• Publications
  • Influence
Lymphovascular invasion and histologic grade are associated with specific genomic profiles in invasive carcinomas of the breast
Lymphovascular invasion (LVI) and histologic grade are clinical parameters of high prognostic value in breast cancer and indicate the level of tumor aggressiveness. Many studies have focused on theExpand
  • 19
  • 1
An Inherited Small Microdeletion at 15q13.3 in a Patient with Early- Onset Obsessive-Compulsive Disorder
Copy number variations (CNVs) have been previously associated with several different neurodevelopmental psychiatric disorders, such as autism, schizophrenia, and attention deficit hyperactivityExpand
  • 62
  • PDF
Role of rare germline copy number variation in melanoma-prone patients.
AIM This work evaluates a possible causative role for germline copy number variants (CNVs) in melanoma predisposition. PATIENTS & METHODS A total of 41 melanoma-prone Brazilian patients wereExpand
  • 4
Upregulated genes at 2q24 gains as candidate oncogenes in hepatoblastomas.
AIM Cytogenetic data of hepatoblastomas, a rare embryonal tumor of the liver, mostly consist of descriptions of whole-chromosome aneuploidies and large chromosome alterations. High-resolutionExpand
  • 13
Evaluation of a subset of tumor suppressor gene for copy number and epigenitic changes in pleomorphic adenoma and carcinoma ex-pleomorphic adenoma carcinogenesis.
OBJECTIVE The progression of pleomorphic adenoma (PA) to carcinoma ex-pleomorphic adenoma (CXPA) encompasses several genomic alterations involving complex pathways. Tumor suppressor genes seem toExpand
  • 3
Association of melanoma with intraepithelial neoplasia of the pancreas in three patients.
Melanoma and pancreatic cancer are two low frequency types of cancer. In this study, three patients who developed both melanoma and intraepithelial neoplasia of the pancreas were tested for CDKN2AExpand
  • 2
Genome-wide profiling of copy number alterations in triple-negative breast cancer identifies a region at 19p13 associated with lymph node metastasis
Background The acquisition of somatic alterations (point mutations/ chromosomal rearrangements) underlies the hallmarks of cancer, generating genetic diversity that drives tumorigenesis. Advances inExpand
  • 1
Abstract A20: Identification of new promising germline variants in melanoma-prone patients
Background: Melanoma is a highly aggressive skin cancer; approximately 10% of melanomas are caused by germline mutations, mainly affecting the p16 isoform of the CDKN2A gene (responsible for up toExpand
Somatic copy number alterations in pleomorphic adenoma and recurrent pleomorphic adenoma.
OBJECTIVE As the genetic changes in recurrent pleomorphic adenoma (RPA) have not yet been investigated, the aim of this study was to assess the genomic profile of somatic copy number alteration inExpand