2026-04-29T07:24:22Zhttps://repisalud.isciii.es/rest/oai/request
oai:repisalud.isciii.es:20.500.12105/160792024-11-29T14:45:05Zcom_20.500.12105_2173com_20.500.12105_2051col_20.500.12105_19597
Repisalud author Marchena-Perea, Erik Michel author Salazar-Hidalgo, Milton Eduardo author Gómez-Sanz, Alicia author Arranz-Ledo, Mónica author Barroso, Alicia author Fernández, Victoria author Tejera-Pérez, Hugo author Pita, Guillermo author Núñez-Torres, Rocío author Pombo, Luz author Morales-Chamorro, Rafael author Cano-Cano, Juana María author Soriano, Maria Del Carmen author Garre, Pilar author Durán, Mercedes author Currás-Freixes, Maria author de la Hoya, Miguel author Osorio, Ana funder Unión Europea. Comisión Europea funder Centro de Investigación Biomédica en Red - CIBERER (Enfermedades Raras) 2023-05-17T10:59:22Z 2023-05-17T10:59:22Z 2022-09-28 Cancers (Basel). 2022 ;14(19):4738. 2072-6694 http://hdl.handle.net/20.500.12105/16079 36230663 10.3390/cancers14194738 Cancers 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. eng GENES MUTATION VARIANTS SPECTRUM BLM WOMEN A Large Case-Control Study Performed in Spanish Population Suggests That RECQL5 Is the Only RECQ Helicase Involved in Breast Cancer Susceptibility. journal article 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 URL https://repisalud.isciii.es/bitstreams/7c32eaba-5b2c-489d-a14c-ffdcaa43a7b9/download File MD5 fd9e35d7fdcec4931eb2331ebed63d0c 541703 application/pdf ALargeCase-ControlStudyPerformed_2022.pdf URL https://repisalud.isciii.es/bitstreams/cca22d3e-fa1d-447c-b3a0-3f14f4d7d163/download File MD5 67f090c743f5e520d40b4df088e025f9 281682 application/pdf Figure S1 Cancers.pdf URL https://repisalud.isciii.es/bitstreams/2d5efc79-ed6a-48e5-819e-6e3a11a2ecf5/download File MD5 7f3332c117f4655c0bb0eb06a1cff56d 111549 application/pdf Table S1 Cancers.pdf URL https://repisalud.isciii.es/bitstreams/08b5b3c4-3af7-4a17-83b5-7be09bd0d7a1/download File MD5 7b3e006026a67d4320469e289e53efe8 121300 application/pdf Table S2 Cancers.pdf URL https://repisalud.isciii.es/bitstreams/9bfa756e-a04a-4801-a486-7b105c1d8f62/download File MD5 1686c3f9a2ee602fb4ba38f17b1f8cd4 53529 text/plain ALargeCase-ControlStudyPerformed_2022.pdf.txt URL https://repisalud.isciii.es/bitstreams/0e0ba173-c024-4def-acdd-e98538159139/download File MD5 8fc602e5efbc01aa64a90d9e6f448b72 644 text/plain Figure S1 Cancers.pdf.txt URL https://repisalud.isciii.es/bitstreams/512f5cc6-99d4-44c2-b75d-ba7ac4c98251/download File MD5 53a98a0d862de25bb0af40e95221bbef 944 text/plain Table S1 Cancers.pdf.txt URL https://repisalud.isciii.es/bitstreams/07f21790-c4b2-4802-8c03-11a7fe794a55/download File MD5 327aacfe9ffc2713e2ef3a79675d1062 5783 text/plain Table S2 Cancers.pdf.txt