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Table 3 Family cancer histories of probands, carriers of PALB2 mutations, and the histopathology features of PALB2-associated tumours.

From: Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families

Mutation Pedigree Breast cancer diagnoses Grade Histological type (1°) ER PR HER2
a) PALB2 c.3113G>A A Proband +      
   P.FCOR +      
   P.cousin -      
   P.aunt      
  B Proband + 3 IDC pos neg Eqv
   P.aunt      
   P.cousin -      
   P.cousin      
   P.g.mother      
  C Proband + 1 Tubular pos pos neg
   Sister + 3 IDC pos neg  
   P.aunt      
   M.aunt      
   M.cousin      
  D Proband + 2 IDC*    
   Sister + 1 IDC    
   P.cousin +      
   P.cousin      
   P.aunt      
   P.aunt      
  E Proband + 3 IDC neg neg Eqv
   Sister      
   M.cousin +      
   M.cousin      
   M.cousin + 2 Pl. lobular pos pos  
   M.aunt      
  F Proband + 3 IDC pos pos pos
  G Proband + 2 Lobular    
   Sister      
  H Proband + 2 IDC pos neg Eqv
   Sister + 2 IDC pos pos  
   Mother -      
   M.g.mother      
b) PALB2 c.196C>T I Proband + 3 IDC pos pos  
   Mother -      
   P.cousin      
   P.cousin      
   P.g.-g.mother      
   P.g.aunt      
   P.g.aunt      
   P.g.aunt      
c) PALB2 c.1947_1948insA J Proband + 2 Pl. lobular pos pos pos
   Sister      
   M.cousin      
   M.cousin      
   M.FCOR      
   M.g.Aunt      
   P.cousin      
   Sister in law      
d) PALB2 c.2982_2983insT K Proband + 3 IDC    
   Sister + 2-3 IDC pos neg pos
   M.aunt      
  1. Histopathology and carrier status information were presented where available. *Secondary histological type is lobular carcinoma. Dx, diagnosis; 1°, primary; ER, estrogen receptor; PR, progesterone receptor; HER2, human epidermal growth factor-2; P, paternal; M, maternal; G, grand; G-G, great-grand; FCOR, first cousin once removed; IDC, invasive ductal carcinoma; Pos, positive; Neg, negative; +, genotyped and identified to be a carrier of the respective PALB2 mutation; -, genotyped and found to not be a carrier of a PALB2 mutation; Pl, pleomorphic; Uk, unknown; Eqv, equivocal, tested to be 2+ by immunohistochemistry but not confirmed by fluorescence in situ hybridisation