José Ignacio Arias Pérez
A5064345544- BRCA gene mutations in cancer
- Genetic Associations and Epidemiology
- Estrogen and related hormone effects
- HER2/EGFR in Cancer Research
- Nutrition, Genetics, and Disease
- Cytokine Signaling Pathways and Interactions
- Genomics and Chromatin Dynamics
- Genetic factors in colorectal cancer
- Cancer Genomics and Diagnostics
- Cancer Risks and Factors
- Breast Cancer Treatment Studies
- Molecular Biology Techniques and Applications
- RNA and protein synthesis mechanisms
- Gene expression and cancer classification
- DNA Repair Mechanisms
- Cancer, Lipids, and Metabolism
- Genomic variations and chromosomal abnormalities
- RNA modifications and cancer
- Thyroid Cancer Diagnosis and Treatment
- Epigenetics and DNA Methylation
- Cancer-related molecular mechanisms research
- Parathyroid Disorders and Treatments
- Wnt/β-catenin signaling in development and cancer
- Synthesis and Characterization of Heterocyclic Compounds
- Cancer-related Molecular Pathways
Hospital de Sant Pau
2015-2023
Cancer Research Center
2010-2021
University of Manchester
2021
St Mary's Hospital
2021
Edinburgh Cancer Research
2021
Hospital Monte Naranco
2010-2019
University Hospital Heidelberg
2012-2015
University Medical Center Hamburg-Eppendorf
2012-2015
Universität Hamburg
2012-2015
Heidelberg University
2012-2015
Previous studies have suggested that breast cancer risk factors are associated with estrogen receptor (ER) and progesterone (PR) expression status of the tumors.
Genetic variations, such as single nucleotide polymorphisms (SNPs) in microRNAs (miRNA) or the miRNA binding sites may affect dependent gene expression regulation, which has been implicated various cancers, including breast cancer, and alter individual susceptibility to cancer. We investigated associations between related SNPs cancer risk. First we evaluated 2,196 a case-control study combining nine genome wide association studies (GWAS). Second, further 42 with suggestive evidence for using...
Data for multiple common susceptibility alleles breast cancer may be combined to identify women at different levels of risk. Such stratification could guide preventive and screening strategies. However, empirical evidence genetic risk is lacking. We investigated the value using 77 cancer-associated single nucleotide polymorphisms (SNPs) stratification, in a study 33 673 cases 381 control European origin. tested all possible pair-wise multiplicative interactions constructed 77-SNP polygenic...
Observational epidemiological studies have shown that high body mass index (BMI) is associated with a reduced risk of breast cancer in premenopausal women but an increased postmenopausal women. It unclear whether this association mediated through shared genetic or environmental factors.
The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some these are with breast risk as high those rare BRCA2 mutations. We aimed the relative risks specific variants via a multicentre case-control study.
Breast cancers demonstrate substantial biological, clinical and etiological heterogeneity. We investigated breast cancer risk associations of eight susceptibility loci identified in GWAS two putative candidate genes relation to specific tumor subtypes. Subtypes were defined by five markers (ER, PR, HER2, CK5/6, EGFR) other pathological features. Analyses included up 30 040 invasive cases 53 692 controls from 31 studies within the Cancer Association Consortium. confirmed previous reports...
Abstract The 19p13.1 breast cancer susceptibility locus is a modifier of risk in BRCA1 mutation carriers and also associated with the ovarian cancer. Here, we investigated variation subtypes, defined by estrogen receptor (ER), progesterone (PR), human epidermal growth factor receptor-2 (HER2) status, using 48,869 cases 49,787 controls from Breast Cancer Association Consortium (BCAC). Variants were not overall or ER-positive but significantly ER-negative [rs8170 OR, 1.10; 95% confidence...
Abstract Introduction Several common breast cancer genetic susceptibility variants have recently been identified. We aimed to determine how these combine with a subset of other known risk factors influence in white women European ancestry using case-control studies participating the Breast Cancer Association Consortium. Methods evaluated two-way interactions between each age at menarche, ever having had live birth, number births, first birth and body mass index (BMI) 12 single nucleotide...
