-
1
-
-
79960867817
-
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA)
-
10.1016/j.hrthm.2011.05.020 21787999 10.1016/j.hrthm.2011.05.020
-
Ackerman, M. J.; Priori, S. G.; Willems, S.; Berul, C.; Brugada, R.; Calkins, H.; et al. (2011). HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Heart Rhythm, 8(8), 1308-1339. doi: 10.1016/j.hrthm.2011.05.020.
-
(2011)
Heart Rhythm
, vol.8
, Issue.8
, pp. 1308-1339
-
-
Ackerman, M.J.1
Priori, S.G.2
Willems, S.3
Berul, C.4
Brugada, R.5
Calkins, H.6
-
2
-
-
84864649027
-
Points to consider in the clinical application of genomic sequencing
-
ACMG Board of Directors 10.1038/gim.2012.74 10.1038/gim.2012.74
-
ACMG Board of Directors. (2012). Points to consider in the clinical application of genomic sequencing. Genetics in Medicine, 14(8), 759-761. doi: 10.1038/gim.2012.74.
-
(2012)
Genetics in Medicine
, vol.14
, Issue.8
, pp. 759-761
-
-
-
3
-
-
84904247092
-
-
Ambry Lab
-
Ambry Lab. (2013). Retrived from http://www.ambrygen.com/sites/default/ files/pdfs/ACMG%20shared%20slides.pdf.
-
(2013)
-
-
-
4
-
-
0035797528
-
Relative frequency and morphology of cancers in carriers of germline TP53 mutations
-
10.1038/sj.onc.1204621 1:CAS:528:DC%2BD3MXmtFejs7c%3D 11498785 10.1038/sj.onc.1204621
-
Birch, J. M.; Alston, R. D.; McNally, R. J.; Evans, D. G.; Kelsey, A. M.; Harris, M.; et al. (2001). Relative frequency and morphology of cancers in carriers of germline TP53 mutations. Oncogene, 20(34), 4621-4628. doi: 10.1038/sj.onc.1204621.
-
(2001)
Oncogene
, vol.20
, Issue.34
, pp. 4621-4628
-
-
Birch, J.M.1
Alston, R.D.2
McNally, R.J.3
Evans, D.G.4
Kelsey, A.M.5
Harris, M.6
-
5
-
-
79952741549
-
Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer
-
10.1158/0008-5472.can-10-3958 1:CAS:528:DC%2BC3MXjtFWgtL0%3D 3059378 21285249 10.1158/0008-5472.CAN-10-3958
-
Casadei, S.; Norquist, B. M.; Walsh, T.; Stray, S.; Mandell, J. B.; Lee, M. K.; et al. (2011). Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. Cancer Research, 71(6), 2222-2229. doi: 10.1158/0008-5472.can-10-3958.
-
(2011)
Cancer Research
, vol.71
, Issue.6
, pp. 2222-2229
-
-
Casadei, S.1
Norquist, B.M.2
Walsh, T.3
Stray, S.4
Mandell, J.B.5
Lee, M.K.6
-
6
-
-
0034071085
-
P53 germline mutations in childhood cancers and cancer risk for carrier individuals
-
10.1054/bjoc.2000.1167 1:CAS:528:DC%2BD3cXotFCjt7s%3D 2363254 10864200 10.1054/bjoc.2000.1167
-
Chompret, A.; Brugieres, L.; Ronsin, M.; Gardes, M.; Dessarps-Freichey, F.; Abel, A.; et al. (2000). P53 germline mutations in childhood cancers and cancer risk for carrier individuals. British Journal of Cancer, 82(12), 1932-1937. doi: 10.1054/bjoc.2000.1167.
-
(2000)
British Journal of Cancer
, vol.82
, Issue.12
, pp. 1932-1937
-
-
Chompret, A.1
Brugieres, L.2
Ronsin, M.3
Gardes, M.4
Dessarps-Freichey, F.5
Abel, A.6
-
7
-
-
37849041997
-
Genetic Variants of uncertain significance: Flies in the ointment
-
10.1200/JCO.2007.14.4154 18165634 10.1200/JCO.2007.14.4154
-
Domchek, S.; Weber, B. L. (2008). Genetic Variants of uncertain significance: flies in the ointment. Journal of Clinical Oncology, 26(1), 16-17. doi: 10.1200/JCO.2007.14.4154.
