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Objective: Germline mutations in breast cancer susceptibility genes, breast cancer susceptibilitygene 1 (BRCA1) and breast cancer susceptibility gene1 (BRCA2) are responsiblefor a substantial proportion of high-risk breast and breast/ovarian cancer in families.Therefore, the aim of this study was to...
METHODS: This study was combined with quantitative and qualitative designs. First, we performed a quantitative investigation using FACT-B (Chinese version) and Irritability, Depression and Anxiety scale (IDA) to assess the QOL and PS in breast cancer patients who received BRCA1/2 genetic testing. ...
[关键词]专家共识;BRCA1;BRCA2;同源重组;突变筛查;二代测序;胚系突变 [Abstract]Germline mutations in BRCA genes (including BRCA1/2) are the major risk factors for hereditary tumors including breast and ovarian cancer. Population based BRCA gene screening, particularly in high-risk individuals with a...
Aretz S, Jenkins MA, Sunde L et al: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database. Genetics in medicine : official journal of the American College of Medical Genetics 2020, 22(1):15-25....
[关键词]专家共识;BRCA1;BRCA2;同源重组;突变筛查;二代测序;胚系突变 [Abstract]Germline mutations in BRCA genes (including BRCA1/2) are the major risk factors for hereditary tumors including breast and ovarian cancer. Population based BRCA gene screening, particularly in high-risk individuals with a...
1#Ovarian and breast cancer research finds new ways BRCA1 gene functions 2#New name for breast-cancer syndrome could help to save lives 3#大多数男性想不到去查这种乳腺癌基因突变,都是命名惹的祸? 4#BRCA1 新靶点 NKG2A|GARP|CD22|628个靶点|LIF|CDK2| ...
BRCA基因,全称“乳腺癌易感基因”(Breast Cancer Gene),包括两个基因:BRCA1和BRCA2,分别位于人类染色体17q21上和13q12上,是与卵巢癌和乳腺癌发生密切相关的抑癌基因,就像体内细胞的“修理工”,能生产肿瘤抑制蛋白,专门负责修复损伤的双链DNA,细胞周期调控等,并及时修复“生病”的细胞,避免其进一步发展为肿瘤细胞。
[关键词]专家共识;BRCA1;BRCA2;同源重组;突变筛查;二代测序;胚系突变 [Abstract]Germline mutations inBRCAgenes (includingBRCA1/2) are the major risk factors for hereditary tumors including breast and ovarian cancer. Population ...