Pathogenic variants in BRCA1 or BRCA2 are identified in∼ 20% of families with multiple
individuals affected by early-onset breast and/or ovarian cancer. Extensive searches for …

Heterozygous whole gene deletions (WGDs), and intragenic microdeletions, account for a
significant proportion of mutations underlying cancer predisposition syndromes. We …

Gorlin syndrome is an autosomal dominant disorder characterized by multiple early-onset
basal cell carcinoma, odontogenic keratocysts and skeletal abnormalities. It is caused by …

Background While the likelihood of identifying constitutional breast cancer-associated
BRCA1, BRCA2 and TP53 pathogenic variants (PVs) increases with earlier diagnosis age …

Purpose Screening with low-dose computed tomography reduces lung cancer (LC)
mortality. Risk prediction models used for screening selection do not include genetic …

Purpose To investigate the contribution of PALB2 pathogenic gene variants (PGVs,
PALB2_PGV) and the CHEK2 c. 1100delC (CHEK2_1100delC) PGV to familial breast and …

Gorlin syndrome is an autosomal dominant disorder, characterized by multiple early-onset
basal cell carcinomas (BCCs) and jaw keratocysts. Through association studies in cohorts of …

Purpose: Lobular breast cancer (LBC) accounts for~ 15% of breast cancer. Here, we studied
the frequency of pathogenic germline variants (PGVs) in an extended panel of genes in …

Background Pathogenic variants in BRCA1 or BRCA2 are identified in~ 20% of families with
multiple individuals with early-onset breast/ovarian cancer. Extensive searches for …

Biallelic variants in RCC1 result in fever associated axonal neuropathy with
encephalopathy — Research Explorer The University of Manchester Skip to main …