.832+39C>T None 0.8 (1/121) - (0/317) 0.28 (NA) -
Int 11 c.1619+29A>C None 2.5 (3/121) 0.3 (1/325) 0.06 (8.2, 0.8-80.0) -
Int 12 c.1670+42C>T None 20.7 (25/121) 23.5 (72/307) 0.53 (0.9, 0.5-1.4) +; RS:11653434
  1. NA, not available; OR, odds ratio; CI, confidence interval; aHeterozygotes