Table 3 Germline mutations identified in PABC cases
From: Germline mutations in a clinic-based series of pregnancy associated breast cancer patients
ID | Mutation (cDNA) | Mutation (protein) | Chromosome-Exon | Clinical Significance | Family History |
|---|---|---|---|---|---|
#553 | BRCA1 c.5328delC | p.Thr1777fs | chr17 exon 21 | Pathogenic | 2nd degree relative: Vulvar cancer |
#964 | BRCA1 c.3700_3704delGTAAA | p.Val1234Glnfs | chr17- exon 11 | Pathogenic | No |
#749 | BRCA1 c.3700_3704delGTAAA | p.Val1234Glnfs | chr17- exon 11 | Pathogenic | 2nd degree relatives: Breast, Endometrial cancer |
#750 | BRCA1 c.5212G > A | p.Gly1738Arg | chr17- exon 20 | Pathogenic | 2nd degree relatives: Breast, Ovarian cancer |
#2754 | BRCA1 c.5251C > T | p.Arg1751X | chr17- exon 20 | Pathogenic | 2nd degree relatives: Breast, Prostate cancer, BCC |
#2740 | BRCA1 g.169527_180579del11052 | p.Gly1803_Tyr1863del11052 | chr17- exons 23,24 | Pathogenic | 2nd degree relatives: Endometrial, Lung cancer |
#1927 | CHEK2 c.1100delC | p.Thr367MetfsX1 | chr22-exon10 | Pathogenic | No |
#3227 | BRCA2 c.8386C > T | p.Pro2796Ser | chr13 exon 18 | VUS | No |
#1045 | CHEK2 c.1175C > T | p.Ala392Val | chr22- exon 20 | VUS | No |
#2122 | BRIP1 c.2285G > A | p.Arg762His | chr17- exon 1 | VUS | 1st degree relative: Prostate cancer 2nd degree relative: Breast cancer |