乳腺癌中RB基因缺失及与乳腺癌发病危险因素关系的研究

Study on the Deletion of RB Gene and Its Relationship to Risk Factors in Chinese Female Breast Cancer

应用PCR扩增方法检测 6 9例女性乳腺癌患者肿瘤组织RB基因外显子 14～ 16和外显子 2 1的存在状态 ,同时分析有关乳腺癌发病危险因子对这种存在状态的可能影响。结果显示 :外显子 14～ 16的缺失率为 2 0 3% (14/6 9) ,外显子 2 1的缺失率为 2 1 7% (15 /6 9) ,总的缺失率为 37 78%。有家族肿瘤史的患者其相应外显子缺失率显著高于无家族肿瘤史的患者 ,而发病年龄、绝经状态、生育史以及ER或PgR状态等因素均与RB相应外显子的缺失无显著性相关。PolychotomousLogistic回归分析显示肿瘤家族史明显增加存在RB基因相应外显子缺失或突变的概率。结果提示RB基因在女性乳腺癌发生过程中有一定的作用 。

To detect the deletion of exon 14 16 and exon 21 of Rb gene in breast cancer and analysis the influence of some related risk factors of breast cancer in it.Female cases of primary breast cancer in Hubei province of China were examined by using the method of PCR amplification analysis.Deletions were detected in 14 of 69(20\^3%)at exon 14 16 and 15 cases have deletion in exon 21(21\^7%).Total deletion was 37\^7%(26/69)and was found more frequently in the cases with the family history of cancer that had an affected first degree or second degree relative than the cases without (75\^0% vs.29\^8%P<0\^001).There are no statistically significance differences for the deletion in the age at menarche,menopause status,and number of birth,Estrogen receptor(ER)or Progesterone receptor(PR)statue.Results of the alaysis of exon 14 16 and exon 21 in comparison to the identified risk factors of breast cancer were used as basis of polychotomous logisitc regression analysis (p\-1 and p\-2 are probability that exon 14 16 and exon 21 mutations,p\-0 is the probability of a negative test).The presence of family history of cancer was noted in particular to increase the probability of a deletion or mutation.Our data indict RB gene may play a role in development of Chinese female breast cancer and the women who have an affected family history of cancer have a high probability of carry a deletion or mutation of exon 14 16 or exon 21 of Rb gene according to the statistical model.