Xu C F, Solomon E
Imperial Cancer Research Fund, Lincoln's Inn Field, London, UK.
Semin Cancer Biol. 1996 Feb;7(1):33-40. doi: 10.1006/scbi.1996.0005.
BRCA1 is a putative tumour suppressor gene located on chromosome 17q21. It spans 100kb of genomic DNA and encodes a protein of 200kD consisting of 1863 amino acids. Sixty-three distinct germline mutations of BRCA1 have now been identified in more than 100 patients with breast and/or ovarian cancer. These mutations are distributed across the entire coding region of the BRCA1 gene, and the majority (87%) are predicted to result in truncated proteins or loss of a BRCA1 transcript. No somatic mutations of the BRCA1 gene have been identified in sporadic breast cancers, though five mutations have been found in sporadic ovarian tumours. This suggests that mutations in the BRCA1 gene may play a significant role in the tumorigenesis of familial breast cancer but not of sporadic breast cancer.
BRCA1是一种推定的肿瘤抑制基因，位于17号染色体q21区。它跨越100kb的基因组DNA，编码一个由1863个氨基酸组成的200kD蛋白质。目前已在100多名乳腺癌和/或卵巢癌患者中鉴定出63种不同的BRCA1种系突变。这些突变分布在BRCA1基因的整个编码区域，大多数（87%）预计会导致蛋白质截短或BRCA1转录本缺失。在散发性乳腺癌中未发现BRCA1基因的体细胞突变，不过在散发性卵巢肿瘤中发现了5种突变。这表明BRCA1基因的突变可能在家族性乳腺癌的肿瘤发生中起重要作用，而在散发性乳腺癌中则不然。
