Are current Polish guidelines for prophylactic mastectomy sufficient?

IF 2.8 4区医学 Q3 ONCOLOGY

Hereditary Cancer in Clinical Practice Pub Date : 2026-06-04 DOI:10.1186/s13053-026-00338-x

Adam Stachowski, Cezary Cybulski, Jacek Gronwald, Tomasz Huzarski, Tadeusz Dębniak, Tomasz Byrski, Steven Narod, Rodney Scott, Jan Lubiński

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引用次数: 0

Abstract

Aim: Due to the expansion of knowledge about genetic predispositions to breast cancer, the International Hereditary Cancer Center in Szczecin has been solicited to update the Polish ministerial guidelines for the qualification of patients who should be offered prophylactic mastectomy.

Methods: This publication is a review of the scientific literature on the impact of TP53, PTEN, PALB2, CHEK2 pathogenic variants (PVs) predisposing to breast cancer. The number of prophylactic procedures was estimated in May 2024 based on the analysis of pedigree, clinical data and a telephone survey of unselected carriers of the Cancer Genetics Outpatient Clinics in Szczecin.

Results: The literature data justifies prophylactic mastectomy in all women who carry germline pathogenic variants in TP53, PTEN or PALB2. For CHEK2 carriers prophylactic mastectomy is only justified for women carrying a high-risk variant (i.e. carriers of protein-truncating variants with a positive breast cancer family history). We propose these changes will result in approximately 122 additional bilateral procedures and 25 unilateral procedures annually.

Conclusions: Current, evidence based data supports extending the qualification criteria for prophylactic mastectomy among TP53, PTEN, PALB and CHEK2 PV carriers.

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波兰现行的预防性乳房切除术指南是否足够？

目的：由于关于乳腺癌遗传易感性的知识的扩大，什切辛的国际遗传癌症中心已被要求更新波兰部长指南，以确定应该提供预防性乳房切除术的患者的资格。方法：本文对TP53、PTEN、PALB2、CHEK2致病性变异（pv）对乳腺癌易感性影响的科学文献进行综述。预防手术的数量是在2024年5月根据对什切青癌症遗传门诊诊所未选择携带者的谱系分析、临床数据和电话调查估计的。结果：文献数据证明，所有携带TP53、PTEN或PALB2种系致病变异的女性都应进行预防性乳房切除术。对于CHEK2携带者，预防性乳房切除术仅适用于携带高危变异的女性（即具有阳性乳腺癌家族史的蛋白截断变异携带者）。我们建议这些变化每年将导致大约122个额外的双边程序和25个单方面程序。结论：目前基于证据的数据支持在TP53、PTEN、PALB和CHEK2 PV携带者中扩大预防性乳房切除术的资格标准。

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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来源期刊

Hereditary Cancer in Clinical Practice 医学-肿瘤学

CiteScore

3.10

自引率

5.90%

发文量

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.