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Genetic testing for hereditary breast cancer in Poland: 1998–2022
Hereditary Cancer in Clinical Practice ( IF 1.7 ) Pub Date : 2023-06-13 , DOI: 10.1186/s13053-023-00252-6
Jacek Gronwald 1 , Cezary Cybulski 1 , Tomasz Huzarski 1 , Anna Jakubowska 1 , Tadeusz Debniak 1 , Marcin Lener 1 , Steven A Narod 2, 3 , Jan Lubinski 1
Affiliation  

BRCA1 and BRCA2 mutations contribute to both breast cancer and ovarian cancer worldwide. In Poland approximately 4% of patients with breast cancers and 10% of patients with ovarian cancer carry a mutation in BRCA1. The majority of mutations consist of three founder mutations. A rapid inexpensive test for these three mutations can be used to screen all Polish adults at a reasonable cost. In the region of Pomerania of North-western Poland nearly half a million tests have been performed, in large part through engaging family doctors and providing ready access to testing through the Pomeranian Medical University. The following commentary provides a history of genetic testing for cancer in Pomerania and the current approach to facilitating access to genetic testing at the Cancer Family Clinic for all adults living in the region.

中文翻译:

波兰遗传性乳腺癌基因检测:1998–2022

BRCA1 和 BRCA2 突变导致了全世界的乳腺癌和卵巢癌。在波兰,大约 4% 的乳腺癌患者和 10% 的卵巢癌患者携带 BRCA1 突变。大多数突变由三个创始人突变组成。针对这三种突变的快速廉价检测可用于以合理的成本筛查所有波兰成年人。在波兰西北部的波美拉尼亚地区,已经进行了近 50 万次检测,这在很大程度上是通过聘请家庭医生并通过波美拉尼亚医科大学提供现成的检测途径进行的。以下评论提供了波美拉尼亚癌症基因检测的历史,以及目前为生活在该地区的所有成年人提供癌症家庭诊所基因检测便利的方法。
更新日期:2023-06-13
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