Table 1 The point mutations detected in this study in breast and/or ovarian cancer susceptible patients.

From: Analysis of large mutations in BARD1 in patients with breast and/or ovarian cancer: the Polish population as an example

sample ID

sample type

type of family

nucleotide change

canonical AA translation of nt change

predicted effect of the mutation

#53

unselected ovarian

Br/Ov

c.1690C >T

p.Gln564*

deleterious nonsense mutation 23, 27

#4031

familial

Br

c.1690C >T

p.Gln564*

#4163

familial

Br/Ov

c.1972C >T

p.Arg658Cys

missense mutation, described either as deleterious, potentially deleterious or neutral7,10,12,19,38

PANTHER: change in conserved AA, score -3.030/-10; PolyPhen2: probably damaging, score 0.995/1

#4349

familial

Br

c.1972C >T

p.Arg658Cys

#4062

familial

Br/Ov

c.1977A >G

p.Arg659Arg

deleterious splice mutation (exons 2-9 deletion; p.Cys53_Trp635delinsfs*12)23

#4217

familial

Br/Ov

c.1977A >G

p.Arg659Arg

#4321

familial

Br

c.1977A >G

p.Arg659Arg

  1. Br – site specific breast cancer family, Br/Ov – breast and ovarian cancer family; The variation sites are defined based on NM_000465 BARD1 sequence.
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