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Table 1 Summary of BRCA1 and BRCA2 variants identified in Sri Lankan families with inherited cancer syndromes

From: Functional evaluation of five BRCA2 unclassified variants identified in a Sri Lankan cohort with inherited cancer syndromes using a mouse embryonic stem cell-based assay

VariantAmino acid changeClinVar interpretationCancer types in index casesCancer types in family members
BRCA1:c.1575delp.Gln526LysfsPathogenicBreastBreast, ovarian, endometrial
BRCA1:c.3392A>Gp.Asp1131GlyVUSBreastBreast
BRCA1:c.4120_4121delAGp.Ser1374TerfsPathogenicBreastBreast, thyroid
BRCA1:c.5289delGp.Leu1764TerfsPathogenicBreast, ovaryBreast, endometrial, ovarian, thyroid, hepatic, esophageal
BRCA1:c.68_69delAGp.Glu23ValfsPathogenicOvaryBreast
BRCA1:c.1881_1884delp.Ser628fsPathogenicBreastBreast, colorectal
BRCA2:c.784G>Ap.Ala262ThrVUSBreast and ovarianBreast, thyroid, and endometrial
BRCA2:c.2353A>Gp.Ile785ValVUSProstateColorectal and thyroid
BRCA2:c.2488A>Gp.Asn830AspVUSBreastOvarian
BRCA2:c. 6231G>Cp.Lys2077AsnLikely Benign/VUSBreastBreast
BRCA2:c.9117G>Ap.Pro3039=PathogenicBreastBreast, thyroid, and endometrial
BRCA2:c.5727_5728insGp.Asn1910fsPathogenicOvaryOvarian, liver, colon, prostate
BRCA2:c.1296_1297delGAp.Asn433GlnfsPathogenicBreast, fallopian tubeBreast, liver, endometrial, colorectal, ovarian, esophageal
BRCA2:c.5576_5579delTTAAp.Ile1859LysfsPathogenicBreastBreast, endometrial, gastric
BRCA2:c.5621_5624delTTAAp.Ile1874ArgfsPathogenicBreastBreast, ovarian