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. 2010 Oct 4;48(1):64–68. doi: 10.1136/jmg.2010.079814

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.