Skip to main content

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.
Back to article page

Hereditary Cancer in Clinical Practice

ISSN: 1897-4287