Table 2

Clinically important mutations in BRCA1 and BRCA2 genes and cancer incidence in relatives from Estonia.

Mutation

Patient ID

Nationality

Age of cancer diagnosis

Breast or ovarian cancer in relatives

Other cancers in relatives

BRCA1 Gene

c.3881_3882delGA

fam. 72

Russian

44: BrCa

M:BrCa S:BrCa AU:BrCa

UN:LaCa

c.4154delA

fam. 37

Russian

40: BrCa

GM:OvCa

no

c.4154delA

fam. 13

Estonian

37: BrCa

M:BrCa

no

c.4154delA

fam. 14/A079

Russian

48: OvCa

M:OvCa

no

c.5382insC

early.40

Estonian

36: BrCa

no

no

c.5382insC

early. 49

Russian

39: BrCa

no

no

c.5382insC

early. 59

Russian

30: BrCa

no

GF1, GF2:GaCa, NI1:UtCa, UN:CoCa, NI2: Mel

c.5382insC

fam. 62

Russian

43: BrCa

M:BrCa

GM:GaCa, UN:LuCa

c.5382insC

early. 66

Russian

35: BrCa

no

no

c.5382insC

fam. 77

Russian

38: BrCa

M:OvCa

no

c.5382insC

pred. 49/A062

unknown

ND

S:BrCa, S:BrCa, AU:BrCa

no

BRCA2 Gene

c.6631delTTAAATG

fam. 16/A106

unknown

65: OvCa

S: BrCa, AU:OvCa

UN:GaCa, B:PrCa,

c.9610C>T

fam. 03/A065

unknown

36: BrCa

M:BrCa, S:BrCa, NI:BrCa

no

Abbreviations:

fam. Familial cases, early. Early-onset case, pred. Predictive case, ND not diagnosed (predictive testing). M mother, S sister, B brother, GM grandmother, GF grandfather, AU aunt, UN uncle, NI niece. BrCa breast cancer, OvCa ovary cancer, LaCa larynx cancer, GaCa gastric cancer, UtCa uterus cancer, CoCa colon cancer, Mel melanoma, LuCa lung cancer, PrCa prostate.

Tamboom et al. Hereditary Cancer in Clinical Practice 2010 8:4   doi:10.1186/1897-4287-8-4