Table 5 Summary of loss of heterozygosity and additional somatic truncating mutations detected in genes.

From: Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome

Gene

Number of germline mutant alleles

Number of tumor analyzed

LOH

AST

ND

Ratio of LOH or AST

PALB2

7

5

1

4

0

5/5 (100%)

ATM

6

3

2

0

1

2/3 (67%)

RAD51D

4

3

1

0

2

1/3 (33%)

BARD1

5

2

1

0

1

1/2 (50%)

BRIP1

3

2

1

0

1

1/2 (50%)

RAD51C

3

2

1

0

1

1/2 (50%)

NF1

1

1

1

0

0

1/1 (100%)

BLM

4

1

0

0

1

0/1 (0%)

FANCM

2

1

0

0

1

0/1 (0%)

RAD50

1

1

0

0

1

0/1 (0%)

CHEK2

1

1

0

0

1

0/1 (0%)

RECQL

1

0

0

0

0

0/0 (NA)

Total

38

22

8

4

10

12/22 (54.5%)

  1. LOH loss of heterozygosity by copy number (CN) loss, AST additional somatic truncation, ND not detected, NA not available.