Table 1 Summary of BRCA1 and BRCA2 variants identified in Sri Lankan families with inherited cancer syndromes
Variant | Amino acid change | ClinVar interpretation | Cancer types in index cases | Cancer types in family members |
|---|---|---|---|---|
BRCA1:c.1575del | p.Gln526Lysfs | Pathogenic | Breast | Breast, ovarian, endometrial |
BRCA1:c.3392A>G | p.Asp1131Gly | VUS | Breast | Breast |
BRCA1:c.4120_4121delAG | p.Ser1374Terfs | Pathogenic | Breast | Breast, thyroid |
BRCA1:c.5289delG | p.Leu1764Terfs | Pathogenic | Breast, ovary | Breast, endometrial, ovarian, thyroid, hepatic, esophageal |
BRCA1:c.68_69delAG | p.Glu23Valfs | Pathogenic | Ovary | Breast |
BRCA1:c.1881_1884del | p.Ser628fs | Pathogenic | Breast | Breast, colorectal |
BRCA2:c.784G>A | p.Ala262Thr | VUS | Breast and ovarian | Breast, thyroid, and endometrial |
BRCA2:c.2353A>G | p.Ile785Val | VUS | Prostate | Colorectal and thyroid |
BRCA2:c.2488A>G | p.Asn830Asp | VUS | Breast | Ovarian |
BRCA2:c. 6231G>C | p.Lys2077Asn | Likely Benign/VUS | Breast | Breast |
BRCA2:c.9117G>A | p.Pro3039= | Pathogenic | Breast | Breast, thyroid, and endometrial |
BRCA2:c.5727_5728insG | p.Asn1910fs | Pathogenic | Ovary | Ovarian, liver, colon, prostate |
BRCA2:c.1296_1297delGA | p.Asn433Glnfs | Pathogenic | Breast, fallopian tube | Breast, liver, endometrial, colorectal, ovarian, esophageal |
BRCA2:c.5576_5579delTTAA | p.Ile1859Lysfs | Pathogenic | Breast | Breast, endometrial, gastric |
BRCA2:c.5621_5624delTTAA | p.Ile1874Argfs | Pathogenic | Breast | Breast, ovarian |