Table 2

Rates of pathogenic variants by age group, pathology and Manchester Scoring System

Total casesTotal PVs%BRCA1%BRCA2%TP53%BRCA1/BRCA2/
TP53 combined
Other genesGenes
Age <26611829.5%69.8%34.9%711.5%26.2%2ATM; PALB2
26–30*31812739.9%6921.7%3210.1%154.7%36.5%11ATM; BRIP1; CHEK2 (3); PALB2 (3); PTEN; RAD50; RECQL
Total37914538.3%7519.8%359.2%225.8%34.8%13
Receptor status
 TNBC1256148.8%5140.8%64.8%32.4%48.0%1PALB2
 HER2+431227.9%12.3%24.7%818.6%25.6%1RECQL
 ER+/HER2-793038.0%1417.7%810.1%22.5%30.4%6ATM; CHEK2; PALB2 (2); PTEN; RAD50
 DCIS261142.3%27.7%27.7%623.1%38.5%1PALB2
 ER+/no HER2 test251560.0%28.0%1040.0%14.0%52.0%2ATM; BRIP1
 No receptors811619.8%56.2%78.6%22.5%17.3%2CHEK2 (2)
 Total37914538.3%7519.8%359.2%225.8%34.8%13
Grade/type
 Grade 11218.3%00.0%18.3%00.0%8.3%
 Grade 2481531.3%48.3%816.7%00.0%25.0%3ATM; BRIP1; PTEN
 Grade 3*24210643.8%6526.9%197.9%145.8%40.5%8ATM; CHEK2 (2); PALB2 (3); RAD50; RECQL
 Lobular8337.5%112.5%112.5%112.5%37.5%
 DCIS261142.3%27.7%27.7%623.1%38.5%1PALB2
 Unknown43920.9%37.0%49.3%12.3%18.6%1CHEK2
 Total37914538.3%7519.8%359.2%225.8%34.8%13
Manchester Scoring System
 <151061413.2%10.9%21.9%54.7%7.5%6CHEK2 (2); PALB2 (2); PTEN; RECQL
 15–191192823.5%97.6%75.9%108.4%21.8%2BRIP1; PALB2
 20–24642945.3%1320.3%1015.6%34.7%40.6%3ATM; CHEK2; PALB2
 25–39*594372.9%2949.2%915.3%35.1%69.5%2ATM; RAD50
 40>3131100.0%2374.2%722.6%13.2%100.0%
 Total37914538.3%7519.8%359.2%225.8%34.8%13
Bilateral breast cancer
 Bilateral633657.1%1828.6%812.7%1015.9%57.1%1BRIP1
  • *One case is BRCA1 and BRCA2 positive.

  • †Two cases are ER-/ HER2-, but PR+.

  • TNBC, triple-negative breast cancer.