Table 1 Results of the Geneva HRD assay
From: BRCA2 germline mutation carrier with five malignancies: a case report
Tumour, year of diagnosis | HRD Status (nLST) | Copy number | Other relevant alterations | |||
|---|---|---|---|---|---|---|
BRCA2 | APC | BRIP1 | ATR | |||
Well-differentiated liposarcoma (ALT), 2006 | Neg. (1) | No alteration | No alteration | No alteration | No alteration | Focal amplification of 12q14-15 (MDM2, CDK4) [15] |
Clear cell renal cell carcinoma, 2008 | Neg. (0) | 4 copies | 5–6 copies (on a CN breakpoint) | 4 copies | 4 copies | LOH of 3p arm (VHL, PBRM1, BAP1) [16], 5 copies of MDM4 Tetraploid tumour |
Poorly differentiated invasive ductal breast carcinoma, 2010 | Pos. (30.5) | LOH (2 copies) | 1 copy | 5/6 copies | LOH (3 copies) | Heterozygous loss of TP53 [17], 4 copies of MDM4, triploid tumour |
Therapy-associated myeloproliferative neoplasia, 2018 | Neg. (0) | No alteration | No alteration | No alteration | No alteration | LOH of 9p arm (JAK2) [18] |
Breast carcinoma (NST), 2021 | Pos. (25) | LOH (1 copy) | No alteration | 4 copies | 2.5 copies | Heterozygous loss of TP53 |