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Table 2 Summary of identified variants and tumor characteristics of the PALB2 carriers

From: Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast and/or ovarian cancer families from Eastern Ontario, Canada

    Tumor characteristics   In silico analysis
  Mutation Exon Age Type Stage ER PR Her2 Previously reported? SIFT Polyphen
Truncating c.3113G > A, 10 36 IDC 1 Pos Pos Neg yes   
p.Gly1000_Trp1038del
p.Thr1029Ilefs*2
p.W1038*
  c.3507_3508delTC 12 44 IDC 1 Pos Pos Pos no   
p.H1170Ffs*19
Missense c.1846G > C 4 25 IDC 1 U U U no 0.02 1.00
p.D616H
  c.3418 T > G 12 32 IDC 1 Pos Pos Pos no 0.00 1.00
p.W1140G
  c.3287A > G 10 50/58 DCIS/IDC 0/2 NP/Pos NP/Pos NP/U no 0.00 1.00
  p.N1096S           
  1. ER = estrogen receptor; PR = progesterone receptor; HER2 = human epidermal growth factor receptor 2; IDC = infiltrating ductal carcinoma; DCIS = ductal carcinoma in situ; U = unknown; Pos = positive; Neg = negative; NP = not performed.