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Table 2 Novel variants in BRCA1 (NM_007294.3) and BRCA2 (NM_000059.3) genes detected in 398 probands with diagnosis of epithelial ovarian cancer

From: BRCA1 and BRCA2 mutations and clinical interpretation in 398 ovarian cancer patients: comparison with breast cancer variants in a similar population

Sample ID

Gene

Exon/intron

Mutationa

Predicted effectb

MT

CSc

LOVD (genomic variant #)

BR1229

1B

11

c.2005dupA

p.(Met669Asnfs*4)

F

LP

198881

BR2066

1B

11

c.3758_3759delCT

p.(Ser1253*)

F

LP

196851

BR1037

1B

11

c.876_879delCACT

p.(Thr293Lysfs*4)

F

LP

198751

BR1410

2B

11

c.2133C>A

p.(Cys711*)

N

LP

202233

BR0986

2B

11

c.2860G>T

p.(Glu954*)

N

LP

197664

BR0832

2B

11

c.4419delC

p.(Asn1473Lysfs*6)

F

LP

201398

BR2072

2B

11

c.5253C>A

p.(Tyr1751*)

N

LP

203562

BR1464

2B

14

c.7308delC

p.(Asn2436Lysfs*31)

F

LP

206927

BR0495

2B

16i

c.7805+2_7805+3delTA

 

S

LP

199222

BR1104

1B

11

c.2357T>C

p.(Leu786Pro)

M

VUS

200898

BR0889

1B

11

c.3168C>T

p.(Ser1056=)

Syn

VUS

200773

BR1061

1B

10i

c.670+31A>C

 

S

VUS

196392

BR2063

1B

13i

c.4357+22C>T

 

S

VUS

209404

BR1078

1B

2i

c.80+52T>A

 

S

VUS

196406

BR0913

2B

6i

c.516+3A>T

 

S

VUS

199956

  1. MT mutation type, F frameshift, N nonsense, S splicing, M missense, Syn synonym, LP likely pathogenic, VUS variant of uncertain significance
  2. aHGVS nomenclature at cDNA level
  3. bHGVS nomenclature at protein level
  4. cCS: interpretation and classification of the variants was carried out according to the recommendations of the ACMG guidelines
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Human Genomics

ISSN: 1479-7364