Brabender Danielle, Siegel Emily, Culver Julie O, Comeaux Jacob G, Date Anjali, Woodworth Amanda
Department of Surgery, Keck School of Medicine of USC, University of Southern California, Los Angeles, CA, USA.
Department of Medicine, Keck School of Medicine of USC, University of Southern California, Los Angeles, CA, USA.
Ann Surg Oncol. 2025 Aug 6. doi: 10.1245/s10434-025-17820-w.
Only a subset of individuals meeting National Comprehensive Cancer Network (NCCN) guidelines for genetic screening of hereditary cancers are being offered testing. A community-based screening program has the potential to expand access, identify critical screening opportunities among those testing positive, and have potential downstream clinical effects.
We conducted a retrospective review of women who underwent mammography and genetic testing at a community hospital between August 2020 and May 2023. For those testing positive for a pathogenic/likely pathogenic (P/LP) variant, potential cancer screening and surgical recommendations were identified utilizing NCCN guidelines.
A total of 14,192 women were screened, with 3224 (23%) meeting NCCN criteria. Of these patients, 50.3% opted for testing and 7.6% were found to have P/LP variants, encompassing 18 different genes. The genes with the highest prevalence of P/PV variants included CHEK2 (26%), MUTYH (21%), BRCA2 (8%), APC I1370K (8%), and Lynch Syndrome-associated (7%). Among those positive for a P/LP variant, individuals were identified to be at an increased risk for at least one form of cancer, including breast (52%), colon (45%), ovarian (31%), pancreas (28%), melanoma (20%), endometrial (11%), urologic (7%), and stomach/small bowel (7%), leading to a potential change in screening and risk-reducing surgery recommendations. For the total population tested, 5.3% of women qualified for MRI or earlier mammograms, and 3.4% needed earlier or more frequent screening colonoscopies.
These findings suggest that a community-based genetic program can identify individuals at increased cancer risk who might otherwise remain undetected. These results provide opportunities to reduce morbidity/mortality through increased screening and risk-reducing procedures.
只有一部分符合美国国立综合癌症网络（NCCN）遗传性癌症基因筛查指南的个体正在接受检测。基于社区的筛查项目有可能扩大检测机会，在检测呈阳性的人群中识别关键的筛查机会，并产生潜在的下游临床影响。
我们对2020年8月至2023年5月期间在一家社区医院接受乳房X线摄影和基因检测的女性进行了回顾性研究。对于那些检测出致病性/可能致病性（P/LP）变异呈阳性的患者，利用NCCN指南确定潜在的癌症筛查和手术建议。
总共对14192名女性进行了筛查，其中3224名（23%）符合NCCN标准。在这些患者中，50.3%选择进行检测，7.6%被发现有P/LP变异，涉及18个不同基因。P/PV变异患病率最高的基因包括CHEK2（26%）、MUTYH（21%）、BRCA2（8%）、APC I1370K（8%）和林奇综合征相关基因（7%）。在P/LP变异呈阳性的人群中，发现个体患至少一种癌症的风险增加，包括乳腺癌（52%）、结肠癌（45%）、卵巢癌（31%）、胰腺癌（28%）、黑色素瘤（20%）、子宫内膜癌（11%）、泌尿系统癌症（7%）以及胃癌/小肠癌（7%），这导致筛查和降低风险手术建议可能发生变化。在接受检测的总体人群中，5.3%的女性符合进行MRI或更早乳房X线摄影的条件，3.4%的女性需要更早或更频繁地进行结肠镜筛查。
这些发现表明，基于社区的基因项目可以识别出癌症风险增加但可能未被发现的个体。这些结果为通过增加筛查和降低风险程序来降低发病率/死亡率提供了机会。
