Preudhomme C, Fenaux P, Peyrat J P, Fournier J, Bonneterre J, Vennin P
Inserm U124, C.H.U., Lille, France.
Eur J Cancer. 1993;29A(10):1476-8. doi: 10.1016/0959-8049(93)90023-9.
We looked for germline mutations of exons 5 to 8 of the P53 gene in 27 female patients from 26 families originating from the north of France who had breast cancer and at least one first degree relative also affected with breast cancer. Detection of the mutations was made by single strand conformation polymorphism analysis. No mutation was found in any patient, confirming that germline mutations of the P53 gene are very rare in familial breast cancer (apart from Li Fraumeni families).
我们在来自法国北部的26个家庭的27名女性乳腺癌患者中寻找P53基因外显子5至8的种系突变，这些患者均患有乳腺癌，且至少有一位一级亲属也患有乳腺癌。通过单链构象多态性分析检测突变。未在任何患者中发现突变，这证实了P53基因的种系突变在家族性乳腺癌中非常罕见（除李-弗劳梅尼家族外）。
