【J9官网 J9基因检测】BRCA1基因评估分析后采用什么药物治疗比较有效果？

基因检测的序列名称：

BRCA1

人体基因序列变化与疾病表征数据库中的基因代码：

672

人体基因序列数据库中国际研讨名称全称

BRCA1 DNA repair associated

中国数据库中基因全称：

BRCA1 DNA修复相关

基因检测报告英文版基因简介

This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2009]

基因突变所影响的基因信息

该基因编码核磷蛋白，在维持基因组稳定性中起作用，并且还充当肿瘤抑制因子。编码的蛋白质与其他肿瘤抑制因子，DNA损伤传感器和信号转导物结合形成一个大型的多亚基蛋白质复合物，称为BRCA1相关基因组监视复合物（BASC）。该基因产物与RNA聚合酶II结合，并顺利获得C末端域也与组蛋白脱乙酰基酶复合物相互作用。因此，该蛋白质在转录，双链断裂的DNA修复以及重组中发挥作用。该基因的突变约占遗传性乳腺癌的40％，占遗传性乳腺癌和卵巢癌的80％以上。选择性剪接在调节该基因的亚细胞定位和生理功能中起作用。已经为该基因描述了ು୔

国际国内该碱基基因序列的其他英语文字母简称：

BRCAI, BRCC1, BROVCA1, FANCS, IRIS, PNCA4, PPP1R53, PSCP, RNF53

基因解码对该基因序列在细胞核中的染色体所给予的编号：

该基因序列位于人类第17号染色体上。

基因解码对基因序列的正确定位

该基因序列在GRCh37版本中的起始位置坐标为：41196312；结束位置坐标为：41277500。该基因序列在GRCh38版本中的起始位置坐标为：43044295；结束位置坐标为：43125483。正确的基因信息定位是基因检测和对检测结果进行正确解读的关键。

J9官网 J9基因解码对该基因的功能分类：国际版

Enzymes/ENZYME proteins/Transferases

基因解码对该基因的功能分类：中文版

酶/酶蛋白/转移酶

结构与功能基因解码所揭示的该基因在细胞内发挥作用的场所（国际版）：

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结构与功能基因解码所揭示的该基因发挥作用的细胞内位置（中文版）：

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该基因序列变化后增加的疾病风险（国际版）：

Primary Peritoneal Carcinoma; Malignant neoplasm of ovary; Peritonitis; BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; Breast Cancer, Familial; Pancreatic carcinoma, familial; BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3; Mouth Diseases; BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; Prostate cancer, familial; Hereditary Breast and Ovarian Cancer Syndrome; Malignant neoplasm of breast; Breast Carcinoma; Chromosome Breakage; Abdomen distended; Pancreatic Neoplasm; Adenoid Cystic Carcinoma; Nausea and vomiting; ovarian neoplasm; Abdominal Pain; Neoplastic Cell Transformation; Dyschezia; Animal Mammary Neoplasms; Constipation; Mammary Neoplasms, Experimental; Mental Depression; Depressive disorder; Mammary Neoplasms; Prostatic Neoplasms; Schizophrenia

如果该基因突变后，风险可能增加的疾病类型（中文版）：

原发性腹膜癌；卵巢恶性肿瘤；腹膜炎;乳腺癌-卵巢癌家族性易感性2型；乳腺癌家族性；胰腺癌家族性；乳腺癌-卵巢癌家族性易感性2型；口腔疾病；乳腺癌-卵巢癌家族性易感性2型；前列腺癌家族性；遗传性乳腺癌和卵巢癌综合征；乳腺恶性肿瘤；乳腺癌；染色体断裂；腹部膨胀；胰腺肿瘤；腺样囊性癌；恶心和呕吐;卵巢肿瘤;腹痛；肿瘤细胞转化；排便困难；动物乳腺肿瘤；便秘;乳腺肿瘤实验性的；精神抑郁症；抑郁症；乳腺肿瘤；前列腺肿瘤；精神分裂症