Familial breast and ovarian cancer-Prevention and treatment

被引：0

作者：

Rhiem, Kerstin ^{[1
]}

Tuechler, Anja ^{[1
]}

Schmutzler, Rita ^{[1
]}

Hahnen, Eric ^{[1
]}

机构：

[1] Univ Klinikum Koln, Ctr Integrierte Onkol, Zentrum Familiarer Brust & Eierstockkrebs, CIO Gebaude 70,Kerpener Str 62, D-50937 Cologne, Germany

来源：

GYNAKOLOGIE | 2024年 / 57卷 / 05期

关键词：

Informed decision; Primary prevention; Polygenic risk scores; Gene diagnostics; Shared decision making; GERMLINE MUTATIONS; RISK; BRCA1; SUSCEPTIBILITY; CARRIERS; WOMEN;

D O I：

10.1007/s00129-024-05222-0

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

In more than 25% of all index patients who fulfil the criteria of the German Consortium of Familial Breast and Ovarian Cancer (DK) for germline testing, possible pathogenic or pathogenic germline variants (PV) in known risk genes are identified. If a germline PV is detected healthy women in a family can be offered predictive testing. In the course of personalized medicine other genetic (polygenic risk scores, PRS) and nongenetic risk factors (lifestyle, hormonal and reproductive factors, mammographic density) are increasingly receiving attention, which can significantly modulate the individual risk of disease. In this way a personalized risk prediction is possible. In healthy women the offer of risk-adapted prevention (participation in an intensified breast cancer screening) can be adjusted to the individual risk. The individualized prevention requires prospective cohort studies to evaluate a benefit for women seeking advice. The analyses should therefore be embedded in a knowledge-generating documentation and evaluation concept. Various materials for those affected have been developed in simple or plain language to address the increased complexity. In addition, patient decision aids and decision coaching support carriers of PVs in the BRCA1 and BRCA2 genes in making decisions with respect to preventive measures.

引用

页码：265 / 272

页数：8

共 46 条

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