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Published in: Journal of Cancer Research and Clinical Oncology 10/2023

Open Access 27-03-2023 | Mastectomy | Research

Differences among a Portuguese cohort of BRCA pathogenic/likely pathogenic variants carriers choosing risk-reducing mastectomy or intensive breast surveillance

Authors: Sandra Torres, Bárbara Peleteiro, André Magalhães, Luzia Garrido, Susy Costa, José Luís Fougo

Published in: Journal of Cancer Research and Clinical Oncology | Issue 10/2023

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Abstract

Purpose

Women with BRCA1 and BRCA2 (BRCA1/2) pathogenic/likely pathogenic (P/LP) variants have a higher risk to develop breast and ovarian cancer. In structured high-risk clinics, risk-reducing measures are adopted. This study aimed at characterizing these women and identify factors that may have influenced their choice between risk reduction mastectomy (RRM) and intensive breast surveillance (IBS).

Methods

This study reviewed retrospectively 187 clinical records of affected and unaffected women with P/LP variants of the BRCA1/2 genes, from 2007 to 2022, of which 50 chose RRM, while 137 chose IBS. The research focused on personal and family history and tumor characteristics and their relation with the preventive option chosen.

Results

Among women with personal history of breast cancer, a higher proportion opted for RRM compared to those asymptomatic (34.2% vs 21.3%, p = 0.049), with younger age determining the option for RRM (38.5 years vs 44.0 years, p < 0.001). Among women with personal history of ovarian cancer, a higher proportion opted for RRM compared to those without that history (62.5% vs 25.1%, p = 0.033), with younger age determining the option for RRM (42.6 years vs 62.7 years, p = 0.009). Women who had bilateral salpingo-oophorectomy were more likely to choose RRM than those who did not (37.3% vs 18.3%, p = 0.003). Family history was not associated with preventive option (33.3% vs 25.3, p = 0.346).

Conclusions

The decision for the preventive option is multifactorial. In our study, personal history of breast or ovarian cancer, younger age at diagnosis, and previous bilateral salpingo-oophorectomy were associated with the choice of RRM. Family history was not associated with the preventive option.
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Literature
go back to reference den Heijer M, Seynaeve C, Timman R, Duivenvoorden HJ, Vanheusden K, Tilanus-Linthorst M et al (2012) Body image and psychological distress after prophylactic mastectomy and breast reconstruction in genetically predisposed women: a prospective long-term follow-up study. Eur J Cancer 48(9):1263–1268. https://doi.org/10.1016/j.ejca.2011.10.020CrossRef den Heijer M, Seynaeve C, Timman R, Duivenvoorden HJ, Vanheusden K, Tilanus-Linthorst M et al (2012) Body image and psychological distress after prophylactic mastectomy and breast reconstruction in genetically predisposed women: a prospective long-term follow-up study. Eur J Cancer 48(9):1263–1268. https://​doi.​org/​10.​1016/​j.​ejca.​2011.​10.​020CrossRef
go back to reference Stolier AJ, Corsetti RL (2005) Newly diagnosed breast cancer patients choose bilateral mastectomy over breast-conserving surgery when testing positive for a BRCA1/2 mutation. Am Surg 71(12):1031–1033CrossRefPubMed Stolier AJ, Corsetti RL (2005) Newly diagnosed breast cancer patients choose bilateral mastectomy over breast-conserving surgery when testing positive for a BRCA1/2 mutation. Am Surg 71(12):1031–1033CrossRefPubMed
Metadata
Title
Differences among a Portuguese cohort of BRCA pathogenic/likely pathogenic variants carriers choosing risk-reducing mastectomy or intensive breast surveillance
Authors
Sandra Torres
Bárbara Peleteiro
André Magalhães
Luzia Garrido
Susy Costa
José Luís Fougo
Publication date
27-03-2023
Publisher
Springer Berlin Heidelberg
Published in
Journal of Cancer Research and Clinical Oncology / Issue 10/2023
Print ISSN: 0171-5216
Electronic ISSN: 1432-1335
DOI
https://doi.org/10.1007/s00432-023-04663-9

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