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男性乳腺癌、年龄和性染色体非整倍性。

Male breast cancer, age and sex chromosome aneuploidy.

机构信息

Wessex Regional Genetics Laboratory, Salisbury Foundation NHS Trust, Salisbury SP2 8BJ, UK.

出版信息

Br J Cancer. 2013 Mar 5;108(4):959-63. doi: 10.1038/bjc.2012.577. Epub 2013 Jan 8.

Abstract

BACKGROUND

In cultured, dividing transformed T lymphocytes and in dividing bone marrow cells from normal men and those with a haematological malignancy, sex chromosome aneuploidy has been found to increase in prevalence and degree with age. This has rarely been investigated in non-dividing uncultured blood samples. The loss and gain of the X chromosome in dividing transformed lymphocytes in women with age is much more frequent than that of the Y chromosome in males. However, paradoxically X chromosome aneuploidy is rarely seen in the dividing cells of bone marrow of females.

METHODS

In blood samples from 565 men with breast cancer and 54 control men from the England and Wales general population, 80 cell nuclei per sample were scored for presence of X and Y chromosomes using fluorescent centromeric probes.

RESULTS

Sex chromosome aneuploidy, largely Y chromosome loss, was present in 63% of cases and 57% of controls, with the prevalence and degree of aneuploidy increasingly sharply and highly significantly with age. At ages 65-80 years, 71% of cases and 85% of controls showed aneuploidy and 15% and 25%, respectively, had ≥ 10% of cells aneuploid. Allowing for age, aneuploidy was less prevalent (P=0.03) in cases than controls.

CONCLUSION

Sex chromosome aneuploidy in non-dividing nuclei of peripheral blood cells is frequent in adult men, the prevalence and degree increasing sharply with age. The possible relation of sex chromosome aneuploidy to breast cancer risk in men, and to cancer risk generally, needs further investigation, ideally in cohort studies.

摘要

背景

在培养的、分裂的转化 T 淋巴细胞中,以及在正常男性和患有血液恶性肿瘤的男性的分裂骨髓细胞中,性染色体非整倍体的发生率和程度随着年龄的增长而增加。这种情况在未分裂的未培养血液样本中很少被研究。随着年龄的增长,女性转化淋巴细胞中的 X 染色体丢失和获得比男性的 Y 染色体更为频繁。然而,矛盾的是,在女性骨髓的分裂细胞中很少见到 X 染色体非整倍体。

方法

在来自英格兰和威尔士普通人群的 565 名男性乳腺癌患者和 54 名对照男性的 565 名男性乳腺癌患者和 54 名对照男性的血液样本中,使用荧光着丝粒探针对每个样本中的 80 个细胞核进行 X 和 Y 染色体的存在评分。

结果

性染色体非整倍体,主要是 Y 染色体缺失,在 63%的病例和 57%的对照中存在,随着年龄的增长,非整倍体的发生率和程度急剧而显著增加。在 65-80 岁时,71%的病例和 85%的对照出现非整倍体,分别有 15%和 25%的细胞出现≥10%的非整倍体。考虑到年龄因素,病例中非整倍体的发生率低于对照组(P=0.03)。

结论

成人男性外周血非分裂核中的性染色体非整倍体很常见,其发生率和程度随着年龄的增长而急剧增加。性染色体非整倍体与男性乳腺癌风险以及癌症风险的可能关系需要进一步研究,理想情况下是在队列研究中。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93d5/3590654/86178f655253/bjc2012577f1.jpg

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