Skip to main content

Table 2 Pathogenic variants detected in breast cancer subgroups

From: Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer

 

Any variant class 4/5a, n (%)

P Value

Breast cancer, NHG grade (n = 2984)

P = 2.00 × 10–14

NHG grade 1 (n = 401)

31 (7.7)

 

NHG grade 2 (n = 1234)

154 (12.5)

 

NHG grade 3 (n = 1349)

291 (21.6)

 

Breast cancer, morphological subtype (n = 3376)

P = 1.20 × 10–9

Ductal (n = 2735)

475 (17.4)

 

Lobular (n = 301)

21 (7.0)

 

Medullary (n = 61)

24 (39.3)

 

Other invasive (n = 279)

42 (15.1)

 

Breast cancer, estrogen receptor status (n = 3291)

P = 2.38 × 10–9

ER positive (n = 2411)

345 (14.3)

 

ER negative (n = 880)

203 (23.1)

 

Breast cancer, molecular subtype (n = 2830)

P = 6.54 × 10–21

ER + , HER2-, NHG 1 (Luminal A-like, n = 334)

25 (7.5)

 

ER + , HER2-, NHG 2 (Luminal not classified, n = 859)

102 (11.9)

 

ER + , HER2-, NHG 3 (Luminal B-like, n = 404)

97 (24.0)

 

ER + , HER2 + (HER2-positive/Luminal, n = 430)

57 (13.3)

 

ER-, HER2 + (HER2-positive/non-Luminal, n = 194)

24 (12.4)

 

ER-, PR-, HER2- (Triple-negative, n = 609)

165 (27.1)

 
  1. In each subgroup, only cases with complete data for the respective variables were included. P-values were calculated using the Pearson chi-square test (two-tailed)
  2. aSum of all detected variants in ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, PTEN, RAD51C, RAD51D and TP53. For the corresponding tables subdivided by gene, see Additional file 2: Table S4a and S4b
  3. NGS Nottingham Histologic Grade, ER Estrogen receptor, PR Progesterone receptor