Results 101 to 110 of about 44,727 (269)
Double heterozygosity in the BRCA1 and BRCA2 genes in Italian family. [PDF]
, 2013 "Background: Double heterozygosity (DH) is an extremely rare event in which both BRCA1 and BRCA2 are mutated simultaneously in a family. To date, few cases of DH have been reported, especially in Ashkenazi populations. In Italy some cases of DH have been
Gambardella AL +7 more
core +1 more source
Neoplastic Risk in Patients With Klinefelter Syndrome
Andrology, EarlyView.ABSTRACT Background Besides gonadal involvement (hypogonadism, male factor infertility, and testicular hypotrophy), patients with Klinefelter syndrome (KS) may suffer from several extra‐gonadic complications, including neoplastic events. Objective The aim of this review is to summarize all major clinical evidence dealing with the association between KS
Andrea Graziani +4 more
wiley +1 more source
Frontiers in OncologyBRCA genes, including BRCA1 and BRCA2, are tumor suppressor genes that play a crucial role in the HRR pathway for double-strand DNA breaks. Mutations in these genes lead to the loss of function of their respective proteins, resulting in HRD and the ...
Yuting Li +5 more
doaj +1 more source
Nature Communications, 2019 The loss of homologous recombination (HR) genes such as BRCA1 and BRCA2 is deleterious to the survival of normal cells, yet it is tolerated in cancer cells.
Anne Margriet Heijink +6 more
doaj +1 more source
Mutation analysis of BRCA1 and BRCA2 genes in Iranian high risk breast cancer families [PDF]
Background: Telomerase is a ribonucleoprotein enzyme that synthesises telomeres after cell division and maintains chromosomal stability leading to cellular immortalization.
Mehdipour, P. +15 more
core +1 more source
ANZ Journal of Surgery, EarlyView.ABSTRACT Background Early onset colorectal cancer (EoCRC), commonly defined as colorectal cancer diagnosed in people under 50 years of age, is increasing in incidence in Australia and New Zealand. The underlying cause of this remains unclear, despite its growing public health importance.
Tiffany J. Cherry +2 more
wiley +1 more source
Sultan Qaboos University Medical Journal, 2015 Objectives: Missense variants are very commonly detected when screening for mutations in the BRCA1 and BRCA2 genes. Pathogenic mutations in the BRCA1 and BRCA2 genes lead to an increased risk of developing breast, ovarian, prostate and/or pancreatic ...
Clare Brookes +3 more
doaj
Diagnostic Screening Workflow for Mutations in the BRCA1 and BRCA2 Genes
Sultan Qaboos University Medical Journal, 2015 Screening for mutations in large genes is challenging in a molecular diagnostic environment. Sanger-based DNA sequencing methods are largely used; however, massively parallel sequencing (MPS) can accommodate increasing test demands and financial constraints. This study aimed to establish a simple workflow to amplify and screen all coding regions of the
Stella Lai +5 more
openaire +4 more sources
Breast Angiosarcoma: 15‐Years Experience
ANZ Journal of Surgery, EarlyView.ABSTRACT Background Breast angiosarcoma is a rare, aggressive malignancy that can be primary (PAS) or secondary (SAS). This study evaluates the management and outcomes of breast angiosarcoma in a single‐center breast/surgical oncology unit. Methods A retrospective review was conducted on patients with histologically confirmed PAS or SAS who underwent ...
Gaik Si Quah +2 more
wiley +1 more source
Reviewing the characteristics of BRCA and PALB2-related cancers in the precision medicine era
Genetics and Molecular Biology, 2019 Germline mutations in BRCA1 and BRCA2 (BRCA) genes confer high risk of developing cancer, especially breast and ovarian tumors. Since the cloning of these tumor suppressor genes over two decades ago, a significant amount of research has been done.
Gabriel S. Macedo +2 more
doaj +1 more source