Vanderbilt University Medical Center, 1500 21st Ave. So., Suite 2810, Nashville, TN 37212, USA.
Vanderbilt-Ingram Cancer Center, 2220 Pierce Ave, Nashville, TN 37232, USA.
Genes (Basel). 2024 Jul 5;15(7):881. doi: 10.3390/genes15070881.
Breast cancer (BC) risks imparted by c.1100delC ("1100delC") germline pathogenic/likely pathogenic variant (GPV) are 20-30%, compared to c.470T>C ("I157T") GPV with <20%, leading to different breast screening recommendations through MRI. We compared cancer risk management (CRM) across these two GPVs. Study participants were adult females with an 1100delC or I157T GPV drawn from the Inherited Cancer Registry (ICARE) across the United States. Cancer history, clinical characteristics, and CRM were compared using chi-squared tests, t-tests, and logistic regression. Of 150 carriers, 40.7% had BC, with a mean age of 50. Comparing 1100delC and I157T GPVs, there were no differences in rates of (1) breast MRI among those with (65.2% versus 55.6% of 23 and 9; = 0.612) and without (44.0% versus 44.8% of 50 and 29; = 0.943) BC; (2) risk-reducing mastectomy among those with (50% versus 38.9% of 46 and 15; = 0.501) and without (13.8% versus 6.5% of 58 and 31; = 0.296) BC; and (3) risk-reducing salpingo-oophorectomy among those with (24.2% versus 22.2% of 45 and 18; = 0.852) and without (17.5% versus 16.7% of 57 and 30; = 0.918) BC. The results suggest over-screening with breast MRI among I157T GPV carriers and possible overuse of risk-reducing surgeries among carriers.
乳腺癌 (BC) 风险由 c.1100delC("1100delC") 种系致病性/可能致病性变异 (GPV) 引起的为 20-30%，而 c.470T>C("I157T") GPV 引起的风险<20%，这导致了通过 MRI 进行不同的乳腺筛查建议。我们比较了这两种 GPV 的癌症风险管理 (CRM)。研究参与者是来自美国各地的遗传性癌症登记处 (ICARE) 的具有 1100delC 或 I157T GPV 的成年女性。使用卡方检验、t 检验和逻辑回归比较癌症史、临床特征和 CRM。在 150 名携带者中，40.7%患有 BC，平均年龄为 50 岁。比较 1100delC 和 I157T GPV，在以下方面没有差异：(1) 有 (65.2%与 23 和 9 中的 55.6%；=0.612) 和没有 (44.0%与 50 和 29 中的 44.8%；=0.943) BC 的乳房 MRI 率；(2) 有 (50%与 46 和 15 中的 38.9%；=0.501) 和没有 (13.8%与 58 和 31 中的 6.5%；=0.296) BC 的降低风险的乳房切除术；以及 (3) 有 (24.2%与 45 和 18 中的 22.2%；=0.852) 和没有 (17.5%与 57 和 30 中的 16.7%；=0.918) BC 的降低风险的输卵管卵巢切除术。结果表明，I157T GPV 携带者的乳腺 MRI 过度筛查和 携带者的风险降低手术可能过度使用。
