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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2003 2
2004 1
2005 1
2006 1
2007 1
2009 2
2010 2
2011 1
2012 2
2013 5
2014 3
2015 1
2018 4
2019 2
2020 2
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24 results
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Page 1
A PALB2 truncating mutation: Implication in cancer prevention and therapy of Hereditary Breast and Ovarian Cancer.
Velázquez C, Esteban-Cardeñosa EM, Lastra E, Abella LE, de la Cruz V, Lobatón CD, Durán M, Infante M. Velázquez C, et al. Among authors: infante m. Breast. 2019 Feb;43:91-96. doi: 10.1016/j.breast.2018.11.010. Epub 2018 Nov 29. Breast. 2019. PMID: 30521987
A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.
Sanz DJ, Acedo A, Infante M, Durán M, Pérez-Cabornero L, Esteban-Cardeñosa E, Lastra E, Pagani F, Miner C, Velasco EA. Sanz DJ, et al. Among authors: infante m. Clin Cancer Res. 2010 Mar 15;16(6):1957-67. doi: 10.1158/1078-0432.CCR-09-2564. Epub 2010 Mar 9. Clin Cancer Res. 2010. PMID: 20215541 Free article.
Genetic dissection of the BRCA2 promoter and transcriptional impact of DNA variants.
Fraile-Bethencourt E, Valenzuela-Palomo A, Díez-Gómez B, Infante M, Durán M, Marcos G, Lastra E, Gómez-Barrero S, Velasco EA. Fraile-Bethencourt E, et al. Among authors: infante m. Breast Cancer Res Treat. 2018 Aug;171(1):53-63. doi: 10.1007/s10549-018-4826-7. Epub 2018 May 15. Breast Cancer Res Treat. 2018. PMID: 29766361
Unraveling the molecular effect of a rare missense mutation in BRIP1 associated with inherited breast cancer.
Velázquez C, Esteban-Cardeñosa EM, Lastra E, Abella LE, de la Cruz V, Lobatón CD, Durán M, Infante M. Velázquez C, et al. Among authors: infante m. Mol Carcinog. 2019 Jan;58(1):156-160. doi: 10.1002/mc.22910. Epub 2018 Sep 22. Mol Carcinog. 2019. PMID: 30230034
Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study.
Montalban G, Fraile-Bethencourt E, López-Perolio I, Pérez-Segura P, Infante M, Durán M, Alonso-Cerezo MC, López-Fernández A, Diez O, de la Hoya M, Velasco EA, Gutiérrez-Enríquez S. Montalban G, et al. Among authors: infante m. Hum Mutat. 2018 Sep;39(9):1155-1160. doi: 10.1002/humu.23583. Epub 2018 Jul 13. Hum Mutat. 2018. PMID: 29969168
GALNT12 is not a major contributor of familial colorectal cancer type X.
Seguí N, Pineda M, Navarro M, Lázaro C, Brunet J, Infante M, Durán M, Soto JL, Blanco I, Capellá G, Valle L. Seguí N, et al. Among authors: infante m. Hum Mutat. 2014 Jan;35(1):50-2. doi: 10.1002/humu.22454. Epub 2013 Oct 17. Hum Mutat. 2014. PMID: 24115450
Genotype-phenotype correlation in MMR mutation-positive families with Lynch syndrome.
Pérez-Cabornero L, Infante M, Velasco E, Lastra E, Miner C, Durán M. Pérez-Cabornero L, et al. Among authors: infante m. Int J Colorectal Dis. 2013 Sep;28(9):1195-201. doi: 10.1007/s00384-013-1685-x. Epub 2013 Apr 16. Int J Colorectal Dis. 2013. PMID: 23588873
BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study.
de Juan I, Palanca S, Domenech A, Feliubadaló L, Segura Á, Osorio A, Chirivella I, de la Hoya M, Sánchez AB, Infante M, Tena I, Díez O, Garcia-Casado Z, Vega A, Teulé À, Barroso A, Pérez P, Durán M, Carrasco E, Juan-Fita MJ, Murria R, Llop M, Barragan E, Izquierdo Á, Benítez J, Caldés T, Salas D, Bolufer P. de Juan I, et al. Among authors: infante m. Fam Cancer. 2015 Dec;14(4):505-13. doi: 10.1007/s10689-015-9814-z. Fam Cancer. 2015. PMID: 26026974
Two founder BRCA2 mutations predispose to breast cancer in young women.
Infante M, Durán M, Lasa A, Acedo A, de la Hoya M, Esteban-Cardeñosa E, Sanz DJ, Pérez-Cabornero L, Lastra E, Miner C, Velasco EA. Infante M, et al. Breast Cancer Res Treat. 2010 Jul;122(2):567-71. doi: 10.1007/s10549-009-0661-1. Epub 2009 Dec 1. Breast Cancer Res Treat. 2010. PMID: 19949853 Free article.
The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins.
Infante M, Durán M, Acedo A, Sánchez-Tapia EM, Díez-Gómez B, Barroso A, García-González M, Feliubadaló L, Lasa A, de la Hoya M, Esteban-Cardeñosa E, Díez O, Martínez-Bouzas C, Godino J, Teulé A, Osorio A, Lastra E, González-Sarmiento R, Miner C, Velasco EA. Infante M, et al. Carcinogenesis. 2013 Nov;34(11):2505-11. doi: 10.1093/carcin/bgt272. Epub 2013 Aug 8. Carcinogenesis. 2013. PMID: 23929434 Free article.
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