Javier Benitez


Country: Spain


  1. Johnson N, Dudbridge F, Orr N, Gibson L, Jones M, Schoemaker M, et al. Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study. Breast Cancer Res. 2014;16:R51 pubmed publisher
    ..These associations are likely mediated via an effect on circulating hormone levels. ..
  2. Pirie A, Guo Q, Kraft P, Canisius S, Eccles D, Rahman N, et al. Common germline polymorphisms associated with breast cancer-specific survival. Breast Cancer Res. 2015;17:58 pubmed publisher
    ..Larger studies from multinational collaborations are necessary to increase the power to detect associations, between common variants and prognosis, at more stringent significance levels. ..
  3. Calvete O, Reyes J, Zuñiga S, Paumard Hernández B, Fernández V, Bujanda L, et al. Exome sequencing identifies ATP4A gene as responsible of an atypical familial type I gastric neuroendocrine tumour. Hum Mol Genet. 2015;24:2914-22 pubmed publisher
    ..Based on the results of this large family, it seems that this atypical form of gastric NET has an earlier age of onset, behaves more aggressively and has atypical clinical traits that differentiated from other studied cases. ..
  4. Blein S, Bardel C, Danjean V, McGuffog L, Healey S, Barrowdale D, et al. An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers. Breast Cancer Res. 2015;17:61 pubmed publisher
    ..This study illustrates how original approaches such as the phylogeny-based method we used can empower classical molecular epidemiological studies aimed at identifying association or risk modification effects. ..
  5. Silvestri V, Barrowdale D, Mulligan A, Neuhausen S, Fox S, Karlan B, et al. Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Res. 2016;18:15 pubmed publisher
    ..e., high histologic grade). These findings could lead to the development of gender-specific risk prediction models and guide clinical strategies appropriate for MBC management. ..
  6. Matamala N, Vargas M, González Cámpora R, Miñambres R, Arias J, Menéndez P, et al. Tumor microRNA expression profiling identifies circulating microRNAs for early breast cancer detection. Clin Chem. 2015;61:1098-106 pubmed publisher
    ..Circulating miRNAs reflect the presence of breast tumors. The identification of deregulated miRNAs in plasma of patients with breast cancer supports the use of circulating miRNAs as a method for early breast cancer detection. ..
  7. Petridis C, Brook M, Shah V, Kohut K, Gorman P, Caneppele M, et al. Genetic predisposition to ductal carcinoma in situ of the breast. Breast Cancer Res. 2016;18:22 pubmed publisher
    ..0x10(-8). In conclusion, this study provides the strongest evidence to date of a shared genetic susceptibility for IDC and DCIS. Studies with larger numbers of DCIS are needed to determine if IDC or DCIS specific loci exist. ..
  8. Calvete O, Herraiz M, Reyes J, Patiño A, Benitez J. A cumulative effect involving malfunction of the PTH1R and ATP4A genes explains a familial gastric neuroendocrine tumor with hypothyroidism and arthritis. Gastric Cancer. 2017;20:998-1003 pubmed publisher
  9. Barroso E, Fernandez L, Milne R, Pita G, Sendagorta E, Floristan U, et al. Genetic analysis of the vitamin D receptor gene in two epithelial cancers: melanoma and breast cancer case-control studies. BMC Cancer. 2008;8:385 pubmed publisher
    ..These associations required confirmation in independent studies. ..