Recent genome-wide association studies identified 11 single nucleotide polymorphisms (SNPs) associated with breast cancer (BC) risk. We investigated these and 62 other SNPs for their prognostic relevance. Confirmed BC risk rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) rs10941679 (5p12) were genotyped 25 853 patients the available follow-up; SNPs,...
Genome-wide association studies (GWASs) have revealed SNP rs889312 on 5q11.2 to be associated with breast cancer risk in women of European ancestry. In an attempt identify the biologically relevant variants, we analyzed 909 genetic variants across 103,991 individuals and control from 52 Breast Cancer Association Consortium. Multiple logistic regression analyses identified three independent signals: strongest associations were 15 correlated (iCHAV1), where minor allele best candidate,...
Candidate variant association studies have been largely unsuccessful in identifying common breast cancer susceptibility variants, although most underpowered to detect associations of a realistic magnitude. We assessed 41 non-synonymous single-nucleotide polymorphisms (nsSNPs) for which evidence with risk had previously reported. Case-control data were combined from 38 white European women (46 450 cases and 42 600 controls) analyzed using unconditional logistic regression. Strong was observed...
Abstract Cholesterol mediates its proliferative and metastatic effects via the metabolite 27-hydroxycholesterol (27-HC), at least in breast endometrial cancer. We determined serum lipoprotein profile, intratumoral cholesterol 27-HC levels a cohort of patients with well-differentiated papillary thyroid carcinoma (PTC; low/intermediate high risk), advanced cancers (poorly differentiated, PDTC anaplastic carcinoma, ATC) benign tumors, as well expression genes involved metabolism. investigated...
E-cadherin (CDH1) is a putative tumor suppressor gene implicated in breast carcinogenesis. Yet, whether risk factors or survival differ by expression unclear. We evaluated immunohistochemistry using tissue microarrays of 5,933 female invasive cancers from 12 studies the Breast Cancer Consortium. H-scores were calculated and case-case odds ratios (OR) 95% confidence intervals (CIs) estimated logistic regression. Survival analyses performed Cox regression models. All stratified estrogen...
Abstract Introduction We have previously shown that a tag single nucleotide polymorphism (rs10235235), which maps to the CYP3A locus (7q22.1), was associated with reduction in premenopausal urinary estrone glucuronide levels and modest risk of breast cancer women age ≤50 years. Methods further investigated association rs10235235 large case control study 47,346 cases 47,570 controls from 52 studies participating Breast Cancer Association Consortium. Genotyping conducted using custom Illumina...
Previous studies have suggested that polymorphisms in CASP8 on chromosome 2 are associated with breast cancer risk. To clarify the role of susceptibility, we carried out dense genotyping this region Breast Cancer Association Consortium (BCAC). Single-nucleotide (SNPs) spanning a 1 Mb around were genotyped 46 450 cases and 42 600 controls European origin from 41 participating BCAC as part custom array experiment (iCOGS). Missing genotypes SNPs imputed and, after quality exclusions, 501 typed...
Invasive lobular breast cancer (ILC) accounts for 10–15% of all invasive carcinomas. It is generally ER positive (ER+) and often associated with carcinoma in situ (LCIS). Genome-wide association studies have identified more than 70 common polymorphisms that predispose to cancer, but these included predominantly ductal (IDC) To identify novel ILC LCIS, we pooled data from 6,023 cases (5,622 ILC, 401 pure LCIS) 34,271 controls 36 genotyped using the iCOGS chip. Six SNPs most strongly ILC/LCIS...
We recently identified a novel susceptibility variant, rs865686, for estrogen-receptor positive breast cancer at 9q31.2. Here, we report fine-mapping analysis of the 9q31.2 locus using 43 160 cases and 42 600 controls European ancestry ascertained from 52 studies further 5795 6624 Asian nine studies. Single nucleotide polymorphism (SNP) rs676256 was most strongly associated with risk in Europeans (odds ratios [OR] = 0.90 [0.88–0.92]; P-value 1.58 × 10−25). This SNP is one cluster highly...