Table 2.

List of pathogenic and likely pathogenic variants identified

Gene Transcript	cDNA change	Protein change	Variant Type	Consequence	IARC	Sex	Age at diagnosis	Personal history (age)	Familial history (cases)
BRCA1 NM_007294	c.5468-1G > A	p.(?)	SNV	Splicing	C5	F	69	breast (42, 55)	pancreas (1), breast (1), uterus (1)
BRCA2 NM_000059	c.6039del	p.(Val2014TyrfsTer26)	del	Frameshift	C5	M	63	none	breast (1), stomach (1), lung (1), brain (1)
BRCA2 NM_000059	c.8364G > A	c.8364G > A	SNV	Missense	C5	M	72	none	NA
BRCA2 NM_000059	c.1532_133insT	(p.Pro512ThrfsTer2)	ins	Frameshift	C5	M	61	none	lung (1), prostate (1)
ATM NM_000051	c.3275C > A	p.(Ser1092*)	SNV	Nonsense	C5	M	44	NA	NA
ATM NM_000051	c.4236 + 2 T > A	p.(?)	SNV	Splicing	C4	F	56	none	none
PALB2 NM_024675	c.2167_2168del	p.(Met723Valfs*21)	del	Frameshift	C5	F	44	none	breast (1), colon (1), head and neck (1)
RAD50 NM_005732	c.1636-1G > A	p.?	SNV	Splicing	C4	M	53	none	none

M Male, F Female, IARC International Agency for Research on Cancer classification (C5: pathogenic; C4: likely pathogenic), SNV Single Nucleotide Variation, NA Not available