A family pedigree of malignancies associated with BRCA1 pathogenic variants: a reflection of the state of art in China

机译：与BRCA1致病性变体相关的恶性肿瘤家族谱系：反映了中国的最新技术水平

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摘要

BackgroundLittle is known about the status of genetic counseling for ovarian cancer in China.

机译：背景：关于卵巢癌的基因咨询在中国的现状知之甚少。

著录项

期刊名称 Hereditary Cancer in Clinical Practice
作者
Wenhui Li; Lei Li; Ming Wu;
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作者单位

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年(卷),期 2019(17),-1
年度 2019
页码 26
总页数 5
原文格式 PDF
正文语种
中图分类肿瘤学;
关键词
BRCA mutations Ovarian cancer Genetic counseling Risk-reducing salpingo-oophorectomy;

机译：BRCA突变;卵巢癌;遗传咨询;降低风险的输卵管卵巢切除术;

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专利

1. Estimating the penetrance of pathogenic gene variants in families with missing pedigree information [J] . Jonker Marianne A., Rijken Johannes A., Hes Frederik J., Statistical methods in medical research . 2019,第10a11期

机译：估计缺失血统信息的家庭致病基因变体的渗透
2. About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants [J] . Gutiérrez-EnríquezS., BonacheS., RuízDeGaribayG., International Journal of Cancer =: Journal International du Cancer . 2014,第9期

机译：BRCA1和BRCA2呈阴性的西班牙乳腺癌和卵巢家族中约有1％是RAD51D病原体变异的携带者
3. Pathogenicity evaluation of BRCA1 and BRCA2 unclassified variants identified in portuguese breast/ovarian cancer families [J] . SantosC., PeixotoA., RochaP., The Journal of molecular diagnostics: JMD . 2014,第3期

机译：在葡萄牙乳腺癌/卵巢癌家族中鉴定的BRCA1和BRCA2未分类变体的致病性评估
4. Computational Analysis of BRCA1 Mutations in Pediatric Patients with Malignancies and Their Mothers [C] . George I. Lambrou, Ioanna Barbounaki, Fotini Tzortzatou-Stathopoulou, IEEE International Symposium on Computer-Based Medical Systems . 2017

机译：小儿恶性肿瘤患者及其母亲BRCA1基因突变的计算分析
5. Medical Decision Making among Individuals with a Variant of Uncertain Significance in a Hereditary Cancer Gene and those with a CHEK2 Pathogenic Variant [D] . Almanza, Deanna J. 2019

机译：在遗传癌基因中具有不确定意义的个体的医学决策，以及Chek2致病变异的人
6. A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia‐seizures syndrome 2 (MCAHS2) family pedigree via whole‐exome sequencing [O] . Junli Yang, Qiong Wang, Qingcui Zhuo, 2018

机译：通过全外显子测序确定了在多个先天性异常性低渗性癫痫综合征2（MCAHS2）家族谱系中确定的可能影响PIGA剪接的致病变异
7. Estimating the penetrance of pathogenic gene variants in families with missing pedigree information [O] . Marianne A Jonker, Johannes A Rijken, Frederik J Hes, 2018

机译：估计缺失血统信息的家庭致病基因变种的渗透

A family pedigree of malignancies associated with BRCA1 pathogenic variants: a reflection of the state of art in China

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