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Table 3 Risk characteristics of BRCA1 large genomic rearrangements reported in Korea

From: Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea

Exon rearrangement

primary cancer

Age (at Dx)

FHx

High risk features

BRCAPRO

KOHCal

Detection method

Reference

Duplication of exon 4–6

OC

35

1 BC, 1 OC, 2 COBO

Strong FHx

0.7296

NA

MLPA

This study

Deletions of exon 10–12

BC

35

2 BC

Early-onset BC Strong FHx

0.2635

69.3

MLPA, long PCR

10

Deletions of exon 12–14

BC

35

1 BC, 1 OC

Early-onset BC Strong FHx

0.4352

33.4

MLPA

10

Deletions of exon 12–14

BC

49

2 BC, 1 COBO

Early-onset BC Strong FHx

0.0015

19.0

MLPA, long PCR

9

Deletion of exon 19

BC

31

2 BC, 7 COBO

Early-onset BC Bilateral BC Strong FHx

0.0961

76.9

MLPA

This study

Deletions of exon 1–23

BC

36

4 BC

Strong FHx

0.8132

30.4

MLPA

10

Deletions of exon 1–23

BC

NA

NA

NA

NA

NA

MLPA

1

  1. BC breast cancer, OC ovarian cancer, COBO cancers other than breast or ovary, Dx diagnosis, FHx family, MLPA multiplex ligation-dependent probe amplification, NA not available