Table 1.

Loss of heterozygosity from the index family

Sample IDDescriptionGermline BRCA1Taqman resultInterpretation
S2504Cell lineWT/WTA/ANo LOH
S2366Tumor (breast)WT/WTA/ANo LOH
Ego 1LymphoblastsWT/p.Val1736AlaA/GNo LOH
Ego 10LymphoblastsWT/p.Val1736AlaA/GNo LOH
Ego 1Tumor (Breast)WT/p.Val1736AlaG/GLOH at WT
Ego 9Tumor (Ovarian)WT/p.Val1736AlaG/GLOH at WT
Ego 28Tumor (Ovarian)p.2576delC/p.Val1736AlaA/GNo LOH

NOTE: Ovarian/primary peritoneal cancer tumor blocks from Family A egos 1 and 9 showed that LOH had occurred at the wild-type BRCA1 allele with retention of the p.Val1736Ala allele. ā€œAā€ at position 5207 represents the wild-type allele and ā€œGā€ at position 5207 represents the Val1736Ala allele. Conversely, in ego 28, who carried germline BRCA1 2576delC and p.Val1736Ala alterations in trans, the ovarian tumor did not display LOH at either allele.

Abbreviation: LOH, loss of heterozygosity; WT, wild type.