From: Next-generation sequencing in familial breast cancer patients from Lebanon
Family number/Patient code | Genes | Results | HGMD Professional | ExAC allele frequency |
---|---|---|---|---|
1/B19 | XRCC3 | c.C722T p.T241M | DFP Association with melanoma | 0.3075 |
XRCC1 | c.G839A p.R280H | DFP Association with increased lung cancer | 0.08811 | |
CASP8 | c.*429A > G | Not found | Not found | |
BRCA2 | c.C65T p.A22V | Not found | Not found | |
MUTYH | c.C1258G p.L420V | Not found | Not found | |
SLX4 | c.C1837T p.Q613X | Not found | Not found | |
2/B21 | BRCA1 | c.A536G p.Y179C | DM Breast and/or ovarian cancer | 0.0002718 |
ATM | c.T2572C p.F858L | DP Association with breast cancer | 0.009149 | |
ATM | c.C3161G p.P1054R | DFP Association with breast cancer | 0.01692 | |
TP53 | c.C215G p.P72R | DFP Association with Lung cancer | 0.6600 | |
3/B22 | BRCA2 | c.C5744T p.T1915M | DP Association with breast cancer risk | 0.01790 |
ARL11 | c.G446A p.W149X | DP Association with cancer | 0.009898 | |
TP53 | c.C215G p.P72R | DFP Association with Lung cancer | 0.6600 | |
ERCC3 | c.C508T p.R170X | Not found | Not found | |
VHL | c.A631C p.M211L | Not found | 0.00004623 | |
MRE11A | c.C1491T p.I497I | Not found | 0.0006514 | |
PTCH1 | c.G4054A p.V1352I | Not found | Not found | |
4/B23 | TP53 | c.C215G p.P72R | DFP Association with Lung cancer | 0.6600 |
TP53 | c.C245T p.P82L | DM Breast cancer | 0.00001657 | |
BRCA2 | c.A1114C p.N372H | DFP Association with Breast cancer | 0.2779 | |
FANCA | c.G1038C p.W346C | Not found | 0.00006621 | |
POLE | c.C3890T p.S1297L | Not found | 0.00002580 | |
POLD1 | c.T2257C p.Y753H | Not found | Not found | |
GATA2 | c.C1040T p.T347I | Not found | Not found | |
5/B24 | BRCA2 | c.G8775C p.Q2925H | Not found | 0.000008322 |
APC | c.C6821T p.A2274V | DM Adenomatous polyposis coli | 0.0009917 | |
EZH2 | c.C349T p.Q117X | Not found | Not found | |
6/B25 | XRCC3 | c.C722T p.T241M | DFP Association with melanoma | 0.3075 |
MLH1 | c.A655G p.I219V | DP Colorectal cancer, non-polyposis | 0.2325 | |
RAD51D | c.G494A p.R165Q | Not found | Not found | |
ATM | c.496 + 4 T > C | Not found | 0.00009891 | |
PPM1D | c.G275C p.C92S | Not found | Not found | |
STK11 | c.375-1C > T | DM Colorectal cancer | Not found | |
7/B26 | XRCC3 | c.C722T p.T241M | DFP Association with melanoma | 0.3075 |
MSH2 | c.C1045G p.P349A | DM Renal cell carcinoma | 0.00009062 | |
MUTYH | c.C1174A p.L392M | Not found | Not found | |
MUTYH | c.C1258A p.L420M | DM? Colorectal cancer | Not found | |
ATM | c.496 + 4 T > C | Not found | 0.00009891 | |
RB1 | c.C1505T p.T502I | Not found | 0.00001098 | |
PPM1D | c.G275C p.C92S | Not found | Not found | |
8/B27 | XRCC3 | c.C722T p.T241M | DFP Association with melanoma | 0.3075 |
BRCA1 | c.A1067G p.Q356R | DP Association with breast and/or ovarian cancer | 0.04407 | |
XRCC1 | c.C580T p.R194W | DFP Benign breast disease | 0.09276 | |
CDH1 | c.G1774A p.A592T | DM? Breast cancer | 0.003212 | |
35/B28 | BARD1 | c.1071_1091del p.357_364del | Not found | Not found |
