Loss of heterozygosity from the index family
| Sample ID | Description | Germline BRCA1 | Taqman result | Interpretation |
|---|---|---|---|---|
| S2504 | Cell line | WT/WT | A/A | No LOH |
| S2366 | Tumor (breast) | WT/WT | A/A | No LOH |
| Ego 1 | Lymphoblasts | WT/p.Val1736Ala | A/G | No LOH |
| Ego 10 | Lymphoblasts | WT/p.Val1736Ala | A/G | No LOH |
| Ego 1 | Tumor (Breast) | WT/p.Val1736Ala | G/G | LOH at WT |
| Ego 9 | Tumor (Ovarian) | WT/p.Val1736Ala | G/G | LOH at WT |
| Ego 28 | Tumor (Ovarian) | p.2576delC/p.Val1736Ala | A/G | No 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. “A” at position 5207 represents the wild-type allele and “G” 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.