Table 1

Clinical characteristics of patients with LBC with non-synonymous variants

Non-synonymous variantCriteria 1 or 2BRCA1/2 mutation statusAge at diagnosisFamily history (age at diagnosis)
c.8C→G, p.P3R1Negative38 yearsMaternal 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)1Unknown40 years
2Negative47 yearsPaternal 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.A408V1Negative44 yearsNo cancers
c.1297G→A, p.D433N1Negative41 yearsPaternal grandmother=intestinal cancer
Maternal grandmother=lung cancer
Maternal grandfather=mouth cancer
c.1813A→G, p.R605G1Unknown42 yearsMother=breast cancer (60 years)
Maternal uncle=pancreatic cancer (64 years)
c. 2494G→A, p.V832M
(known missense mutation in HDGC)
1Negative43 yearsSister=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.