-
(2008)
Journal of Clinical Oncology
, vol.26
, Issue.1
, pp. 16-17
-
-
Domchek, S.1
Weber, B.L.2
-
8
-
-
84876071726
-
Multiplex genetic testing for cancer susceptibility: Out on the high wire without a net?
-
10.1200/jco.2012.46.9403 23460708 10.1200/JCO.2012.46.9403
-
Domchek, S. M.; Bradbury, A.; Garber, J. E.; Offit, K.; Robson, M. E. (2013). Multiplex genetic testing for cancer susceptibility: out on the high wire without a net? Journal of Clinical Oncology, 31(10), 1267-1270. doi: 10.1200/jco.2012.46.9403.
-
(2013)
Journal of Clinical Oncology
, vol.31
, Issue.10
, pp. 1267-1270
-
-
Domchek, S.M.1
Bradbury, A.2
Garber, J.E.3
Offit, K.4
Robson, M.E.5
-
9
-
-
33847227378
-
A recurrent mutation in PALB2 in Finnish cancer families
-
10.1038/nature05609 1:CAS:528:DC%2BD2sXivVSns78%3D 17287723 10.1038/nature05609
-
Erkko, H.; Xia, B.; Nikkila, J.; Schleutker, J.; Syrjakoski, K.; Mannermaa, A.; et al. (2007). A recurrent mutation in PALB2 in Finnish cancer families. Nature, 446(7133), 316-319. doi: 10.1038/nature05609.
-
(2007)
Nature
, vol.446
, Issue.7133
, pp. 316-319
-
-
Erkko, H.1
Xia, B.2
Nikkila, J.3
Schleutker, J.4
Syrjakoski, K.5
Mannermaa, A.6
-
10
-
-
34447106707
-
BRIP1 (BACH1) variants and familial breast cancer risk: A case-control study
-
10.1186/1471-2407-7-83 1887536 17504528 10.1186/1471-2407-7-83
-
Frank, B.; Hemminki, K.; Meindl, A.; Wappenschmidt, B.; Sutter, C.; Kiechle, M.; et al. (2007). BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study. BMC Cancer, 7, 83. doi: 10.1186/1471-2407-7-83.
-
(2007)
BMC Cancer
, vol.7
, pp. 83
-
-
Frank, B.1
Hemminki, K.2
Meindl, A.3
Wappenschmidt, B.4
Sutter, C.5
Kiechle, M.6
-
11
-
-
62449249871
-
Beyond Li Fraumeni Syndrome: Clinical characteristics of families with p53 germline mutations
-
10.1200/jco.2008.16.6959 1:CAS:528:DC%2BD1MXktFKhsLg%3D 19204208 10.1200/JCO.2008.16.6959
-
Gonzalez, K. D.; Noltner, K. A.; Buzin, C. H.; Gu, D.; Wen-Fong, C. Y.; Nguyen, V. Q.; et al. (2009). Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations. Journal of Clinical Oncology, 27(8), 1250-1256. doi: 10.1200/jco.2008.16.6959.
-
(2009)
Journal of Clinical Oncology
, vol.27
, Issue.8
, pp. 1250-1256
-
-
Gonzalez, K.D.1
Noltner, K.A.2
Buzin, C.H.3
Gu, D.4
Wen-Fong, C.Y.5
Nguyen, V.Q.6
-
12
-
-
81155133279
-
Long-term reactions to genetic testing for BRCA1 and BRCA2 mutations: Does time heal women's concerns?
-
10.1200/jco.2010.33.1561 3221529 21990416 10.1200/JCO.2010.33.1561
-
Halbert, C. H.; Stopfer, J. E.; McDonald, J.; Weathers, B.; Collier, A.; Troxel, A. B.; et al. (2011). Long-term reactions to genetic testing for BRCA1 and BRCA2 mutations: does time heal women's concerns? Journal of Clinical Oncology, 29(32), 4302-4306. doi: 10.1200/jco.2010.33.1561.
