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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
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Breast Cancer Research

ISSN: 1465-542X

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