Skip to main content

Table 3 BRCA1 gene mutation and VUS identified in our cohort

From: BRCA mutation screening and patterns among high-risk Lebanese subjects

Nucleotide Change

AA Change

Nomenclature Protein

Number of families with history of mutation

Deleterious

 c.131G > T

p.Cys44Phe

C44F

7

 c.3436_3439delTGTT

p.Cys1146Leufs

3555del4

5

 c.2158G > T

p.Glu720Ter

E720X

3

 c.3679C > T

p.Gln1227Ter

Q1227X

1

 c.679G > T

p.Glu227Ter

E227X

2

 c.3381 T > G

p.Tyr1127Ter

Y1127X

3

 c.4096 + 1G > A

 

IVS11 + 1G > A

1

 c.1039_1040delCT

p.Leu347Valfs

1158_1159delCT

1

VUS

 c.536A > G

p.Tyr179Cys

Y179C

 

 c.1456 T > C

p.Phe486Leu

F486 L

4

 c.1648A > C

p.Asn550His

N550H

 

 c.804C > G

p.Asn268Lys

N268K

2

 c.3526G > A

p.Val1176Ile

V1176I

1

 c.107C > A

p.Ser36Tyr

S36Y

1

 c.4132G > A

p.Val1378Ile

V1378I

2

 c.3956G > T

p.Gly1319Val

G1319 V

1

 c.2617 T > C

p.Ser873Pro

S873P

1

 c.488G > C

p.Arg163Thr

R163T

1

 c.346G > A

p.Glu116Lys

E116K

1

 c.1717_1717delT

p.Ser573HisFsX

1863delT

1

Back to article page

Hereditary Cancer in Clinical Practice

ISSN: 1897-4287