Hereditary cancer in clinical practice · 2026
Are current Polish guidelines for prophylactic mastectomy sufficient?
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Stachowski Adam, Cybulski Cezary, Gronwald Jacek, Huzarski Tomasz, Dębniak Tadeusz, Byrski Tomasz, Narod Steven, Scott Rodney, Lubiński Jan
Аннотация
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.
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.