Skip to main content

Table 2 Pathogenic mutations identified in the breast cancer patients

From: Population and breast cancer patients’ analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population

Sample ID

RS

GENE

POS

REF

ALT

Clinical_significance_ENIGMA

HGVS_cDNA

REFERENCE

FUCAM29

rs80357520

BRCA1

41243787

TTA

T

Pathogenic

c.3759_3760delTA

Villareal-Garza 2015 [8]

FUCAM50

rs41293455

BRCA1

41234451

G

A

Pathogenic

c.4327C>T

McKean-Cowdin 2005 [24]

FUCAM53

rs80357382

BRCA1

41258474

T

C

Pathogenic

c.211A>G

Rebbek 2016 [25]

FUCAM56

rs80357780

BRCA1

41245250

ACT

A

Pathogenic

c.2296_2297delAG

Weitzel 2005 [26]

FUCAM65

rs80357902

BRCA1

41243899

A

AT

Pathogenic

c.3648dupA

Lecarpentier 2012 [27]

FUCAM75

rs80357842 rs80357889

BRCA1

41243686

CCTCA

C

Pathogenic

c.3858_3861delTGAG

Kwong 2016 [28]

FUCAM77

rs80357914

BRCA1

41276044

A

ACT

Pathogenic

c.68_69delAG

Bolton 2012 [29]

FUCAM1

rs777107618 rs80359380

BRCA2

32911755

C

CT

Pathogenic

c.3264dupT

Susswein 2016 [29]

FUCAM36

rs41293513

BRCA2

32937507

A

G

Pathogenic

c.8168A>G

Guidugli 2013 [30]

FUCAM40

rs80359660

BRCA2

32930683

G

GC

Pathogenic

c.7556dupC

Borg 2010 [31]

FUCAM48

rs80359082

BRCA2

32944584

G

A

Pathogenic

c.8377G>A

Guidugli 2013 [30]

FUCAM310

rs80359082

BRCA2

32944584

G

A

Pathogenic

c.8377G>A

Guidugli 2013 [30]

MLPA

 FUCAM33

 

BRCA1

    

Ex9-12del

 

 FUCAM11

 

BRCA1

    

Ex9-11del

 

 FUCAM30

 

BRCA1

    

Ex12del

 

 FUCAM84

 

BRCA2

    

Ex1del

 

 FUCAM85

 

BRCA2

    

Ex23del

 

 FUCAM98

 

BRCA2

    

Ex1del

 

 FUCAM100

 

BRCA2

    

Ex17del

 

 FUCAM102

 

BRCA2

    

Ex23del

 

 FUCAM9

 

BRCA2

    

Ex22-24del

 

 FUCAM10

 

BRCA2

    

Ex22-24del

 

 FUCAM25

 

BRCA2

    

Ex11del

 

 FUCAM41

 

BRCA2

    

Ex26del

 

 FUCAM47

 

BRCA2

    

Ex1del