Salazar Saez Raquel, Zorrilla Miriam, Sánchez Rosa, Cebollero Ana, Manrique Isabel, Martín Alfonso, de Ávila Leticia, Lacalle-Emborujo Alejandra, Martin-Rodriguez Samuel, Bernardo-González Iván, Alonso Martina
Clinical Oncology Unit, Hospital Universitario San Pedro de Logroño, La Rioja, Spain.
Servicio de Oncología Médica, Hospital Universitario San Pedro, 3ª planta, Calle Piqueras nº 98, Logroño, La Rioja, 26006, Spain.
Hered Cancer Clin Pract. 2024 Oct 22;22(1):22. doi: 10.1186/s13053-024-00296-2.
To study BRCA1/2 gene variants in La Rioja in the northcentral area of Spain.
We performed a molecular analysis of BRCA1 and BRCA2 in 642 individuals from 427 different families from June 2008 to December 2019.
We identified 71 families with pathogenic variants in these genes, 32 families with BRCA1 variants and 39 families with BRCA2 variants. The pathogenic variants c.959delG in BRCA1 and c.1363_1369delTCAGAGA, c.1397dupA, c.4234_4236delACTinsC and c.8387delC in BRCA2 have not been previously described. The c.81-2 A > T variant in BRCA1, detected in two unrelated families, has not been reported previously in the Spanish population. Two large genomic deletions were found in the BRCA1 gene in exons (Ex) 23-24 and Ex1A-1B-2, and one deletion was found in the BRCA2 gene in Ex2. The pathogenic variant c.5123 C > A in BRCA1 was detected in 8 unrelated families and was the most frequent pathogenic variant in our population. The c.6024dupG mutation in BRCA2 was detected in 6 unrelated families; the c.2808_2011delACAA mutation in BRCA2 was found in 5 different families; the c.211 A > G mutation in BRCA1 was found in three different families; and the c.68_69delAG, c81-2 A > T, c.4038_4039delAA, and c.5266dupC variants in BRCA1 and the c.2457delA, c.2701delC, c.5116_5119delAATA, c.6275delTT, c.7558 C > T and c.7617 + 1G > A variants in BRCA2 were found in two different families.
The spectrum of pathogenic variants in the BRCA1/2 genes in La Rioja is similar to that in other Spanish regions, with some unique characteristics. The pathogenic c.6024dupG variant in the BRCA2 gene was detected in a large number of families and could have a founding effect in the Ebro riverside areas in the regions of La Rioja and Navarra.
Not applicable.
研究西班牙中北部拉里奥哈地区的BRCA1/2基因变异情况。
2008年6月至2019年12月，我们对来自427个不同家庭的642名个体进行了BRCA1和BRCA2的分子分析。
我们在这些基因中鉴定出71个携带致病变异的家庭，其中32个家庭携带BRCA1变异，39个家庭携带BRCA2变异。BRCA1基因中的致病变异c.959delG以及BRCA2基因中的c.1363_1369delTCAGAGA、c.1397dupA、c.4234_4236delACTinsC和c.8387delC此前尚未见报道。在两个无亲缘关系的家庭中检测到的BRCA1基因中的c.81-2 A>T变异，此前在西班牙人群中未见报道。在BRCA1基因的外显子（Ex）23-24和Ex1A-1B-2中发现了两个大的基因组缺失，在BRCA2基因的Ex2中发现了一个缺失。BRCA1基因中的致病变异c.5123 C>A在8个无亲缘关系的家庭中被检测到，是我们研究人群中最常见的致病变异。BRCA2基因中的c.6024dupG突变在6个无亲缘关系的家庭中被检测到；BRCA2基因中的c.2808_2011delACAA突变在5个不同家庭中被发现；BRCA1基因中的c.211 A>G突变在3个不同家庭中被发现；BRCA1基因中的c.68_69delAG、c81-2 A>T、c.4038_4039delAA和c.5266dupC变异以及BRCA2基因中的c.2457delA、c.2701delC、c.5116_5119delAATA、c.6275delTT、c.7558 C>T和c.7617+1G>A变异在两个不同家庭中被发现。
拉里奥哈地区BRCA1/2基因的致病变异谱与西班牙其他地区相似，但有一些独特特征。BRCA2基因中的致病变异c.6024dupG在大量家庭中被检测到，可能在拉里奥哈和纳瓦拉地区的埃布罗河畔地区产生奠基效应。
不适用。
