Electronic Resource
A large case-control study performed in Spanish population suggests that RECQL5 is the only RECQ helicase involved in breast cancer susceptibility
| العنوان: | A large case-control study performed in Spanish population suggests that RECQL5 is the only RECQ helicase involved in breast cancer susceptibility |
|---|---|
| المؤلفون: | European Commission, Federación Española de Enfermedades Raras, Marchena-Perea, Erik Michel, Salazar-Hidalgo, Milton Eduardo, Gómez-Sanz, Alicia, Arranz-Ledo, Mónica, Barroso, Alicia, Fernández, Victoria, Tejera-Pérez, Hugo, Pita, Guillermo, Núñez-Torres, Rocío, Pombo, Luz, Morales-Chamorro, Rafael, Cano-Cano, Juana María, Soriano, Maria del Carmen, Garre, Pilar, Durán, Mercedes, Currás-Freixes, María, Hoya, Miguel de la, Osorio, Ana |
| بيانات النشر: | Multidisciplinary Digital Publishing Institute 2022 |
| نوع الوثيقة: | Electronic Resource |
| مستخلص: | Around 50% of the familial breast cancer (BC) cases are estimated to be caused by germline variants in known low-, moderate-, and high-risk susceptibility genes, while the other half is of unknown genetic origin. In the present study, we wanted to evaluate the role of the RECQ helicases, some of which have been studied in the past as candidates, with unclear results about their role in the disease. Using next-generation sequencing (NGS) technology, we analyzed the whole coding sequence of BLM, RECQL1, RECQL4, RECQL5, and WRN in almost 2000 index cases from BC Spanish families that had previously tested negative for the known BC susceptibility genes (BRCAX) and compared the results with the controls extracted from gnomAD. Our results suggest that BLM, RECQL1, RECQL4, and WRN do not play a major role in BC susceptibility. However, in the combined analysis, joining the present results with those previously reported in a series of 1334 BC Spanish patients and controls, we found a statistically significant association between Loss of Function (LoF) variants in RECQL5 and BC risk, with an OR of 2.56 (p = 0.009; 95% CI, 1.18–4.98). Our findings support our previous work and places the RECQL5 gene as a new moderate-risk BC gene. |
| مصطلحات الفهرس: | Breast cancer, RECQ helicase family, Next-generation sequencing, BRCAX, artículo |
| URL: | Publisher's version The underlying dataset has been published as supplementary material of the article in the publisher platform at 10.3390/cancers14194738 Sí |
| الاتاحة: | Open access content. Open access content https://creativecommons.org/licenses/by/4.0 openAccess |
| Other Numbers: | CTK oai:digital.csic.es:10261/296252 Cancers 14(19): 4738 (2022) 10.3390/cancers14194738 1373159490 |
| المصدر المساهم: | CSIC From OAIster®, provided by the OCLC Cooperative. |
| رقم الانضمام: | edsoai.on1373159490 |
| قاعدة البيانات: | OAIster |
| الوصف غير متاح. |