Figure 1.
Geographical distribution of BRCA1 c.190T>C (p.Cys64Arg) mutation carriers.
Symbol (“•”) indicates the birth places of index case from families segregating the mutation.
Table 1.
Number and frequencies of BRCA1 c.190T>C positive families among those recruited at three Italian institutions and tested for BRCA mutations.
Figure 2.
Haplotype branching trees in families segregating the BRCA1 c.190T>C (p.Cys64Arg).
The six short tandem repeat markers analyzed are shown together with their position in the Marshfield genetic map. Family haplotypes are indicated with the corresponding family ID codes. The most common haplotype is indicated in bold numbers.
Figure 3.
Semi-quantitative fragment analysis of the Δexon5q isoform.
The upper panel shows the capillary electrophoresis patterns of the cDNA fragments spanning BRCA1 exons 5 and 6 observed in LCLs from a BRCA1 wild type individual, and from carriers of the c.190T>C and c.212G>A, which causes the up-regulation of the Δexon5q transcript, mutations. The Δexon5q and full-length (FL) isoforms are indicated. The lower panel shows the ratio between the peak areas of the Δexon5q and full-length isoforms. The LCLs were cultured in the presence (dark grey bars) and in the absence (light grey bar) of cycloheximide. Control bars represent the average value observed in six wild-type LCLs. c.190T>C bars represent the average value observed in four mutant LCLs. The error bars represent standard deviation.
Figure 4.
Detection of BRCA1/BARD1 interaction by GFP-fragment reassembly screening.
(a) Fluorescence was observed after 24 h of growth at 30°C followed by 2 days of incubation at RT. No fluorescence is observed under non-inducing condition (right column). [L-ara, L-arabinose; IPTG, Isopropyl β-D-1-tiogalattopiranoside, IPTG]. (b) SDS-PAGE of purified, reassembled complexes by IMAC methods. The expected molecular masses are indicated on the left. [*Non-specific band. BN, H6-NfrGFPBARD1; ZN, H6-ZNfrGFP; ZC, ZCfrGFP-HA]. (c) Expression of NfrGFP-BARD1 and CfrGFP-BRCA1 wild-type and mutant forms.
Table 2.
Clinical and pathological features of BRCA1 c.190T>C related breast cancer cases.
Table 3.
Clinical and pathological features of BRCA1 c.190T>C related ovarian cancer cases.