-
(2011)
Journal of Clinical Oncology
, vol.29
, Issue.32
, pp. 4302-4306
-
-
Halbert, C.H.1
Stopfer, J.E.2
McDonald, J.3
Weathers, B.4
Collier, A.5
Troxel, A.B.6
-
13
-
-
67650945260
-
Emotional distress following genetic testing for hereditary breast and ovarian cancer: A meta-analytic review
-
10.1037/a0014778 2807362 19594276 10.1037/a0014778
-
Hamilton, J. G.; Lobel, M.; Moyer, A. (2009). Emotional distress following genetic testing for hereditary breast and ovarian cancer: a meta-analytic review. Health Psychology, 28(4), 510-518. doi: 10.1037/a0014778.
-
(2009)
Health Psychology
, vol.28
, Issue.4
, pp. 510-518
-
-
Hamilton, J.G.1
Lobel, M.2
Moyer, A.3
-
14
-
-
84893105282
-
-
National Comprehensive Cancer Network Clinical Practice Guidelines in Oncology
-
National Comprehensive Cancer Network Clinical Practice Guidelines in Oncology, "Genetic/Familial High-Risk Assessment: Breast and Ovarian," 2013, http://www.nccn.org/index.asp.
-
(2013)
Genetic/Familial High-Risk Assessment: Breast and Ovarian
-
-
-
15
-
-
64849092309
-
Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene
-
10.1126/science.1171202 1:CAS:528:DC%2BD1MXktFalsr0%3D 2684332 19264984 10.1126/science.1171202
-
Jones, S.; Hruban, R. H.; Kamiyama, M.; Borges, M.; Zhang, X.; Parsons, D. W.; et al. (2009). Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. Science, 324(5924), 217. doi: 10.1126/science.1171202.
-
(2009)
Science
, vol.324
, Issue.5924
, pp. 217
-
-
Jones, S.1
Hruban, R.H.2
Kamiyama, M.3
Borges, M.4
Zhang, X.5
Parsons, D.W.6
-
16
-
-
0031031049
-
Tumors associated with p53 germline mutations: A synopsis of 91 families
-
1:STN:280:DyaK2s7lvV2ktw%3D%3D 1858532 9006316
-
Kleihues, P.; Schauble, B.; Zur Hausen, A.; Esteve, J.; Ohgaki, H. (1997). Tumors associated with p53 germline mutations: a synopsis of 91 families. The American Journal of Pathology, 150(1), 1-13.
-
(1997)
The American Journal of Pathology
, vol.150
, Issue.1
, pp. 1-13
-
-
Kleihues, P.1
Schauble, B.2
Zur Hausen, A.3
Esteve, J.4
Ohgaki, H.5
-
17
-
-
34447619477
-
Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer
-
10.1186/bcr1336 1:CAS:528:DC%2BD2MXht1WmsrjL 1410737 16280053 10.1186/bcr1336
-
Lewis, A. G.; Flanagan, J.; Marsh, A.; Pupo, G. M.; Mann, G.; Spurdle, A. B.; et al. (2005). Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer. Breast Cancer Research, 7(6), R1005-R1016. doi: 10.1186/bcr1336.
-
(2005)
Breast Cancer Research
, vol.7
, Issue.6
-
-
Lewis, A.G.1
Flanagan, J.2
Marsh, A.3
Pupo, G.M.4
Mann, G.5
Spurdle, A.B.6
-
18
-
-
0023715595
-
A cancer family syndrome in twenty-four kindreds
-
1:STN:280:DyaL1czhtV2htg%3D%3D 3409256
-
Li, F. P.; Fraumeni, J. F.; Jr.; Mulvihill, J. J.; Blattner, W. A.; Dreyfus, M. G.; Tucker, M. A.; et al. (1988). A cancer family syndrome in twenty-four kindreds. Cancer Research, 48(18), 5358-5362.
