Germline Structural Variations in Cancer Predisposition Genes

Germline mutations in predisposition genes in pediatric cancer

Germline Mutations in Predisposition Genes in Pediatric Cancer.

BACKGROUND The prevalence and spectrum of predisposing mutations among children and adolescents with cancer are largely unknown. Knowledge of such mutations may improve the understanding of tumorigenesis, direct patient care, and enable genetic counseling of patients and families. METHODS In 1120 patients younger than 20 years of age, we sequenced the whole genomes (in 595 patients), whole ex...

Profiling of genetic variations in inflammation pathway genes in relation to bladder cancer predisposition.

PURPOSE Compelling evidence has indicated that inflammation plays an important role in cancer development. We sought to test the hypothesis that common sequence variants in the inflammation pathway modulate bladder cancer risk. EXPERIMENTAL DESIGN We genotyped 59 potentially functional single nucleotide polymorphisms from 35 candidate inflammation genes in a case-control study including 635 C...

Mainstreaming genetic testing of cancer predisposition genes.

Referrals are invited from consultants in secondary and/or tertiary care for patients in whom the diagnosis of EDS is suspected but not confirmed for one of the following reasons: > Diagnostic criteria according to Villefranche classification are not met > Diagnostic testing does not confirm the diagnosis suspected > Diagnostic criteria of more than one type of EDS are identified > There are si...

Germline copy number variations in BRCA1-associated ovarian cancer patients.

We investigated characteristics of germline copy number variations (CNV) in BRCA1-associated ovarian cancer patients by comparing them to CNVs present in sporadic ovarian cancer patients. Germline CNVs in 51 BRCA1-associated, 33 sporadic ovarian cancer patients, and 47 healthy women were analyzed by both signal intensity and genotyping data using the Affymetrix Genome-Wide Human SNP Array 6.0. ...