Table 4.
Total newly identified pathogenic/likely pathogenic (P/LP) variants.
| Gene | Variant | Reference Sequence c | Diagnosis Year | Diagnosis Age |
|---|---|---|---|---|
| ATM | p.M1? (c.3G>A) | NM_000051.4 | 2006 | 65 |
| APC a,b | p.I1307K (c.3920T>A) | NM_000038.6 | 2018 | 34 |
| BARD1 b | c.2300_2301delTG | NM_000465.2 | 2013 | 61 |
| BRCA1 | c.3756_3759delGTCT | NM_007294.4 | 2013 | 54 |
| BRCA1 | p.V1736A (c.5207T>C) | NM_007294.4 | 2006 | 48 |
| BRCA2 | c.5073dupA | NM_000059.4 | 2010 | 57 |
| BRCA2 | c.3847_3848delGT | NM_000059.4 | 2011 | 60 |
| CHEK2 | p.H143Y (c.427C>T) | NM_007194.4 | 2007 | 55 |
| DICER1 | p.R688* (c.2062C>T) | NM_177438.3 | 2013 | 23 |
| HOXB13 a,b | p.G84E (c.251G>A) | NM_006361.6 | 2007 | 47 |
| MITF a,b | p.E318K (c.952G>A) | NM_000248.3 | 2007 | 51 |
| MUTYH a,b | p.G396D (c.1187G>A) | NM_001128425.1 | 2006 | 49 |
| MUTYH a,b | p.G396D (c.1187G>A) | NM_001128425.1 | 2013 | 68 |
| PMS2 | c.1040delA | NM_000535.7 | 2013 | 52 |
| RAD51D | c.896_*505del761insT | NM_002878.4 | 2006 | 83 |
| SDHB a,b | p.L111V (c.331C>G) | NM_003000.3 | 2009 | 62 |
a Genetic test result not related to personal or family cancer history; b gene not historically associated with ovarian cancer risk; c matched annotation from the National Center for Biotechnology Information (NCBI) and European Molecular Biology Laboratory-European Bioinformatics Institute (EMBL-EBI) (MANE) reference sequence, version 1.3.