-
(1988)
Cancer Research
, vol.48
, Issue.18
, pp. 5358-5362
-
-
Li, F.P.1
Fraumeni, Jr.J.F.2
Mulvihill, J.J.3
Blattner, W.A.4
Dreyfus, M.G.5
Tucker, M.A.6
-
19
-
-
84855564475
-
Next-generation sequencing for cancer diagnostics: A practical perspective
-
Meldrum, C.; Doyle, M. A.; Tothill, R. W. (2011). Next-generation sequencing for cancer diagnostics: a practical perspective. Clinical Biochemistry Reviews, 32(4), 177-195.
-
(2011)
Clinical Biochemistry Reviews
, vol.32
, Issue.4
, pp. 177-195
-
-
Meldrum, C.1
Doyle, M.A.2
Tothill, R.W.3
-
20
-
-
0035117108
-
Germ-line p53 mutations predispose to a wide spectrum of early-onset cancers
-
1:CAS:528:DC%2BD3MXhtl2gsb8%3D 11219776
-
Nichols, K. E.; Malkin, D.; Garber, J. E.; Fraumeni, J. F.; Jr.; Li, F. P. (2001). Germ-line p53 mutations predispose to a wide spectrum of early-onset cancers. Cancer Epidemiology, Biomarkers and Prevention, 10(2), 83-87.
-
(2001)
Cancer Epidemiology, Biomarkers and Prevention
, vol.10
, Issue.2
, pp. 83-87
-
-
Nichols, K.E.1
Malkin, D.2
Garber, J.E.3
Fraumeni, Jr.J.F.4
Li, F.P.5
-
21
-
-
79959990099
-
Personalized medicine: New genomics, old lessons
-
10.1007/s00439-011-1028-3 3128266 21706342 10.1007/s00439-011-1028-3
-
Offit, K. (2011). Personalized medicine: new genomics, old lessons. Human Genetics, 130(1), 3-14. doi: 10.1007/s00439-011-1028-3.
-
(2011)
Human Genetics
, vol.130
, Issue.1
, pp. 3-14
-
-
Offit, K.1
-
22
-
-
34250724372
-
Indications for genetic referral: A guide for health care professionals
-
3110962 17575505 10.1097/GIM.0b013e318064e70c
-
Pletcher, B. A.; Toriello, H. V.; Noblin, S. J.; Seaver, L. H.; Driscool, D. A.; Bennett, R. L.; et al. (2007). Indications for genetic referral: a guide for health care professionals. Genetics in Medicine, 9(6), 385-389.
-
(2007)
Genetics in Medicine
, vol.9
, Issue.6
, pp. 385-389
-
-
Pletcher, B.A.1
Toriello, H.V.2
Noblin, S.J.3
Seaver, L.H.4
Driscool, D.A.5
Bennett, R.L.6
-
23
-
-
84902829627
-
Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: Recommendations from the U.S. Preventive Services Task Force
-
U.S. Preventive Services Task Force
-
U.S. Preventive Services Task Force (2014). Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: Recommendations From the U.S. Preventive Services Task Force. Annals of Internal Medicine 160 (4), I-16-16.
-
(2014)
Annals of Internal Medicine
, vol.160
, Issue.4
-
-
-
24
-
-
80054973810
-
Mutations in BRIP1 confer high risk of ovarian cancer
-
10.1038/ng.955 1:CAS:528:DC%2BC3MXht1Crt77E 21964575 10.1038/ng.955
-
Rafnar, T.; Gudbjartsson, D. F.; Sulem, P.; Jonasdottir, A.; Sigurdsson, A.; Jonasdottir, A.; et al. (2011). Mutations in BRIP1 confer high risk of ovarian cancer. Nature Genetics, 43(11), 1104-1107. doi: 10.1038/ng.955.
-
(2011)
Nature Genetics
, vol.43
, Issue.11
, pp. 1104-1107
-
-
Rafnar, T.1
Gudbjartsson, D.F.2
Sulem, P.3
Jonasdottir, A.4
Sigurdsson, A.5
Jonasdottir, A.6
-
25
-
-
33846625493
-
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene
-
10.1038/ng1959 1:CAS:528:DC%2BD2sXpvFeqsw%3D%3D 2871593 17200668 10.1038/ng1959
-
Rahman, N.; Seal, S.; Thompson, D.; Kelly, P.; Renwick, A.; Elliott, A.; et al. (2007). PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nature Genetics, 39(2), 165-167. doi: 10.1038/ng1959.
