VUS: variant of uncertain significance; nd: non described. aAccording to reference sequences NG_005905.2 or NG_012772.1, except for BRCA1 exon1-13del, since it does not extend far enough upstream to d
BackgroundFamilial Pancreatic Cancer (FPC) presents a notable risk, with 3–10% of pancreatic adenocarcinoma cases having a family history. Studies link FPC to syndromes like HBOC, suggesting BRCA1/BRC
BIC, Breast Cancer Information Core; IARC, International Agency for Research on Cancer; HR, hormonal receptor status; (a), mutation identified in Brazilian patients reported by others; ND: not determi
The HELIC study has been whole genome sequencing individuals from 2 Greek isolated populations at 1x depth. The genotype calling process crucially involves a VQSR step followed by imputation-based ref