Pandis N, Bardi G, Mitelman F, Heim S
Department of Clinical Genetics, Lund University Hospital, Sweden.
Genes Chromosomes Cancer. 1997 Apr;18(4):241-5.
Deletions in the short arm of chromosome 3 have long been known to be common in many tumor types, including carcinomas of the lung and kidney. Small interstitial deletions of the proximal-central region of 3p, with band 3p14 as a minimal common deleted segment, have recently been shown to occur in as many as 10% of carcinomas of the breast, often as the only chromosomal change. Seemingly identical deletions may also be found in the epithelial cells of mixed-lineage benign tumors of the breast and even in diffuse proliferative breast disease, a disorder that would not normally be accepted as neoplastic, but never in completely normal breast tissue. The cytogenetic evidence therefore indicates that the putative tumor suppressor gene deleted from 3p14 influences cellular proliferation; evidently, its loss is often not sufficient for a fully malignant phenotype to emerge. The first information about FHIT, a candidate suppressor gene recently identified in the FRA3B fragile site in 3p14 and found to be abnormal or lost in a high percentage of carcinomas of various organs, including breast, is compatible with such a general proliferation-regulating role.
长期以来，人们已知3号染色体短臂缺失在许多肿瘤类型中很常见，包括肺癌和肾癌。最近发现，3p近端-中央区域的小间隙缺失，以3p14带作为最小常见缺失片段，在多达10%的乳腺癌中出现，通常是唯一的染色体变化。在乳腺混合谱系良性肿瘤的上皮细胞中甚至在弥漫性增生性乳腺病（一种通常不被认为是肿瘤性疾病）中也可能发现看似相同的缺失，但在完全正常的乳腺组织中从未发现。因此，细胞遗传学证据表明，从3p14缺失的假定肿瘤抑制基因影响细胞增殖；显然，其缺失通常不足以导致完全恶性表型的出现。关于FHIT的首个信息与这样一种普遍的增殖调节作用相符，FHIT是最近在3p14的FRA3B脆性位点中鉴定出的一个候选抑制基因，在包括乳腺癌在内的各种器官的高比例癌症中发现其异常或缺失。
