Identification of a novel truncating PALB2mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women

Table 3 Pathology findings in the breast specimens from three Q775X mutation carriers

Feature	P28031	P31010^a		P26007
Histological type	IDC	Left breast DCIS only	Right breast IDC	IDC with medullary features
Size (cm) (invasive)	1.5	N/A	0.7	3.0^b
BRE histological grade (IDC)	2	N/A	3	3
Associated DCIS	Cribriform, grade 1	Clinging micropapillary, grade 2	Micropapillary and clinging, grade 3	Not present
Nodal involvement	0/1 (sentinel)	N/A	3/16	0/14^c
Estrogen receptor	+++ (>90%)	+ (20%)	-	-
Progesterone receptor	+++ (>90%)	++ (50%)	-	-
HER2-neu expression	-	++	- (+ in 10% CIS)	+ (10% of cells)

^aPatient initially had excisional biopsy followed by modified radical mastectomy.
^bBased on clinical measurement: the patient had neoadjuvant chemotherapy (doxorubicin and cyclophosphamide).
^cFollowing neoadjuvant chemotherapy.
Key for immunohistochemical staining: +++, strongly positive; ++, moderately positive; +, weakly positive; -, negative.
BRE, Bloom-Richardson-Ellis; CIS, carcinoma in situ; DCIS, ductal carcinoma in situ; HER2-neu, human epidermal growth factor receptor 2; IDC, infiltrating ductal breast cancer; N/A, not applicable.

ISSN: 1465-542X