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乳腺癌的群体遗传学特征及其与特定样本中 Rh 因子的关联。

Population-genetic Aspects of Breast Cancers and Association with Rh Factor in Selected Sample.

机构信息

Department of Medical Biology with Human genetics, Faculty of Medicine, University of Sarajevo, Bosnia and Herzegovina.

Health Centre, City of Vitez, Bosnia and Herzegovina.

出版信息

Med Arch. 2021 Dec;75(6):413-417. doi: 10.5455/medarh.2021.75.413-417.

DOI:10.5455/medarh.2021.75.413-417
PMID:35169367
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8802679/
Abstract

BACKGROUND

Breast cancer in women is the second most common and accounts for approximately 18% of all malignant tumors in women worldwide. The etiology of breast cancer is not clear enough. Starting from the assumption that the manifestation of breast cancer may have a multifactorial model, this article compares the population-genetic structure of patients (experimental group) with the population-genetic structure of healthy population (control group).

OBJECTIVE

The aim of the study was to examine the possible genetic basis of the Rh factor relationship with selected homozygous-recessive traits of females with breast cancer, and to diagnose the probability (assess the risk) of developing the disease in healthy women by analyzing homozygous-recessive traits (HRT).

METHODS

This are an anthroposcopic-qualitative study that included two groups of subjects, experimental and control (a total of 80 subjects). An analysis of the percentages within each group was performed using the Chi-square test. The results are presented in tables, and the accepted level of significance is at the level of p <0.05.

RESULTS

In the group of Rh+ subjects, the correlation of this type of Rh factor with the breast cancer was proven, given the frequency of the phenotype of homozygous-recessive traits in them. A statistically significant difference was found for 4 traits, and three are also close to the set significance level. In subjects with Rh- factor, a statistically significant difference was found for only one trait (absence of mallets on the phalanges).

CONCLUSION

Although the number of subjects was relatively small, we can conclude that in the experimental group a higher frequency of recessive phenotypes for the examined traits was recorded, which indicates the genetic load of the subjects from this group. Correlation with Rh factor was observed in the case of subjects of the experimental group with Rh+ factor.

摘要

背景

女性乳腺癌是全球第二大常见癌症,约占女性所有恶性肿瘤的 18%。乳腺癌的病因尚不清楚。从乳腺癌的表现可能具有多因素模型的假设出发,本文比较了患者(实验组)的群体遗传结构与健康人群(对照组)的群体遗传结构。

目的

本研究旨在探讨 Rh 因子与女性乳腺癌某些纯合隐性特征的关系的遗传基础,并通过分析纯合隐性特征(HRT)来诊断健康女性患该病的概率(评估风险)。

方法

这是一项采用人体测量学-定性方法进行的研究,包括实验组和对照组两组受试者(共 80 名受试者)。使用卡方检验对每组内的百分比进行分析。结果以表格形式呈现,接受的显著性水平为 p<0.05。

结果

在 Rh+ 组中,由于该型 Rh 因子表型的频率,证明了这种 Rh 因子类型与乳腺癌之间的相关性。发现 4 个特征存在统计学差异,其中 3 个特征也接近设定的显著性水平。在 Rh- 因子的受试者中,仅发现一个特征(指骨上无锤状指)存在统计学差异。

结论

尽管受试者数量相对较少,但我们可以得出结论,在实验组中,所检查特征的隐性表型频率较高,这表明该组受试者的遗传负荷较高。在 Rh+ 因子的实验组中观察到 Rh 因子与乳腺癌之间的相关性。

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Breast Cancer-Epidemiology, Risk Factors, Classification, Prognostic Markers, and Current Treatment Strategies-An Updated Review.乳腺癌——流行病学、危险因素、分类、预后标志物及当前治疗策略——最新综述
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Epidemiological characteristics of and risk factors for breast cancer in the world.全球乳腺癌的流行病学特征及危险因素
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Association of ABO and Rh blood groups with breast cancer.ABO血型和Rh血型与乳腺癌的关联。
Saudi J Biol Sci. 2017 Nov;24(7):1609-1613. doi: 10.1016/j.sjbs.2017.01.058. Epub 2017 Feb 3.
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Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers.BRCA1 和 BRCA2 基因突变携带者的乳腺癌、卵巢癌和对侧乳腺癌风险。
JAMA. 2017 Jun 20;317(23):2402-2416. doi: 10.1001/jama.2017.7112.
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Breast Cancer Res. 2016 Oct 3;18(1):99. doi: 10.1186/s13058-016-0759-4.
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J Natl Cancer Inst. 2015 Apr 8;107(5). doi: 10.1093/jnci/djv036. Print 2015 May.
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Genetics of breast cancer: a topic in evolution.乳腺癌遗传学:一个不断发展的主题。
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Rare-variant association analysis: study designs and statistical tests.罕见变异关联分析:研究设计与统计检验。
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Cancer statistics, 2014.癌症统计数据,2014 年。
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