• Loss of the wild-type allele was detected in 48% of tumours from GPV carriers, mostly in genes definitively associated with sarcoma risk. (bvsalud.org)
  • Recently, BRCA2 carriers were shown to have a higher risk for developing CNS metastases. (bvsalud.org)
  • However, the patterns of recurrence and metastases of BRCA2 carriers with TNBC are unknown. (bvsalud.org)
  • Bone or CNS metastases were observed in 40% and 60% of BRCA2 PV carriers (p = 0.155), respectively. (bvsalud.org)
  • If two carriers of the same disease-causing gene have children, each pregnancy has a 25 percent chance of having the disease (because of a 25 percent chance of inheriting both the mother's and the father's mutated copies of the gene), a 50 percent chance of being a carrier and a 25 percent chance of not inheriting the mutation at all. (healthywomen.org)
  • METHODS: Germline DNA from 177 children, adolescents and young adults with soft tissue or bone sarcomas was tested using multigene panels with 113 or 126 cancer predisposing genes (CPGs) to describe the prevalence of germline pathogenic/likely pathogenic variants (GPVs). (bvsalud.org)
  • A cohort of 84 HBOC individuals (negative for BRCA1/2-founder mutations and pre-screened for the most common breast cancer genes) and 36 healthy controls were analysed with a genome-wide SNP array. (nih.gov)
  • We identified PV in BRCA1/2 genes in 21% (82/388), being 17.7% (69/388) in BRCA1 and only 3.3% (13/388) in BRCA2. (bvsalud.org)
  • METHODS: Germline DNA from 177 children, adolescents and young adults with soft tissue or bone sarcomas was tested using multigene panels with 113 or 126 cancer predisposing genes (CPGs) to describe the prevalence of germline pathogenic/likely pathogenic variants (GPVs). (bvsalud.org)
  • APOBEC mutational signature was detected only in Silva pattern C tumors (5/17), and pathogenic PIK3CA changes were detected only in destructively invasive HPVA (patterns B and C). When cases were grouped as low-risk (pattern A and pattern B without LVI) and high-risk (pattern B with LVI and pattern C), high-risk tumors were enriched in mutations in PIK3CA, ATRX, and ERBB2. (stanford.edu)
  • We aimed to identify germline copy number variations (CNVs) contributing to HBOC susceptibility in the Finnish population. (nih.gov)
  • Inherited factors predisposing individuals to breast and ovarian cancer are largely unidentified in a majority of families with hereditary breast and ovarian cancer (HBOC). (nih.gov)
  • Excluding some infrequent hereditary cancer syndromes, the extent and clinical significance of mutations in other cancer predisposing genes (CPGs) are not known. (bvsalud.org)
  • Both a novel intronic deletion in the CSMD1 tumor suppressor gene and a homozygous intergenic deletion at 5q15 were identified in 1 of 101 (1.0%) HBOC individuals but were very rare (1 of 436, 0.2% and 1 of 899, 0.1%, respectively) in healthy controls suggesting that these variants confer disease susceptibility. (nih.gov)
  • CNV-affecting genes were further studied by Gene Ontology term enrichment, pathway analyses, and database searches to reveal genes with potential for breast and ovarian cancer predisposition. (nih.gov)