Table 2 Recurrent mutations tested in BRCA1, BRCA2, RAD51C, PALB2, and CHEK2 genes

BRCA1

5382insC (c.5266dupC)

p.Gln1756fs

Frameshift

300T>G (c.181T>G)

p.Cys61Gly

Missense

4153delA (c.4035delA)

p.Glu1346fs

Frameshift

1806C>T (c.1687C>T)

p.Gln563Ter

Nonsense

185delAG (c.68_69delAG)

p.Glu23fs

Frameshift

3819del5 (c.3700_3704del5)

p.Val1234fs

Frameshift

3875del4 (c.3756_3759delGTCT)

p.Ser1253fs

Frameshift

5370C>T (c.5251C>T)

p.Arg1751Ter

Nonsense

794delT (c.794_795delCT)

p.Ser265Cysfs

Frameshift

BRCA2

4075delGT (c.3847_3848delGT)

p.Val1283fs

Frameshift

8138del5 (c.7913_7917delTTCCT)

p.Ala2637_Phe2638insTer

Nonsense

886delGT (c.658_659del)

p.Val220fs

Frameshift

6174delT (c.5946delT)

p.Ser1982fs

Frameshift

RAD51C

c.905-2_905-1delAG

p.Glu303TrpfsX41

Skipping of exon 7

c.577C>T

p.Arg193Ter

Nonsense

c.502A>T

p.Arg168Ter

Nonsense

PALB2

c.172_175delTTGT

p.Gln60fs

Frameshift

c.509_510delG>A

p.Arg170fs

Frameshift

CHEK2

PTT

Missense

c.1100delC*

p.Thr367fs

Frameshift

c.444+1G>A*

p.E149IfsX6

Skipping of exon 2

c.470T>C

p.Ile157Thr

Missense