Résumé
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.
Résumé
Objective To investigate the knowledge and willingness of genetic counseling and testing in blood relatives of breast cancer patients.Methods A total of 922 blood relatives of breast cancer patients finished our questionnaire.Data were devided into different groups according to age,family history of tumor for statistical analysis.Results Most of the respondents were unaware of genetic counseling and genetic testing.However,after a brief introduction,major of them were willing to accept genetic counseling,breast cancer risk evaluation and screening.Specifically,79.8％ of them were willing to accept genetic counseling,and 62.3％ were willing to accept genetic testing.Most of the respondents would accept inexpensive early genetic screening.For the genetic testing with higher prices,only 37.9％ of them would accept it.Supposing a positive genetic testing result,most of them were willing to perform prevention through close follow-upscreening,31.3％ of them would choose prophylactic surgery or drugs.Despite being told the confidentiality of the test results,32.9％ of them worried about the adverse effects of genetic test.Conclusions Most of the blood relatives of breast cancer patients were unaware of counseling and genetic testing,but had apparent willingness to accept them.Misunderstanding of genetic characteristics,costs and concerning about discrimination are obstacles for the respondents to accept genetic counseling,genetic testing and related screening prevention.