Resources

Clinical testing with chromosomal microarray (CMA) is most commonly undertaken for clinical indications such as intellectual disability, dysmorphic features and/or congenital abnormalities.

Our study aimed to establish 'real-world' performance and cost-effectiveness of ovarian cancer (OC) surveillance in women with pathogenic germline BRCA1/2 variants who defer risk-reducing bilateral salpingo-oophorectomy (RRSO).

The increasing frequency and complexity of cancer genomic profiling represents a challenge for the oncology community.

Constitutional mutations in genes controlling DNA repair, cell-cycle regulation and cell apoptosis can determine an individual's tendency to develop cancer.

The National Institute of health and Care Excellence issued guidelines on familial breast cancer screening in 2004. Such guidelines should be uniformly implemented to ensure that members of the same family with the same level of risk, but living in different areas, have the same access to screening.

DICER1 syndrome is a rare genetic disorder that predisposes to a wide spectrum of tumors.

Variant classifications may change over time, driven by emergence of fresh or contradictory evidence or evolution in weighing or combination of evidence items.

This review describes the clinical features of the major adult-onset genodermatosis-associated hereditary cancer predisposition syndromes.

Germline pathogenic variants (GPVs) in the cancer predisposition genes BRCA1, BRCA2, MLH1, MSH2, MSH6, BRIP1, PALB2, RAD51D and RAD51C are identified in approximately 15% of patients with ovarian cancer (OC).

SDHA pathogenic germline variants (PGVs) are identified in up to 10% of patients with paraganglioma and phaeochromocytoma and up to 30% with wild-type gastrointestinal stromal tumours.

BRCA1-associated protein-1 (BAP1) is a recognised tumour suppressor gene.

Schwannomatosis is a recently delineated inherited condition that has clinical overlap with neurofibromatosis type 2 (NF2).

There is a lack of prognostic and predictive biomarkers in epithelial ovarian carcinoma, and the targeting of oncogenic signaling pathways has had limited impact on patient survival in this highly heterogeneous disease.

DNA replication licensing factors and Aurora kinases play critical roles in maintaining genomic integrity.