World Journal of Oncology, ISSN 1920-4531 print, 1920-454X online, Open Access
Article copyright, the authors; Journal compilation copyright, World J Oncol and Elmer Press Inc
Journal website https://www.wjon.org

Original Article

Volume 15, Number 5, October 2024, pages 777-783


Multi-Gene Panel Testing for Hereditary Cancer Predisposition Among Patients Sixty-Five Years and Above Diagnosed With Breast Cancer

Figures

Figure 1.
Figure 1. Results of germline genetic testing. One patient in the expanded-panel testing had increased risk allele (APC). Two carriers of autosomal recessive mutations were excluded. P/L: pathogenic/likely pathogenic; VUS: variants of uncertain significance.
Figure 2.
Figure 2. Pathogenic/likely pathogenic variants among all cohort.

Tables

Table 1. Patients’ Characteristics (n = 204)
 
CharacteristicsNumber%
aFirst, second or third-degree. ER: estrogen receptor; PR: progesterone receptor; HER2: human epidermal growth factor receptor 2.
Age at diagnosis (years)
  Median (range)70.5
  65 - 7010250.0%
  71 - 755727.9%
  > 754522.1%
Stage
  Early-stage18892.2%
  Advanced-stage167.8%
Hormonal status
  ER-positive15575.9%
  PR-positive14872.5%
HER2 status
  HER2-positive3115.2%
  HER2-negative16580.9%
  Unknown83.9%
Triple-negative
  Yes3316.2%
  No17183.8%
Positive family historya
  Breast14370.1%
  Ovarian, pancreas, high-grade prostate3416.7%
Nationality
  Jordanians19294.1%
  Non-Jordanians125.9%

 

Table 2. Rates of Positive Pathogenic Variants by Indication
 
VariableTotalPathogenic/likely pathogenic mutations
All variantsBRCA1/2Non-BRCA1/2
n (%)P-valuen (%)P-valuen (%)P-value
Age at diagnosis (years)0.180.230.29
  ≤ 701029 (8.8%)3 (2.9%)6 (5.8%)
  > 7010213 (12.7%)5 (4.9%)8 (7.8%)
Triple-negative disease0.370.240.33
  Yes333 (9.1%)2 (6.1%)1 (3.0%)
  No17119 (11.1%)11 (6.4%)8 (4.7 %)
≥ close blood relative with breast cancer diagnosed at age ≤ 50 years0.470.170.21
  Yes11012 (10.9%)3 (2.7%)9 (8.2%)
  No9410 (10.6%)5 (5.3%)5 (5.3%)
≥ 1 close blood relative with: Epithelial ovarian cancer at any age; Exocrine pancreatic cancer at any age; Metastatic prostate cancer at any age0.180.240.29
  Yes335 (15.2%)2 (6.1%)3 (9.1%)
  No17117 (9.9%)6 (3.5%)11 (6.4%)
≥ 2 close relatives with breast cancer diagnosed at any age0.380.390.27
  Yes8610 (11.6%)3 (3.5%)7 (8.1%)
  No11812 (10.2%)5 (4.2%)7 (5.9%)
More than one primary breast cancers, first diagnosed before age of 65 years0.360.230.45
  Yes131 (7.7%)01 (7.7%)
  No19121 (10.9%)8 (4.2%)13 (6.8%)
Diagnosed at any age with a close male relative with breast cancer at any age0.240.340.29
  Yes4000
  No20022 (11%)8 (4%)14 (7%)
All patients20422 (10.8%)8 (3.9%)14 (6.9%)