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1.
Hum Genet ; 127(1): 101-5, 2010 Jan.
Article in English | MEDLINE | ID: mdl-19885677

ABSTRACT

The transcription factor GATA2 was reported to associate with coronary artery disease (CAD) in the family-based Genecard sample (Connelly et al. in PLoS Genet 2:e139, 2006). We asked whether GATA2 associates with sporadic cases of CAD in the Ottawa Heart Genomics Study (OHGS) and Cleveland Clinic (CC) populations. We genotyped the lead single nucleotide polymorphism (SNP) from Genecard, rs2713604 which is located in intron 5-6 of GATA2 in 600 CAD cases and 625 controls, as well as a tag SNP rs1573949 (r (2) = 0.87 in Caucasians of European ancestry in Utah from HapMap) in 1,136 cases and 1,162 controls in the OHGS1 population. A further 1,838 CAD cases and 913 controls derived from an independent sample combining genotypes from CC and OHGS2 populations were genotyped for rs1573949. Neither of the genotyped SNPs associates with CAD in the OHGS1 or CC/OHGS2 populations. Our data suggest that GATA2 does not contribute to the development of angiographic CAD among sporadic cases.


Subject(s)
Coronary Artery Disease/genetics , GATA2 Transcription Factor/genetics , Polymorphism, Single Nucleotide , Adult , Aged , Canada , Coronary Angiography , Coronary Artery Disease/diagnostic imaging , Female , Gene Frequency , Genotype , Humans , Male , Middle Aged , Odds Ratio , Ohio
2.
Can J Gastroenterol ; 18(7): 435-40, 2004 Jul.
Article in English | MEDLINE | ID: mdl-15229745

ABSTRACT

BACKGROUND AND STUDY AIMS: A novel brachytherapy (BT) protocol evaluated at McGill University has shown promise in terms of downstaging and achieving high tumour sterilization rates in rectal cancer. Endoscopic ultrasound (EUS) has emerged as the imaging modality of choice for local staging of rectal cancer. However, external beam radiotherapy appears to decrease the accuracy of EUS from 85% to 40%. The aim of the present study was to prospectively evaluate the accuracy of EUS in assessing the response of rectal cancer to BT. PATIENTS AND METHODS: Thirty-three patients with locally advanced (stage T2 or T3) operable rectal carcinomas were included in an experimental protocol involving a novel conformal technique, using three-dimensional planning, to administer high-dose rate preoperative BT. The 18 patients who were able to have a post-BT EUS exam arranged within two weeks before surgery (eg, four to eight weeks post-BT) were included in this study. Tumour (T)- and lymph node (N)-staging on radial EUS, as well as interpretation of the residual tumour, were assessed prospectively. Pathologists were blinded to the post-BT EUS results. RESULTS: The mean age was 70 years (SD +/- 11; range, 52 to 93 years) and 78% of the patients were male. Pre-BT EUS indicated that 16 patients (89%) were stage T3, and two were stage T2. Five patients (28%) had positive nodes (N1) by ultrasound. With BT, the mean maximal wall thickness on EUS decreased from 14 mm to 9.4 mm (P<0.001). At the time of surgery, seven of the 18 patients (39%) had no detectable tumour in the resected specimen; one had carcinoma in situ, one was stage T1, one was stage T2, and eight were stage T3. Eleven patients (61%) underwent an abdominoperineal resection, including four of the 11 (36%) with no ultimate evidence of residual carcinoma. Eight patients (44%) were node-positive. The sensitivity, specificity, and positive and negative predictive values of post-BT EUS in predicting residual tumour were 82%, 29%, 64% and 50%, respectively. The post-BT EUS accurately predicted the T-stage in eight (44%) patients; most errors were due to overstaging. CONCLUSIONS: Rectal cancer T-staging by EUS post-BT is inaccurate, and although it appears sensitive in predicting the presence or absence of residual tumor in rectal adenocarcinoma after preoperative BT, the low predictive values in this setting limit its utility at this time.


Subject(s)
Adenocarcinoma/radiotherapy , Adenocarcinoma/surgery , Brachytherapy , Endosonography , Neoplasm, Residual/diagnostic imaging , Rectal Neoplasms/radiotherapy , Rectal Neoplasms/surgery , Adenocarcinoma/diagnostic imaging , Adenocarcinoma/pathology , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Prospective Studies , Radiotherapy, Conformal , Rectal Neoplasms/diagnostic imaging , Rectal Neoplasms/pathology , Sensitivity and Specificity
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