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Objective To investigate the prevalence of BRCA1/2 gene mutations among Uygur and Han sporadic breast cancer patients in Xinjiang Uygur Automous.Methods Polymerase chain reaction ( PCR) and DNA se-quencing was used to detect mutations of BRCA1(exons 2, 11(11A and 11B) and 20) and BRCA2(exon 11) genes in the Paraffin imbedding tissues from 230 sporadic breast cancer patients ( 115 Uygur and 115 Han ) in Xinjiang Uygur Automous.Results In the 230 cases of sporadic breast cancer patients, 16 cases have gene mu-tation ( 16/230 ,6.96%) .One case of BRCA1 gene in 16 cases of mutations -5 382 locus mutation and 7 cases of new mutations.There was 2 germline mutation in exon 11 of BRCA2 gene.BRCA gene mutation rates of Uygur and Han patients were 7.83% ( 9/115 ) and 6.09% ( 7/115 ) .The onset age of mutations group were 50 or less.Mutations group of patients with amenorrhea ( 3 ) were less than whom were premenopausal ( 13 ) ( P <0.05 ) .Conclusions The prevalence of BRCA1 mutations was significantly higher than BRCA2 in sporadic breast cancer patients of Xinjiang.
ABSTRACT
<p><b>OBJECTIVE</b>To study the correlation between amplification of chromosome 1 and histological typing and clinical staging of thymic epithelial tumors according to the WHO classification.</p><p><b>METHODS</b>Amplification of chromosome 1 was detected by interphase fluorescence in-situ hybridization (FISH) in 60 cases of thymic epithelial tumors, including type A thymoma (2 cases), type AB (19 cases), B1 (4 cases), B2 (14 cases), B3 (11 cases), metaplastic thymoma (2 cases), and thymic carcinoma (8 cases) and 11 samples of normal thymus.</p><p><b>RESULTS</b>Gain on chromosome 1 was found in 19 cases (31.7%) of thymic epithelial tumors, and none was detected in normal thymic tissues (P < 0.05). The positive rates of gain on chromosome 1 were statistically different among various histological subtypes of thymic epithelial tumors (P < 0.05), in which the highest rate of detection was in thymic carcinoma (6/8), the second, type B3 (6/11), followed by type A (1/2), type AB (4/19), type B2 (2/14) and type B1 (0). The positive rate of gain on chromosome 1 in type B3 had no statistical difference from thymic carcinoma (P > 0.05), but significantly higher than that in other types of thymoma (P < 0.05). In addition, the polysomy rate of chromosome 1 was significantly different among the thymic epithelial tumors at different clinical stages (P = 0.023), and that at stages III and IV was statistically higher than that in stages I and II (P = 0.003) but there was no significant difference between stage I and stage II tumors (P = 0.750).</p><p><b>CONCLUSIONS</b>Gain on chromosome 1 is more common in thymic carcinoma and type B3 thymoma than that in other subtypes of thymic epithelial tumors. Thymoma of type B3 may have different genetic features from other subtypes. Detection of gain on chromosome 1 by FISH is helpful in the differential diagnosis and prediction of prognosis in patients with thymic epithelium tumors.</p>