Fig. 2: Clinicopathological properties of patients and patient tumors bearing BRCA1 or BRCA2 mutations, non-BRCA1/2 gene mutations or WT genes.
a Frequencies of BRCA1 mutations, BRCA2 mutations, other gene mutations (BRCA1/2 WT) in the different groups. Two levels of criteria were used to stratify patients based on the frequency of breast and/or ovarian cancer in family members (see Methods and Supplementary Note 1—HBOC history levels 1 and 2). Among the 211 level-1 and 225 level-2 cases who received BRCA1/2 genetic tests, 50 and 31 patients, respectively, had BRCA1 and/or BRCA2 mutations (BRCA1; 8.5%, BRCA2; 10.1% and both; 0.2% in total 436 patients). One case (HBOC history level-2) had a BRCA1/BRCA2 double mutation. The frequencies of mutations in other genes (BRCA1/2 WT) are shown. b Top left panel: Laterality. Unilateral (n = 1), Unilateral (n ≥ 2) and Bilateral (n ≥ 2) indicate one unilateral occurrence, at least two unilateral occurrences, and at least two bilateral occurrences of primary breast cancer, respectively. The tumors were defined as independent primaries (not local recurrent tumors) when cancer cells were absent in the surgical margin of the first tumor, and also when a difference could be seen in the position of occurrence, histology, hormonal status and HER2 expression of the second tumor, according to previous criteria49. Top right panels: Additional cancer. The frequencies of tissue cancer other than breast cancer are shown including (top right-left) and excluding (top right-right) no additional cancer cases. Middle left panel: Age of onset. Middle right panel: Tumor histology. Bottom left panel: Nuclear grade. Bottom right panel: Tumor subtype. For each panel, the number of tumors for each category is shown on and above the bars. Incl. including, Excl. excluding.
