Section Breast Surgery, Department of Surgery, Aga Khan University Hospital, Karachi, 74800, Sindh, Pakistan.
Department of Surgery, Dow University of Health Sciences, Karachi, Sindh, Pakistan.
World J Surg. 2023 Sep;47(9):2154-2160. doi: 10.1007/s00268-023-07033-1. Epub 2023 May 5.
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.
巴基斯坦遗传性乳腺癌的发病率高于平均水平。我们对预防性降低风险乳房切除术（PRRM）的接受程度仍有待确定，并且仍需要向所有符合条件的人提供基因检测。目的是确定在我们中心进行基因检测呈阳性后选择接受 PRRM 的女性人数，以及阻止她们考虑 PRRM 的主要原因。
这是一项单中心前瞻性队列研究。我们收集了 2017 年至 2022 年 BRCA1/2 和其他（P/LP）基因阳性患者的数据。连续变量以平均值（±SD）表示，分类变量以百分比表示，具有统计学意义的 P 值≤0.05。
在 477 名接受测试的个体中，只有 95 名（20.12%）检测结果为阳性。BRCA1/2 阳性 70 例，P/LP 变异 24 例。仅 32.6%的符合条件的家庭接受了基因检测，阳性率为 54.8%。共有 92.6%的患者患有 BRCA1/2 相关癌症。只有 25/95（26.3%）的个体接受了 PRRM，大多数人接受了对侧降低风险的乳房切除术，占 68%，重建率为 20%。拒绝 PRRM 的主要原因是错误地认为没有任何疾病 57.44%，其次是家庭/配偶的压力 51%，身体外观/社会认知，对并发症/生活质量的恐惧和经济限制。
遗传检测及其影响在中低等收入国家仍然是一个灰色地带，主要是因为能够为符合条件的人群提供基因检测的中心稀缺，其次是大众对预防性手术的普遍看法。解决中低等收入国家的相关问题是当务之急。
