乳腺癌和诊断方法:了解brca1和brca2的作用。

Q4 Medicine
Georgian medical news Pub Date : 2024-10-01
J Borges, R Aithmia, J Mittal, T Bhatnagar, Sh Gupta, B Samrat
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引用次数: 0

摘要

乳腺癌是一种女性一生中有八分之一风险的疾病,使其成为国际负担。虽然乳腺癌主要影响女性,但男性一生中患乳腺癌的风险约为千分之一。大多数乳腺癌病例仍然与在人的一生中获得体细胞突变的乳腺癌有关。这种情况下的突变不会在家族中聚集,也不会遗传。与遗传性乳腺癌相关的特定遗传变量将决定遗传导致的癌症风险。尽管事实上,钙粘蛋白-1(CDH1)、磷酸酶和紧张素(PTEN)、BRCA2的伴侣和定位器(PALB2)、丝氨酸/索氨酸激酶11 (STK11)、检查点激酶2 (CHEK2)和肿瘤蛋白53 (TP53)基因发生突变,乳腺癌基因1(BRCA1)和乳腺癌基因2 (BRCA2)基因的遗传显著增加了发生BRCA的机会。认识到基因突变的功能重要性,为预防乳腺癌创造了途径,并揭示了有希望的治疗方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
BREAST CANCER AND DIAGNOSTIC METHODS: UNDERSTANDING THE ROLE OF BRCA1 AND BRCA2.

Breast cancer is a disease that has a 1 in 8 lifetime risk for women, making it an international burden. Although breast cancer mostly affects women, men have a lifetime risk of around 1 in 1000. The majority of breast cancer instances continue linked to breast cancers that have acquired somatic mutations during a person's lifespan. The mutations that are in the situation do not cluster in families and are not inherited. The particular genetic variables involved in hereditary breast cancer will define a cancer risk due to genetics. Despite fact, Cadherin-1(CDH1), Phosphatase and TENsin (PTEN), Partner and Localizer of BRCA2 (PALB2), serine/threonine kinase 11 (STK11), Checkpoint kinase 2 (CHEK2), and tumor protein 53 (TP53) genes have mutations, a BReast CAncer gene 1 (BRCA1) and BReast CAncer gene 2 (BRCA2) genes, documented to inherit significantly increase a chance of developing BRCA. Recognizing the functional importance of genetic mutations has created avenues to prevent breast cancer and is revealing promising therapeutic approaches.

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来源期刊
Georgian medical news
Georgian medical news Medicine-Medicine (all)
CiteScore
0.60
自引率
0.00%
发文量
207
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