Prophylactic Risk-Reducing Mastectomy (PRRM): A Set Practice or Catch-22 Situation in LMIC. A Single-Centre Prospective Cohort Study

Background Pakistan’s hereditary breast cancer has a higher-than-average prevalence. Our acceptability of prophylactic risk-reducing mastectomy (PRRM) still needs to be determined, and genetic testing still needs to be offered to all eligible. The aim is to determine the number of women presenting t...

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Veröffentlicht in:World journal of surgery 2023-09, Vol.47 (9), p.2154-2160
Hauptverfasser: Mooghal, Mehwish, Vohra, Lubna M., Khan, Wajiha, Akbar, Fizza
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container_issue 9
container_start_page 2154
container_title World journal of surgery
container_volume 47
creator Mooghal, Mehwish
Vohra, Lubna M.
Khan, Wajiha
Akbar, Fizza
description Background Pakistan’s hereditary breast cancer has a higher-than-average prevalence. Our acceptability of prophylactic risk-reducing mastectomy (PRRM) still needs to be determined, and genetic testing still needs to be offered to all eligible. The aim is to determine the number of women presenting to our centre who availed of PRRM after positive genetic tests and the main reasons restraining them from considering PRRM. Materials and methods This study is a single-centre, prospective cohort. We collected data from 2017 to 2022 on BRCA1/2 and other ( P /LP) gene-positive patients. Continuous variables are presented as means (±SD) and categorical variables in percentages, with a significant P -value of ≤ 0.05. Results Out of 477 tested individuals, only 95(20.12%) had a positive result. BRCA1/2 was positive in 70 cases, while P /LP variants were in 24 cases. Only 32.6% of eligible families underwent genetic testing, with 54.8% positivity. Altogether, 92.6% of patients had BRCA1/2-related cancers. Only 25/95(26.3%) individuals availed of PRRM, the majority had contralateral risk-reducing mastectomy 68% with a 20% reconstruction rate. The main reasons to decline PRRM were false belief of not having any disease 57.44%, followed by family/spouse pressure 51%, body appearance/societal perception, fear of complications/quality of life and financial constraints. Conclusion Genetic testing and its implications are still a grey area for LMICs, primarily due to the scarcity of centres offering genetic testing to eligible populations, followed by prevalent perceptions about prophylactic surgeries among the masses. Addressing relevant issues in LMICs is the need of time.
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A Single-Centre Prospective Cohort Study</title><source>MEDLINE</source><source>Wiley Online Library Journals Frontfile Complete</source><source>Springer Nature - Complete Springer Journals</source><creator>Mooghal, Mehwish ; Vohra, Lubna M. ; Khan, Wajiha ; Akbar, Fizza</creator><creatorcontrib>Mooghal, Mehwish ; Vohra, Lubna M. ; Khan, Wajiha ; Akbar, Fizza</creatorcontrib><description>Background Pakistan’s hereditary breast cancer has a higher-than-average prevalence. Our acceptability of prophylactic risk-reducing mastectomy (PRRM) still needs to be determined, and genetic testing still needs to be offered to all eligible. The aim is to determine the number of women presenting to our centre who availed of PRRM after positive genetic tests and the main reasons restraining them from considering PRRM. Materials and methods This study is a single-centre, prospective cohort. We collected data from 2017 to 2022 on BRCA1/2 and other ( P /LP) gene-positive patients. Continuous variables are presented as means (±SD) and categorical variables in percentages, with a significant P -value of ≤ 0.05. Results Out of 477 tested individuals, only 95(20.12%) had a positive result. BRCA1/2 was positive in 70 cases, while P /LP variants were in 24 cases. Only 32.6% of eligible families underwent genetic testing, with 54.8% positivity. Altogether, 92.6% of patients had BRCA1/2-related cancers. Only 25/95(26.3%) individuals availed of PRRM, the majority had contralateral risk-reducing mastectomy 68% with a 20% reconstruction rate. The main reasons to decline PRRM were false belief of not having any disease 57.44%, followed by family/spouse pressure 51%, body appearance/societal perception, fear of complications/quality of life and financial constraints. Conclusion Genetic testing and its implications are still a grey area for LMICs, primarily due to the scarcity of centres offering genetic testing to eligible populations, followed by prevalent perceptions about prophylactic surgeries among the masses. 