Hall J M, Lee M K, Newman B, Morrow J E, Anderson L A, Huey B, King M C
School of Public Health, University of California, Berkeley 94720.
Science. 1990 Dec 21;250(4988):1684-9. doi: 10.1126/science.2270482.
Human breast cancer is usually caused by genetic alterations of somatic cells of the breast, but occasionally, susceptibility to the disease is inherited. Mapping the genes responsible for inherited breast cancer may also allow the identification of early lesions that are critical for the development of breast cancer in the general population. Chromosome 17q21 appears to be the locale of a gene for inherited susceptibility to breast cancer in families with early-onset disease. Genetic analysis yields a lod score (logarithm of the likelihood ratio for linkage) of 5.98 for linkage of breast cancer susceptibility to D17S74 in early-onset families and negative lod scores in families with late-onset disease. Likelihood ratios in favor of linkage heterogeneity among families ranged between 2000:1 and greater than 10(6):1 on the basis of multipoint analysis of four loci in the region.
人类乳腺癌通常由乳腺体细胞的基因改变引起,但偶尔也会遗传对该病的易感性。确定遗传性乳腺癌相关基因或许还能识别出对普通人群乳腺癌发展至关重要的早期病变。在早发性疾病家族中,17号染色体q21区域似乎是一个遗传性乳腺癌易感性基因的所在位置。基因分析得出,早发性家族中乳腺癌易感性与D17S74的连锁分析的lod分数(连锁似然比的对数)为5.98,而晚发性疾病家族的lod分数为阴性。基于该区域四个位点的多点分析,支持家族间连锁异质性的似然比在2000:1至大于10⁶:1之间。