Insertions/Deletions
|
5-1B
|
BRCA1
|
15 of 23
|
c.4964_4982del19a
|
rs80359876
|
6d; Pathogenic/likely pathogenice; Familial breast and breast-ovarian cancer, Hereditary cancer-predisposing syndromef.
|
STOP at p.1670
|
-
|
p.Ser1655Tyrfs
|
193 AA short
|
5-3C
|
BRCA1
|
19 of 23
|
c.5266_5267insCa
|
rs397507247
|
13d; Pathogenic, risk factore; Familial breast, breast-ovarian, and pancreatic cancer, Hereditary cancer-predisposing syndromef.
|
STOP at p.1788
|
[148, 154]
|
p.Gln1756Profs
|
75 AA short
|
5-3A
|
PALB2
|
4 of 13
|
c.1617_1618insTTa
|
-
|
1d; Pathogenice; Hereditary cancer-predisposing syndromef.
|
STOP at p.561
|
-
|
p.Asn540Leufs
|
626 AA short
|
Stop Codons
|
7-1G
|
BRCA2
|
15 of 27
|
c.7558C > Tb
|
rs80358981
|
5d; Pathogenice; Familial breast, and breast-ovarian cancer, Hereditary cancer-predisposing syndromef.
|
899 AA short
|
[158]
|
p.Arg2520Ter
|
4-4A
|
BRCA2
|
25 of 27
|
c.9294C > Ga
|
rs80359200
|
3d; Pathogenice; Familial breast and breast-ovarian cancerf.
|
321 AA short
|
[159]
|
p.Tyr3098Ter
|
7-3A
|
PALB2
|
4 of 13
|
c.1240C > Ta
|
rs180177100
|
3d; Pathogenice; Familial breast cancer, Hereditary cancer-predisposing syndromef.
|
773 AA short
|
[58]
|
p.Arg414Ter
|
4-4D
|
PALB2
|
4 of 13
|
c.1042C > Ta
|
Novel
|
-
|
839 AA short
|
-
|
p.Gln348Ter
|