-
1
-
-
84876071726
-
Multiplex genetic testing for cancer susceptibility: out on the high wire without a net?
-
PID: 23460708
-
Domchek SM, Bradbury A, Garber JE, Offit K, Robson ME (2013) Multiplex genetic testing for cancer susceptibility: out on the high wire without a net? J Clin Oncol 31:1267–1270
-
(2013)
J Clin Oncol
, vol.31
, pp. 1267-1270
-
-
Domchek, S.M.1
Bradbury, A.2
Garber, J.E.3
Offit, K.4
Robson, M.E.5
-
2
-
-
84875217898
-
Disease-targeted sequencing: a cornerstone in the clinic
-
COI: 1:CAS:528:DC%2BC3sXjslKlu7k%3D, PID: 23478348
-
Rehm HL (2013) Disease-targeted sequencing: a cornerstone in the clinic. Nat Rev Genet 14:295–300
-
(2013)
Nat Rev Genet
, vol.14
, pp. 295-300
-
-
Rehm, H.L.1
-
3
-
-
84877999280
-
Molecular genetic testing and the future of clinical genomics
-
COI: 1:CAS:528:DC%2BC3sXnslagsbk%3D, PID: 23681062
-
Katsanis SH, Katsanis N (2013) Molecular genetic testing and the future of clinical genomics. Nat Rev Genet 14:415–426
-
(2013)
Nat Rev Genet
, vol.14
, pp. 415-426
-
-
Katsanis, S.H.1
Katsanis, N.2
-
4
-
-
84864083351
-
Clinical application of exome sequencing in undiagnosed genetic conditions
-
COI: 1:CAS:528:DC%2BC38Xht1Sht7fI, PID: 22581936
-
Need AC, Shashi V, Hitomi Y, Schoch K, Shianna KV, McDonald MT, Meisler MH, Goldstein DB (2012) Clinical application of exome sequencing in undiagnosed genetic conditions. J Med Genet 49:353–361
-
(2012)
J Med Genet
, vol.49
, pp. 353-361
-
-
Need, A.C.1
Shashi, V.2
Hitomi, Y.3
Schoch, K.4
Shianna, K.V.5
McDonald, M.T.6
Meisler, M.H.7
Goldstein, D.B.8
-
5
-
-
75549084134
-
Personalized genomic information: preparing for the future of genetic medicine
-
COI: 1:CAS:528:DC%2BC3cXntVSnug%3D%3D, PID: 20065954
-
Guttmacher AE, McGuire AL, Ponder B, Stefansson K (2010) Personalized genomic information: preparing for the future of genetic medicine. Nat Rev Genet 11:161–165
-
(2010)
Nat Rev Genet
, vol.11
, pp. 161-165
-
-
Guttmacher, A.E.1
McGuire, A.L.2
Ponder, B.3
Stefansson, K.4
-
6
-
-
77955439715
-
Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing
-
COI: 1:CAS:528:DC%2BC3cXpt1ehsr0%3D, PID: 20616022
-
Walsh T, Lee MK, Casadei S, Thornton AM, Stray SM, Pennil C, Nord AS, Mandell JB, Swisher EM, King MC (2010) Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci USA 107:12629–12633
-
(2010)
Proc Natl Acad Sci USA
, vol.107
, pp. 12629-12633
-
-
Walsh, T.1
Lee, M.K.2
Casadei, S.3
Thornton, A.M.4
Stray, S.M.5
Pennil, C.6
Nord, A.S.7
Mandell, J.B.8
Swisher, E.M.9
King, M.C.10
-
7
-
-
84860910413
-
The predictive capacity of personal genome sequencing
-
PID: 22472521
-
Roberts NJ, Vogelstein JT, Parmigiani G, Kinzler KW, Vogelstein B, Velculescu VE (2012) The predictive capacity of personal genome sequencing. Sci Transl. Med 4:133ra58
-
(2012)
Sci Transl. Med
, vol.4
, pp. 133ra58
-
-
Roberts, N.J.1
Vogelstein, J.T.2
Parmigiani, G.3
Kinzler, K.W.4
Vogelstein, B.5
Velculescu, V.E.6
-
8
-
-
84873696289
-
Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles
-
Gracia-Aznarez FJ, Fernandez V, Pita G, Peterlongo P, Dominguez O, de la HM, Duran M, Osorio A, Moreno L, Gonzalez-Neira A, Rosa-Rosa JM, Sinilnikova O, Mazoyer S, Hopper J, Lazaro C, Southey M, Odefrey F, Manoukian S, Catucci I, Caldes T, Lynch HT, Hilbers FS, van Asperen CJ, Vasen HF, Goldgar D, Radice P, Devilee P, Benitez J (2013) Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles. PLoS One 8:e55681
-
(2013)
PLoS One
, vol.e55681
, pp. 8
-
-
Gracia-Aznarez, F.J.1
Fernandez, V.2
Pita, G.3
Peterlongo, P.4
Dominguez, O.5
de la, H.M.6
Duran, M.7
Osorio, A.8
Moreno, L.9
Gonzalez-Neira, A.10
Rosa-Rosa, J.M.11
Sinilnikova, O.12
Mazoyer, S.13
Hopper, J.14
Lazaro, C.15
Southey, M.16
Odefrey, F.17
Manoukian, S.18
Catucci, I.19
Caldes, T.20
Lynch, H.T.21
Hilbers, F.S.22
van Asperen, C.J.23
Vasen, H.F.24
Goldgar, D.25
Radice, P.26
Devilee, P.27
Benitez, J.28
more..