ABCC12 | c.G490T p.G164X | DM Bladder cancer | 0.003185 | |
MCC | c.G152T p.G51V | Not found | 0.0001346 | |
9/B31 | ATM | c.T2119C p.S707P | DFP Association with Breast cancer | 0.007927 |
FANCA | c.C4232T p.P1411L | Not found | 0.0001318 | |
36/B32 | ATM | c.C2770T p.R924W | Not found | 0.00004942 |
ALK | c.T4211C p.L1404P | Not found | 0.00008370 | |
10/B33 | BRIP1 | c.A3571G p.I1191V | Not found | 0.00004967 |
NSD1 | c.2224_2243del p.P742fs | Not found | Not found | |
FANCG | c.G1298C p.R433P | Not found | 0.00004118 | |
FLCN | c.T1387C p.Y463H | Not found | 0.00003298 | |
PTCH1 | c.A3749G p.Y1250C | Not found | Not found | |
11/B34 | XRCC4 | c.T401C p.I134T | DP Association with Lung cancer | 0.02505 |
RAD51C | c.G376A p.A126T | FP Reduced activity | 0.003529 | |
12/B35 | ARL11 | c.G571A p.G191R | Not found | 0.00002188 |
Rad50 | c.A280C p.I94L | DM? Breast and/or ovarian cancer | 0.003473 | |
POLE | c.G2276A p.R759H | Not found | 0.00001647 | |
13/B36 | BRCA1 | c.G131T p.C44F | DM Breast and/or ovarian cancer | Not found |
SLX4 | c.G421T p.G141W | DM Breast and/or ovarian cancer | 0.0008237 | |
STK11 | c.C1211T p.S404F | DM Peutz-Jeghers syndrome | 0.0009281 | |
PALB2 | c.G2993A p.G998E | DP Breast cancer, increased risk- | 0.01579 | |
BRCA2 | c.C1151T p.S384F | DM? Breast cancer | 0.0006789 | |
DICER1 | c.A5276G p.K1759R | Not found | 0.00004942 | |
CEBPA | c.T122C p.I41T | Not found | Not found | |
RECQL4 | c.G3314A p.G1105D | Not found | 0.005430 | |
14/B37 | RAD50 | c.G379A p.V127I | Not found | 0.001653 |
CASP8 | c.A1117G p.I373V | Not found | Not found | |
RECQL4 | c.C3184T p.R1062W | Not found | 0.0003129 | |
WRN | c.G4129A p.G1377S | Not found | 0.00002483 | |
15/B38 | BARD1 | c.C119T p.A40V | Not found | 0.00004775 |
PTCH1 | c.169_170delCT p.57_57del | Not found | 0.000008913 | |
PTCH1 | c.A3749G p.Y1250C | Not found | Not found | |
PTCH1 | c.C4126T p.R1376W | Not found | Not found | |
ERCC5 | c.A1904G p.H635R | Not found | Not found | |
DICER1 | c.C3811T p.L1271F | Not found | Not found | |
16/B39 | CDKN2A | c.G442A p.A148T | DP Association with melanoma | 0.02278 |
RAD51D | c.A758G p.E253G | Not found | 0.01144 | |
ERCC6 | c.C2800A p.P934T | DM Cockayne syndrome | Not found | |
17/B40 | MSH2 | c.A1787G p.N596S | DM Colorectal cancer, non-polyposis | 0.0002558 |
ATM | c.A1982C p.D661A | Not found | Not found | |
PMS2 | c.G1688T p.R563L | DM? Colorectal cancer, non-polyposis | 0.005813 | |
GPC3 | c.78_79insCCG p.P27delinsPP | Not found | Not found | |
18/B41 | BRCA2 | c.658_659delGT p.V220I* | DM Breast and/or ovarian cancer | 0.00006119 |
SLX4 | c.G3337C p.G1113R | Not found | 0.000008237 | |
SMARCA4 | c.C1098G p.I366M | Not found | 0.00002715 | |
EPHX1 | c.G1040C p.R347T | Not found | 0.00003296 | |
19/B42 | wwoxtv2 | c.A544G p.K182E | DM? cancer | Not found |
ATM | c.A5558T p.D1853V | DP Association with breast cancer, contralateral | 0.005186 | |
RET | c.C2508T p.S836S | DP Association with thyroid cancer | 0.04666 | |
BRCA1 | c.5090_5093delGTTA p.L1697fs | Not found | Not found | |
