BRCA1 MUTATIONS IN PRIMARY BREAST AND OVARIAN CARCINOMAS
BRCA1 MUTATIONS IN PRIMARY BREAST AND OVARIAN CARCINOMAS
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DOI：
10.1126/science.7939630
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发表时间：
1994-10-07
期刊：
影响因子：
56.9
通讯作者：
WISEMAN, R
中科院分区：
文献类型：
--
作者：
FUTREAL, PA;LIU, QY;WISEMAN, R
家族性肿瘤杂合性数据的丢失表明，BRCA1基因编码了一种肿瘤抑制基因。BRCA1基因是卵巢癌和早发性乳腺癌的易感基因。在散发性乳腺癌和卵巢癌中，BRCA1区域也容易发生等位基因丢失，这表明BRCA1突变可能发生在这些肿瘤中。研究人员检测了BRCA1编码区在乳腺癌和卵巢肿瘤中的突变情况，发现BRCA1基因座存在等位基因缺失。在32例乳腺癌中检测到3例突变，在12例卵巢癌中检测到1例突变；所有四种突变都是生殖系改变，都发生在早发性癌症中。这些结果表明，BRCA1的突变在大多数乳腺癌和卵巢癌的发生发展中可能不是关键，这些乳腺癌和卵巢癌是在缺乏突变的种系等位基因的情况下发生的。
Loss of heterozygosity data from familial tumors suggest that BRCA1, a gene that confers susceptibility to ovarian and early-onset breast cancer, encodes a tumor suppressor. The BRCA1 region is also subject to allelic loss in sporadic breast and ovarian cancers, an indication that BRCA1 mutations may occur somatically in these tumors. The BRCA1 coding region was examined for mutations in primary breast and ovarian tumors that show allele loss at the BRCA1 locus. Mutations were detected in 3 of 32 breast and 1 of 12 ovarian carcinomas; all four mutations were germline alterations and occurred in early-onset cancers. These results suggest that mutation of BRCA1 may not be critical in the development of the majority of breast and ovarian cancers that arise in the absence of a mutant germline allele.