Background PTEN hamartoma tumour syndrome (PHTS) encompasses several clinical
syndromes with germline mutations in the PTEN tumour suppressor gene, including …

Up to 80% of BRCA1 and BRCA2 genetic variants remain of uncertain clinical significance
(VUSs). Only variants classified as pathogenic or likely pathogenic can guide breast and …

Background BRCA1/2 mutations confer high lifetime risk of breast cancer, although other
factors may modify this risk. Whether height or body mass index (BMI) modifies breast …

Chromosomal abnormalities are found by conventional cytogenetic (CC) analysis in about
50% of myelodysplastic syndromes (MDS) and 70% of acute myeloid leukemias (AML) …

Cowden syndrome (CS) is an inherited autosomal dominant disorder associated with
germline pathogenic variants of the PTEN tumor suppressor gene. Its phenotypical …

Biallelic pathogenic variants in the NTHL1 (Nth like DNA glycosylase 1) gene cause a
recently identified autosomal recessive hereditary cancer syndrome predisposing to …

Introduction Germline BRCA1 or BRCA2 mutations account for 20–30% of familial clustering
of breast cancer. The main indication for BRCA2 screening is currently the family history but …

Background Less than 20% of familial breast cancer patients who undergo genetic testing
for BRCA1 and BRCA2 carry a pathogenic mutation in one of these two genes. The …

Several studies report an increased risk of breast/pancreatic cancer in MMR (DNA mismatch
repair) mutation carriers that has significant consequences on standard cancer screening in …

Familial breast cancers (BCs) account for 10%‐20% of all diagnosed BCs, yet only 20% of
such tumors arise in the context of a germline mutation in known tumor suppressor genes …