Table 3.

Family cancer histories of probands, carriers of PALB2 mutations, and the histopathology features of PALB2-associated tumours.

Mutation	Pedigree	Breast cancer diagnoses	Grade	Histological type (1°)	ER	PR	HER2
a) PALB2 c.3113G>A	A	Proband +
		P.FCOR +
		P.cousin -
		P.aunt
	B	Proband +	3	IDC	pos	neg	Eqv
		P.aunt
		P.cousin -
		P.cousin
		P.g.mother
	C	Proband +	1	Tubular	pos	pos	neg
		Sister +	3	IDC	pos	neg
		P.aunt
		M.aunt
		M.cousin
	D	Proband +	2	IDC*
		Sister +	1	IDC
		P.cousin +
		P.cousin
		P.aunt
		P.aunt
	E	Proband +	3	IDC	neg	neg	Eqv
		Sister
		M.cousin +
		M.cousin
		M.cousin +	2	Pl. lobular	pos	pos
		M.aunt
	F	Proband +	3	IDC	pos	pos	pos
	G	Proband +	2	Lobular
		Sister
	H	Proband +	2	IDC	pos	neg	Eqv
		Sister +	2	IDC	pos	pos
		Mother -
		M.g.mother
b) PALB2 c.196C>T	I	Proband +	3	IDC	pos	pos
		Mother -
		P.cousin
		P.cousin
		P.g.-g.mother
		P.g.aunt
		P.g.aunt
		P.g.aunt
c) PALB2 c.1947_1948insA	J	Proband +	2	Pl. lobular	pos	pos	pos
		Sister
		M.cousin
		M.cousin
		M.FCOR
		M.g.Aunt
		P.cousin
		Sister in law
d) PALB2 c.2982_2983insT	K	Proband +	3	IDC
		Sister +	2-3	IDC	pos	neg	pos
		M.aunt

Histopathology and carrier status information were presented where available. *Secondary histological type is lobular carcinoma. Dx, diagnosis; 1°, primary; ER, estrogen receptor; PR, progesterone receptor; HER2, human epidermal growth factor-2; P, paternal; M, maternal; G, grand; G-G, great-grand; FCOR, first cousin once removed; IDC, invasive ductal carcinoma; Pos, positive; Neg, negative; +, genotyped and identified to be a carrier of the respective PALB2 mutation; -, genotyped and found to not be a carrier of a PALB2 mutation; Pl, pleomorphic; Uk, unknown; Eqv, equivocal, tested to be 2+ by immunohistochemistry but not confirmed by fluorescence in situ hybridisation