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Are current Polish guidelines for prophylactic mastectomy sufficient?

Adam Stachowski¹, Cezary Cybulski¹, Jacek Gronwald¹

¹Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, ul. Unii Lubelskiej 1, Szczecin, 71-252, Poland.

Hereditary Cancer in Clinical Practice

|June 5, 2026

Summary

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Updated guidelines recommend prophylactic mastectomy for more women with genetic predispositions to breast cancer, including carriers of TP53, PTEN, PALB2, and CHEK2 pathogenic variants (PVs). This aims to improve early intervention and reduce cancer risk.

Area of Science:

Oncology
Genetics
Preventive Medicine

Background:

Growing knowledge of genetic predispositions to breast cancer necessitates guideline updates.
International Hereditary Cancer Center in Szczecin is updating Polish ministerial guidelines.
Focus on prophylactic mastectomy qualification criteria.

Purpose of the Study:

To update Polish guidelines for prophylactic mastectomy qualification.
To incorporate new data on genetic variants predisposing to breast cancer.
To evaluate the impact of TP53, PTEN, PALB2, and CHEK2 pathogenic variants (PVs).

Main Methods:

Literature review on the impact of TP53, PTEN, PALB2, CHEK2 PVs on breast cancer risk.
Estimation of prophylactic procedures based on pedigree and clinical data.

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Telephone survey of unselected carriers from Cancer Genetics Outpatient Clinics.

Main Results:

Prophylactic mastectomy is justified for all women with germline PVs in TP53, PTEN, or PALB2.
For CHEK2 PVs, mastectomy is recommended for high-risk variants and positive family history.
Estimated increase of 122 bilateral and 25 unilateral procedures annually.

Conclusions:

Current evidence supports expanding prophylactic mastectomy criteria for TP53, PTEN, PALB2, and CHEK2 PV carriers.
Updated guidelines will enhance preventive care for high-risk individuals.
Evidence-based recommendations aim to reduce breast cancer incidence.