Table 3. Clinicopathological characteristics of the 7 patients with metachronous breast and ovarian malignancies harboring pathogenic BRCA1/2 mutations.
| ID | Histology | Age (yr)* | FIGO stage | Grade | Gene | Exon | Nucleotide change | Amino acid change | Mutation type | FH† | FU time (yr) | Time breast to ov‡ (yr) | Breast cancer receptors | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ER | PR | HER2 | |||||||||||||
| D011 | Serous | 32.7 | 3 | 3 | BRCA1 | 1 | c.5199G>A | p.Trp1733Ter | Nonsense | Breast, esophageal, stomach | 14.0 | 11.8 | − | − | − |
| D005 | Serous | 55.8 | 3 | 3 | BRCA1 | 10 | c.1361delG | p.Ser454fs | Frameshift | Breast, ovary | 1.6 | −0.3 | + | + | + |
| D013 | Serous | 53.4 | 3 | 3 | BRCA2 | 11 | c.6484_6485delAA | p.Lys2162fs | Frameshift | Prostate, colorectal | 6.6 | −3.9 | + | + | − |
| D009 | Serous | 41.6 | 2 | 3 | BRCA1 | 10 | c.928C>T | p.Gln310 Ter | Nonsense | Breast, stomach | 17.4 | −1.2 | − | − | + |
| D008 | Serous | 43.9 | 1 | 3 | BRCA2 | 11 | c.5164_5165delAG | p.Ser1722fs | Frameshift | Breast, colorectal | 18.5 | 13.4 | − | − | − |
| D014 | Serous | 48.5 | 3 | 3 | BRCA1 | 6 | c.T303A | p.Tyr101Ter | Nonsense | NA | 4.5 | 1.0 | − | − | + |
| D020 | Serous | 39.3 | 3 | 3 | BRCA1 | 10 | c.3083delG | p.Arg1028Leufs*19 | Frameshift | NA | 7.8 | −7.7 | + | − | − |
FIGO, International Federation of Gynecology and Obstetrics; FH, family history; FU, follow-up; ov, ovary; ER, estrogen receptor; PR, progesterone receptor; NA, not applicable.
*Age at diagnosis of the initial cancer; †Family history of cancer was considered positive when malignancies were present in first- and second-degree relatives. Parents, siblings, and children were considered as first-degree relatives, whereas grandparents, aunts, uncles, nieces, nephews, grandchildren, and half-siblings were regarded as second-degree relatives; ‡Time from the diagnosis of breast cancer to the occurrence of ovarian cancer.