20/B43 | PALB2 | c.G2014C p.E672Q | DM? Breast cancer? (common variant) | 0.02239 |
PALB2 | c.G2993A p.G998E | DP Breast cancer (common variant) | 0.01579 | |
RAD51C | c.G376A p.A126T | FP Reduced activity | 0.003529 | |
Tp53 | c.673-36G > C | DFP Breast cancer | Not found | |
21/B44 | SLX4 | c.G421T p.G141W | DM Breast and/or ovarian cancer | 0.0008237 |
SLX4 | c.C1919A p.T640N | Not found | Not found | |
FANCM | c.A5224G p.I1742V | Not found | 0.008398 | |
POLD1 | c.G2793C p.K931N | Not found | Not found | |
22/B45 | ATM | c.A5071C p.S1691R | DM Ataxia telangiectasia | 0.002019 |
BRIP1 | c.G2220T p.Q740H | DM? Breast and/or ovarian cancer | 0.0004614 | |
RET | c.C2508T p.S836S | DP Association with thyroid cancer | 0.04666 | |
FANCA | c.A796G p.T266A | DP Associated with breast cancer | 0.5166 | |
23/B46 | BARD1 | c.1071_1091del p.357_364del | Not found | Not found |
FANCA | c.C3412G p.L1138V | Not found | 0.001533 | |
MRE11A | c.A1728T p.R576R | Not found | 0.000008238 | |
SLX4 | c.C1186G p.L396V | Not found | Not found | |
37/B47 | SLX4 | c.A5501G p.N1834S | Not found | 0.005542 |
ERCC4 | c.G1633C p.G545R | Not found | 0.000008243 | |
38/B48 | SDHC | c.C31T p.R11C | Not found | 0.000008252 |
FANCD2 | c.A1348G p.I450V | Not found | 0.0003871 | |
FANCF | c.C959T p.P320L | Not found | 0.01264 | |
TSC2 | c.A2834G p.K945R | Not found | Not found | |
DIS3L2 | c.1651_1652insGGG p.A551delinsGA | Not found | Not found | |
GNAS | c.C1046T p.P349L | Not found | Not found | |
24/B49 | BRCA1 | c.C4327T p.R1443* | DM Breast cancer | Not found |
MSH2 | c.C1045G p.P349A | DM Renal cell carcinoma | 0.00009062 | |
MSH2 | c.G965A p.G322D | DM? Colorectal cancer, non-polyposis | 0.01411 | |
BARD1 | c.G253T p.V85L | Not found | 0.001068 | |
NBN | c.G340T p.V114F | Not found | Not found | |
RET | c.C2249G p.A750G | Not found | 0.000008238 | |
XRCC3 | c.C260T p.P87L | Not found | 0.00006286 | |
25/B50 | POLH | c.A2074G p.T692A | DM Xeroderma pigmentosum | 0.0001824 |
Tp53 | c.673-36G > C | DFP Breast cancer | Not found | |
CTNNB1 | c.A2315G p.N772S | Not found | 0.00003355 | |
POLD1 | c.C519G p.S173R | Not found | 0.009212 | |
26/D1 | ARL11 | c.G446A p.W149X | DP Association with cancer | 0.009898 |
MSH2 | c.T1182G p.F394L | Not found | 0.00001648 | |
27/D4 | CHEK2 | c.T470C p.I157T | DFP Li-Fraumeni syndrome | Not found |
28/D5 | CDH1 | c.G2387A p.R796Q | Not found | 0.00003300 |
29/D6 | BUB1B | c.A1535G p.E512G | Not found | 0.000008239 |
30/D7 | APC | c.C2876T p.S959F | Not found | Not found |
BRCA1 | c.G131T p.C44F | DM Breast and/or ovarian cancer | Not found | |
PRF1 | c.G3A p.M1I | DM Haemophagocytic lymphohistiocytosis, familial | Not found | |
31/D8 | TP53 | c.G469A p.V157I | DM Sarcoma, adult-onset | 0.00005776 |
32/III_4 | CDH1 | c.G3A p.M1I | DM Gastric cancer | Not found |
BRCA2 | c.C4061T p.T1354M | DM Breast cancer | 0.000008328 | |
BRCA2 | c.G4258T p.D1420Y | DM? Breast and/or ovarian cancer | 0.006796 | |
33/D12 | CDH1 | c.A160G p.R54G | Not found | 0.00005916 |
34/D13 | BRCA2 | c.G223C p.A75P | DM? Breast cancer | 0.0001650 |