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Barbara Wappenschmidt

University of Cologne
H指数:54
被引数:1.0万

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A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition
BREAST
IF7.9
2024-06-013
OAAI
Clinical implications of incorporating genetic and non-genetic risk factors in CanRisk-based breast cancer risk prediction

在基于canrik的乳腺癌风险预测中纳入遗传和非遗传危险因素的临床意义

BREAST
IF7.9
2024-02-014
OAAI
FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women

FANCM错义变异与乳腺癌风险: 一项针对75,156名欧洲女性的病例对照协会研究

2023-01-278
OAAI
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach

临床,剪接和功能分析以分类BRCA2外显子3变体: 基于点的ACMG/AMP方法的应用

2022-10-236
OAAI
Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers

多基因风险评分表明女性BRCA1/2致病变异携带者乳腺癌发病的极端年龄

2022-06-277
OAAI
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants

携带BRCA1和BRCA2致病错义变异体的女性与携带蛋白截断变异体的女性相比,患乳腺癌和卵巢癌的风险

2022-01-0117
OAAI
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers (vol 12, 1078, 2021)

仅病例研究,以确定BRCA1/BRCA2突变携带者的乳腺癌风险的遗传调节剂 (第12卷,1078,2021)

2021-05-140
OAAI
Performance of Breast Cancer Polygenic Risk Scores in 760 Female CHEK2 Germline Mutation Carriers
2020-12-2919
OA
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

BRCA1和BRCA2致病变异携带者的多基因风险评分和乳腺癌和上皮性卵巢癌风险

2020-10-0179
OAAI
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort (vol 46, pg 7913, 2018)
2019-12-216
OAAI
Breast cancer risk inBRCA1/2mutation carriers and noncarriers under prospective intensified surveillance

前瞻性强化监测下brca1/2突变携带者和非携带者的乳腺癌风险

2019-05-2232
OAAI
Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer

BARD1基因种系功能缺失变异与早发家族性乳腺癌相关,但与卵巢癌无关

2019-04-2947
OAAI
The GPRC5A frameshift variant c.183del is not associated with increased breast cancer risk in BRCA1 mutation carriers
2019-01-066
OAAI
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort (vol 46, pg 7913, 2018)
2018-10-134
OAAI
Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study
2018-10-1230
OAAI
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort
2018-05-1068
OAAI
The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity
2018-04-0618
OAAI
Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history

无癌症家族史的802例单侧三阴性乳腺癌妇女中致病性BRCA1/2种系突变的发生率

2018-03-0780
OAAI