2026-04-29T07:25:10Zhttps://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

00925njm 22002777a 4500 dc 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 author 2022-09-28 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. Cancers (Basel). 2022 ;14(19):4738. 2072-6694 http://hdl.handle.net/20.500.12105/16079 36230663 10.3390/cancers14194738 Cancers 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.