日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Functional evaluation of variants of unknown significance in the BRCA2 gene identified in genetic testing

对基因检测中发现的BRCA2基因中意义不明的变异进行功能评估

Marie Heczkova ,Eva Machackova ,Peter Macinga ,Eike Gallmeier ,Monika Cahova ,Julius Spicak ,Milan Jirsa ,Lenka Foretova ,Tomas Hucl

Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer

患有乳腺癌和/或卵巢癌的高风险捷克患者的 BRCA1 和 BRCA2 有害突变谱和特征

Eva Machackova, Lenka Foretova, Mirka Lukesova, Petra Vasickova, Marie Navratilova, Ilse Coene, Hana Pavlu, Veronika Kosinova, Jitka Kuklova, Kathleen Claes

High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic

捷克共和国遗传性乳腺癌和卵巢癌综合征中 BRCA1 基因内重排发生率较高

Petra Vasickova, Eva Machackova, Miroslava Lukesova, Jiri Damborsky, Ondrej Horky, Hana Pavlu, Jitka Kuklova, Veronika Kosinova, Marie Navratilova, Lenka Foretova