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A Single-Centre Prospective Cohort Study</title><title>World journal of surgery</title><addtitle>World J Surg</addtitle><addtitle>World J Surg</addtitle><description>Background Pakistan’s hereditary breast cancer has a higher-than-average prevalence. Our acceptability of prophylactic risk-reducing mastectomy (PRRM) still needs to be determined, and genetic testing still needs to be offered to all eligible. The aim is to determine the number of women presenting to our centre who availed of PRRM after positive genetic tests and the main reasons restraining them from considering PRRM. Materials and methods This study is a single-centre, prospective cohort. We collected data from 2017 to 2022 on BRCA1/2 and other ( P /LP) gene-positive patients. Continuous variables are presented as means (±SD) and categorical variables in percentages, with a significant P -value of ≤ 0.05. Results Out of 477 tested individuals, only 95(20.12%) had a positive result. BRCA1/2 was positive in 70 cases, while P /LP variants were in 24 cases. Only 32.6% of eligible families underwent genetic testing, with 54.8% positivity. Altogether, 92.6% of patients had BRCA1/2-related cancers. Only 25/95(26.3%) individuals availed of PRRM, the majority had contralateral risk-reducing mastectomy 68% with a 20% reconstruction rate. The main reasons to decline PRRM were false belief of not having any disease 57.44%, followed by family/spouse pressure 51%, body appearance/societal perception, fear of complications/quality of life and financial constraints. Conclusion Genetic testing and its implications are still a grey area for LMICs, primarily due to the scarcity of centres offering genetic testing to eligible populations, followed by prevalent perceptions about prophylactic surgeries among the masses. 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A Single-Centre Prospective Cohort Study</atitle><jtitle>World journal of surgery</jtitle><stitle>World J Surg</stitle><addtitle>World J Surg</addtitle><date>2023-09</date><risdate>2023</risdate><volume>47</volume><issue>9</issue><spage>2154</spage><epage>2160</epage><pages>2154-2160</pages><issn>0364-2313</issn><eissn>1432-2323</eissn><abstract>Background Pakistan’s hereditary breast cancer has a higher-than-average prevalence. Our acceptability of prophylactic risk-reducing mastectomy (PRRM) still needs to be determined, and genetic testing still needs to be offered to all eligible. The aim is to determine the number of women presenting to our centre who availed of PRRM after positive genetic tests and the main reasons restraining them from considering PRRM. Materials and methods This study is a single-centre, prospective cohort. We collected data from 2017 to 2022 on BRCA1/2 and other ( P /LP) gene-positive patients. Continuous variables are presented as means (±SD) and categorical variables in percentages, with a significant P -value of ≤ 0.05. Results Out of 477 tested individuals, only 95(20.12%) had a positive result. BRCA1/2 was positive in 70 cases, while P /LP variants were in 24 cases. Only 32.6% of eligible families underwent genetic testing, with 54.8% positivity. Altogether, 92.6% of patients had BRCA1/2-related cancers. Only 25/95(26.3%) individuals availed of PRRM, the majority had contralateral risk-reducing mastectomy 68% with a 20% reconstruction rate. The main reasons to decline PRRM were false belief of not having any disease 57.44%, followed by family/spouse pressure 51%, body appearance/societal perception, fear of complications/quality of life and financial constraints. Conclusion Genetic testing and its implications are still a grey area for LMICs, primarily due to the scarcity of centres offering genetic testing to eligible populations, followed by prevalent perceptions about prophylactic surgeries among the masses. Addressing relevant issues in LMICs is the need of time.</abstract><cop>Cham</cop><pub>Springer International Publishing</pub><pmid>37145137</pmid><doi>10.1007/s00268-023-07033-1</doi><tpages>7</tpages><orcidid>https://orcid.org/0000-0002-6386-4047</orcidid></addata></record>
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subjects Abdominal Surgery
BRCA1 protein
BRCA1 Protein - genetics
BRCA2 Protein - genetics
Breast cancer
Breast Neoplasms - genetics
Breast Neoplasms - prevention & control
Breast Neoplasms - surgery
Cardiac Surgery
Cohort analysis
Complications
Continuity (mathematics)
Developing Countries
Female
General Surgery
Genetic screening
Genetic testing
Humans
Mastectomy
Medicine
Medicine & Public Health
Mutation
Original Scientific Report
Population genetics
Prospective Studies
Quality of Life
Risk
Surgery
Thoracic Surgery
Vascular Surgery
title Prophylactic Risk-Reducing Mastectomy (PRRM): A Set Practice or Catch-22 Situation in LMIC. A Single-Centre Prospective Cohort Study
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