King M C, Go R C, Elston R C, Lynch H T, Petrakis N L
Science. 1980 Apr 25;208(4442):406-8. doi: 10.1126/science.7367867.
The patterns of the occurrence of breast cancer in 11 high-risk families were evaluated by segregation and linkage analysis. These patterns were consistent with the hypothesis that increased susceptibility to breast cancer was inherited as an autosomal dominant allele with high penetrance in women. The postulated susceptibility allele in these families may be chromosomally linked to the glutamate-pyruvate transaminase (E.C. 2.6.1.2, alanine aminotransferase) locus. Confirmation of this linkage in other families would establish the existence of a gene increasing susceptibility to breast cancer. Since there is no association in the general population between a woman's glutamate-pyruvate transaminase genotype and her cancer risk, the glutamate-pyruvate transaminase linkage cannot be used as a screening test for breast cancer.
通过分离分析和连锁分析评估了11个高危家族中乳腺癌的发病模式。这些模式与以下假设一致：乳腺癌易感性增加作为常染色体显性等位基因在女性中具有高外显率而遗传。这些家族中假定的易感等位基因可能在染色体上与谷氨酸丙酮酸转氨酶（E.C. 2.6.1.2，丙氨酸转氨酶）基因座连锁。在其他家族中确认这种连锁将证明存在增加乳腺癌易感性的基因。由于在普通人群中女性的谷氨酸丙酮酸转氨酶基因型与其癌症风险之间没有关联，因此谷氨酸丙酮酸转氨酶连锁不能用作乳腺癌的筛查试验。
