Table 1 Summary of CDH1 mutation, immunohistochemistry and LOH results

From: E-cadherin alterations in atypical lobular hyperplasia and lobular carcinoma in situ of the breast

Case accrual

Mutation analysis

Immunohistochemistry a

LOH

Case

Lesion

Alteration

Exon

Effect

E-cad

β-cat

α-cat

p120-cat

 

A1

ALH

None

  

cyto

No

A2(L1)

ALH

None

  

cyto

No

A3(L3)

ALH

None

  

cyto

NR

A4(L5)

ALH

None

  

cyto

No

A5

ALH

None

  

cyto

No

A6

ALH

None

  

NR

NR

NR

NR

NR

A7

ALH

None

  

+

+

+

+

No

A8

ALH

None

  

cyto

No

A9

ALH

None

  

cyto

No

A10

ALH

None

  

cyto

Yes

A11(L12)

ALH

None

  

NR

No

A12

ALH

2410delC

15

Frameshift

cyto

No

A13

ALH

None

  

cyto

No

L1-1(A2)

LCIS

856G>A

7

Ala>Thr

cyto

No

L1-2(A2)

LCIS

362A>G

3

His>Arg

cyto

Yes

L2

LCIS

274C>T

3

His>Tyr

cyto

No

L3(A3)

LCIS

2125G>A

13

Ala>Thr

cyto

No

L4

LCIS

1323_1333del

10

Frameshift

cyto

No

L5(A4)

LCIS

1366G>A

10

Val>Met

cyto

No

L6

LCIS

1676G>A

11

Ser>Asn

cyto

No

L7

LCIS

185G>A

3

Gly>Asp

cyto

Yes

L8

LCIS

1309_1310del

9

Frameshift

+

NR

No

L9

LCIS

760G>T

6

Asp>Tyr

NR

cyto

NR

L10

LCIS

989C>T

7

Thr>Ile

cyto

No

L11

LCIS

2075C>T

13

Ala>Val

NR

NR

NR

NR

No

L12(A11)

LCIS

1800A>G

12

Ile>Met

NR

No

A14(L13)b

ALH

None

  

NR

NR

No

L13(A14)

LCIS

1595G>A

11

Trp>amber

NR

NR

No

P1c

DCIS

None

  

+

+

+

NR

NR

  1. ALH=atypical lobular hyperplasia; LCIS=lobular carcinoma in situ; DCIS=ductal carcinoma in situ; (−), negative membrane staining; (+), positive membrane staining; NR=no result due to insufficient material; cyto=diffuse cytoplasmic staining.
  2. aAll cases contained adjacent normal breast acini that served as the internal positive control for the immunohistochemical analyses.
  3. bCase A14/L13 contained atypical lobular hyperplasia and lobular carcinoma in situ lesions as well as a focus of invasive lobular carcinoma in a separate block. The lobular neoplastic lesions were analyzed.
  4. cCase P1 contained a lesion of low-grade ductal carcinoma in situ and was used as a positive control for the E-cadherin, beta-catenin and alpha-catenin immunohistochemistry experiments as it contains no lobular neoplasia.