-
(2007)
Nature Genetics
, vol.39
, Issue.2
, pp. 165-167
-
-
Rahman, N.1
Seal, S.2
Thompson, D.3
Kelly, P.4
Renwick, A.5
Elliott, A.6
-
26
-
-
84883897500
-
ACMG clinical laboratory standards for next-generation sequencing
-
10.1038/gim.2013.92 23887774 10.1038/gim.2013.92
-
Rehm, H. L.; Bale, S. J.; Bayrak-Toydemir, P.; Berg, J. S.; Brown, K. K.; Deignan, J. L.; et al. (2013). ACMG clinical laboratory standards for next-generation sequencing. Genetics in Medicine, 15(9), 733-747. doi: 10.1038/gim.2013.92.
-
(2013)
Genetics in Medicine
, vol.15
, Issue.9
, pp. 733-747
-
-
Rehm, H.L.1
Bale, S.J.2
Bayrak-Toydemir, P.3
Berg, J.S.4
Brown, K.K.5
Deignan, J.L.6
-
27
-
-
77649208372
-
American society of clinical oncology policy statement update: Genetic and genomic testing for cancer susceptibility
-
20065170 10.1200/JCO.2009.27.0660
-
Robson, M. E.; Storm, C. D.; Weitzel, J.; Wollins, D. S.; Offit, K. (2010). American society of clinical oncology policy statement update: Genetic and genomic testing for cancer susceptibility. Journal of Clinical Oncology, 28(5), 893-901.
-
(2010)
Journal of Clinical Oncology
, vol.28
, Issue.5
, pp. 893-901
-
-
Robson, M.E.1
Storm, C.D.2
Weitzel, J.3
Wollins, D.S.4
Offit, K.5
-
28
-
-
33750465216
-
Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles
-
10.1038/ng1902 1:CAS:528:DC%2BD28XhtFeisbjJ 17033622 10.1038/ng1902
-
Seal, S.; Thompson, D.; Renwick, A.; Elliott, A.; Kelly, P.; Barfoot, R.; et al. (2006). Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nature Genetics, 38(11), 1239-1241. doi: 10.1038/ng1902.
-
(2006)
Nature Genetics
, vol.38
, Issue.11
, pp. 1239-1241
-
-
Seal, S.1
Thompson, D.2
Renwick, A.3
Elliott, A.4
Kelly, P.5
Barfoot, R.6
-
29
-
-
79957474904
-
Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: A prospective observational study
-
10.1016/s1470-2045(11)70119-x 1:CAS:528:DC%2BC3MXmslKisrg%3D 21601526 10.1016/S1470-2045(11)70119-X
-
Villani, A.; Tabori, U.; Schiffman, J.; Shlien, A.; Beyene, J.; Druker, H.; et al. (2011). Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study. The Lancet Oncology, 12(6), 559-567. doi: 10.1016/s1470-2045(11)70119-x.
-
(2011)
The Lancet Oncology
, vol.12
, Issue.6
, pp. 559-567
-
-
Villani, A.1
Tabori, U.2
Schiffman, J.3
Shlien, A.4
Beyene, J.5
Druker, H.6
-
30
-
-
81055126264
-
Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing
-
10.1073/pnas.1115052108 1:CAS:528:DC%2BC3MXhsVOktLbN 3207658 22006311 10.1073/pnas.1115052108
-
Walsh, T.; Casadei, S.; Lee, M. K.; Pennil, C. C.; Nord, A. S.; Thornton, A. M.; et al. (2011). Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proceedings of the National Academy of Sciences of the United States of America, 108(44), 18032-18037. doi: 10.1073/pnas.1115052108.
-
(2011)
Proceedings of the National Academy of Sciences of the United States of America
, vol.108
, Issue.44
, pp. 18032-18037
-
-
Walsh, T.1
Casadei, S.2
Lee, M.K.3
Pennil, C.C.4
Nord, A.S.5
Thornton, A.M.6
|