Table 1. BRCA variant description and clinical characteristics for patients with pathogenic BRCA1/2 mutations.
| ID | Germline (G)/ Somatic (S) | Gene | Change for nucleotides (nt) and amino acids (aa)# | Variant classification (ARUP/ BIC/ BRCA Share/ ClinVar/ LOVD) | Type§ | Age (y) | FIGO stage/grade | FH¶ | |
|---|---|---|---|---|---|---|---|---|---|
| nt | aa | ||||||||
| Recurrent variants (n = 2) | |||||||||
| 1 | G | BRCA2 | c.5164_5165 delAG | p.S1722fs | path/ path/ NA/ path/ path | Ser | 50 | IV/ 3 | No |
| 2 | G | BRCA2 | c.5164_5165 delAG | p.S1722fs | path/ path/ NA/ path/ path | Ser | 57 | I/ 3 | No |
| Unique variants (n = 11) | |||||||||
| 3 | G | BRCA1 | c.2188G>T | p.E730* | path/ path/ NA/ path/ NA | Ser | 53 | IV/ 3 | NA |
| 4 | G | BRCA1 | c.2387C>T | p.T796I | NA/ VUS/ NA/ VUS/ path | Ser | 42 | III/ 3 | No |
| 5 | G | BRCA1 | c.5332+1G>A | p.Œ_splice | path/ VUS/ path/ path/ path | Ser | 48 | III/ 3 | No |
| 6 | G | BRCA1 | c.3858_3861 delTGAG | p.S1286fs | path/ path/ NA/ path/ path | Ser | 56 | III/ 3 | NA |
| 6 | S | BRCA2 | c.8488-1G>A | p.Œ_splice | path/ NA/ NA/ VUS/ path | Ser | 56 | III /3 | NA |
| 7 | G | BRCA2 | c.2339C>G | p.S780* | NA/ NA/ path/ NA/ NA | Ser | 71 | II/ 3 | No |
| 8 | G | BRCA2 | c.773_774 delAA | p.E260fs | NA/ NA/ NA/ NA/ NA | Ser | 69 | II/ 3 | NA |
| 9 | S | BRCA1 | c.726delT | p.S242fs | NA/ NA/ NA/ NA/ NA | Ser | 78 | III/ 3 | NA |
| 10 | S | BRCA1 | c.2964delA | p.F989fs | NA/ NA/ NA/ NA/ NA | Ser | 63 | III/ 3 | No |
| 11 | S | BRCA1 | c.5211_5212 delAG | p.G1738fs | NA/ NA/ NA/ NA/ NA | Ser | 49 | III/ 3 | No |
| 12 | S | BRCA2 | c.4351delG | p.D1451fs | NA/ NA/ NA/ NA/ NA | Ser | 65 | III/ 3 | No |
#HGVSp - the Human Genome Variation Society (HGVS) protein sequence name. The Annotation is based on the BRCA1 transcript ENSG00000012048 (NM_007294) and the BRCA2 transcriptENSG00000139618 (NM_000059). §Histological subtype; ser = Serous. ¶ Family history (FH) refers to a positive history of breast and/or ovarian cancer in the first- and second-degree relatives.
Cases in bold letter are novel mutations.
Databases: BIC (Breast Cancer Information Core, http://research.nhgri.nih.gov/bic/), ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/) database, LOVD (Leiden Open Variation Database, http://www.lovd.nl/3.0/home), ARUP (http://arup.utah.edu/database/BRCA/) database and BRCA Share (http://www.umd.be/BRCA1/) database
Abbreviations: NA, not applicable; path, pathogenic; VUS, variant of uncertain significance; y, years.