Table 3 Pathogenic or likely pathogenic variants detected in the cancer susceptibility genes in a high-risk population

BRCA1

NM_007300.4

c.3817 C > T

p.Gln1273Ter

rs80357208

2

45

53/62

1 relative with BC;

Bilateral BC and 3 relatives with BC

c.1439dup

p.Asn480LysfsTer10

rs80357505

1

37/37

Bilateral BC

BRCA2

NM_000059.4

c.6275_6276del

p.Leu2092Profs*7

rs11571658

1

25

1 relative with BC

PALB2

NM_024675.4

c.2288_2291del

p.Leu763Ter

rs876659571

1

34

Man with BC and 1 relative with BC

TP53

NM_000314.8

c.1024del

p.Arg342GlufsTer3

rs1131691022

1

36

1 relative with BC