Table 1.
Clinical characteristics of patients with LBC with non-synonymous variants
Non-synonymous variant | Criteria 1 or 2 | BRCA1/2 mutation status | Age at diagnosis | Family history (age at diagnosis) |
c.8C→G, p.P3R | 1 | Negative | 38 years | Maternal aunt=breast cancer (46 years) Maternal aunt=breast cancer (67 years) Maternal cousin=breast cancer (42 years) Mother=retroperitoneal tumour Paternal grandmother=breast cancer |
c.88 C→A, p.P30T (two patients) | 1 | Unknown | 40 years | |
2 | Negative | 47 years | Paternal aunt=breast cancer (40 years) Female paternal cousin=breast cancer (40 years) Male paternal cousin=breast cancer (50 years) Female paternal cousin=breast cancer (47 years) |
|
c.1223C→T, p.A408V | 1 | Negative | 44 years | No cancers |
c.1297G→A, p.D433N | 1 | Negative | 41 years | Paternal grandmother=intestinal cancer Maternal grandmother=lung cancer Maternal grandfather=mouth cancer |
c.1813A→G, p.R605G | 1 | Unknown | 42 years | Mother=breast cancer (60 years) Maternal uncle=pancreatic cancer (64 years) |
c. 2494G→A, p.V832M (known missense mutation in HDGC) |
1 | Negative | 43 years | Sister=ductal breast cancer Maternal aunt=breast cancer Paternal uncle=leukaemia Paternal grandmother=colon cancer |
Clinical history of patients with LBC in whom potentially pathogenic variants were identified. There was no known family history of gastric cancer in these patients.