波兰遗传性乳腺癌的基因检测:1998-2022。

IF 2 4区 医学 Q3 ONCOLOGY Hereditary Cancer in Clinical Practice Pub Date : 2023-06-13 DOI:10.1186/s13053-023-00252-6
Jacek Gronwald, Cezary Cybulski, Tomasz Huzarski, Anna Jakubowska, Tadeusz Debniak, Marcin Lener, Steven A Narod, Jan Lubinski
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引用次数: 0

摘要

BRCA1和BRCA2突变在世界范围内都是乳腺癌和卵巢癌的诱因。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突变组成。一种快速廉价的检测这三种突变的方法可以以合理的成本用于筛查所有波兰成年人。在波兰西北部的波美拉尼亚地区,进行了近50万次检查,主要是通过聘请家庭医生和通过波美拉尼亚医科大学提供方便的检查。以下评论介绍了波美拉尼亚癌症基因检测的历史,以及目前促进该地区所有成年人在癌症家庭诊所接受基因检测的方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Genetic testing for hereditary breast cancer in Poland: 1998-2022.

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.

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来源期刊
CiteScore
3.10
自引率
5.90%
发文量
38
审稿时长
>12 weeks
期刊介绍: Hereditary Cancer in Clinical Practice is an open access journal that publishes articles of interest for the cancer genetics community and serves as a discussion forum for the development appropriate healthcare strategies. Cancer genetics encompasses a wide variety of disciplines and knowledge in the field is rapidly growing, especially as the amount of information linking genetic differences to inherited cancer predispositions continues expanding. With the increased knowledge of genetic variability and how this relates to cancer risk there is a growing demand not only to disseminate this information into clinical practice but also to enable competent debate concerning how such information is managed and what it implies for patient care. Topics covered by the journal include but are not limited to: Original research articles on any aspect of inherited predispositions to cancer. Reviews of inherited cancer predispositions. Application of molecular and cytogenetic analysis to clinical decision making. Clinical aspects of the management of hereditary cancers. Genetic counselling issues associated with cancer genetics. The role of registries in improving health care of patients with an inherited predisposition to cancer.
期刊最新文献
BRCA2 germline mutation carrier with five malignancies: a case report. A genome-wide association study in Swedish colorectal cancer patients with gastric- and prostate cancer in relatives. Breast cancer and ATM mutations: treatment implications. Meeting abstracts from the Annual Conference "Clinical Genetics of Cancer 2023". Validation of a guidelines-based digital tool to assess the need for germline cancer genetic testing.
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