-
9
-
-
84879621918
-
Molecular genetics of breast and ovarian cancer: recent advances and clinical implications
-
COI: 1:CAS:528:DC%2BC38Xhs1ynu7fI, PID: 24052749
-
Bogdanova N, Dork T (2012) Molecular genetics of breast and ovarian cancer: recent advances and clinical implications. Balkan. J Med Genet 15:75–80
-
(2012)
Balkan. J Med Genet
, vol.15
, pp. 75-80
-
-
Bogdanova, N.1
Dork, T.2
-
10
-
-
33749039966
-
The CHEK2 gene and inherited breast cancer susceptibility
-
COI: 1:CAS:528:DC%2BD28XhtVSgurjP, PID: 16998506
-
Nevanlinna H, Bartek J (2006) The CHEK2 gene and inherited breast cancer susceptibility. Oncogene 25:5912–5919
-
(2006)
Oncogene
, vol.25
, pp. 5912-5919
-
-
Nevanlinna, H.1
Bartek, J.2
-
11
-
-
84870744620
-
CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer
-
Weischer M, Nordestgaard BG, Pharoah P, Bolla MK, Nevanlinna H, Van’t Veer LJ, Garcia-Closas M, Hopper JL, Hall P, Andrulis IL, Devilee P, Fasching PA, nton-Culver H, Lambrechts D, Hooning M, Cox A, Giles GG, Burwinkel B, Lindblom A, Couch FJ, Mannermaa A, Grenaker AG, John EM, Dork T, Flyger H, Dunning AM, Wang Q, Muranen TA, van HR, Figueroa J, Southey MC, Czene K, Knight JA, Tollenaar RA, Beckmann MW, Ziogas A, Christiaens MR, Collee JM, Reed MW, Severi G, Marme F, Margolin S, Olson JE, Kosma VM, Kristensen VN, Miron A, Bogdanova N, Shah M, Blomqvist C, Broeks A, Sherman M, Phillips KA, Li J, Liu J, Glendon G, Seynaeve C, Ekici AB, Leunen K, Kriege M, Cross SS, Baglietto L, Sohn C, Wang X, Kataja V, Borresen-Dale AL, Meyer A, Easton DF, Schmidt MK, Bojesen SE (2012) CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer. J Clin Oncol 30:4308–4316
-
(2012)
J Clin Oncol
, vol.30
, pp. 4308-4316
-
-
Weischer, M.1
Nordestgaard, B.G.2
Pharoah, P.3
Bolla, M.K.4
Nevanlinna, H.5
Van’t Veer, L.J.6
Garcia-Closas, M.7
Hopper, J.L.8
Hall, P.9
Andrulis, I.L.10
Devilee, P.11
Fasching, P.A.12
nton-Culver, H.13
Lambrechts, D.14
Hooning, M.15
Cox, A.16
Giles, G.G.17
Burwinkel, B.18
Lindblom, A.19
Couch, F.J.20
Mannermaa, A.21
Grenaker, A.G.22
John, E.M.23
Dork, T.24
Flyger, H.25
Dunning, A.M.26
Wang, Q.27
Muranen, T.A.28
van, H.R.29
Figueroa, J.30
Southey, M.C.31
Czene, K.32
Knight, J.A.33
Tollenaar, R.A.34
Beckmann, M.W.35
Ziogas, A.36
Christiaens, M.R.37
Collee, J.M.38
Reed, M.W.39
Severi, G.40
Marme, F.41
Margolin, S.42
Olson, J.E.43
Kosma, V.M.44
Kristensen, V.N.45
Miron, A.46
Bogdanova, N.47
Shah, M.48
Blomqvist, C.49
Broeks, A.50
Sherman, M.51
Phillips, K.A.52
Li, J.53
Liu, J.54
Glendon, G.55
Seynaeve, C.56
Ekici, A.B.57
Leunen, K.58
Kriege, M.59
Cross, S.S.60
Baglietto, L.61
Sohn, C.62
Wang, X.63
Kataja, V.64
Borresen-Dale, A.L.65
Meyer, A.66
Easton, D.F.67
Schmidt, M.K.68
Bojesen, S.E.69
more..
-
12
-
-
84885853847
-
Variants of uncertain significance in BRCA testing: evaluation of surgical decisions, risk perception, and cancer distress
-
COI: 1:CAS:528:DC%2BC3sXhs1Cms7%2FO, PID: 23323793
-
Culver J, Brinkerhoff C, Clague J, Yang K, Singh K, Sand S, Weitzel J (2013) Variants of uncertain significance in BRCA testing: evaluation of surgical decisions, risk perception, and cancer distress. Clin Genet 84:464–472
-
(2013)
Clin Genet
, vol.84
, pp. 464-472
-
-
Culver, J.1
Brinkerhoff, C.2
Clague, J.3
Yang, K.4
Singh, K.5
Sand, S.6
Weitzel, J.7
-
13
-
-
84920915919
-
Colorectal Cancer Screening (online). 2013. (cited 2013 November 8)
-
National Comprehensive Cancer Network Clinical Practice Guidelines in Oncology. Colorectal Cancer Screening (online). 2013. (cited 2013 November 8). National Comprehensive Cancer Network (2013)
-
(2013)
National Comprehensive Cancer Network
-
-
-
14
-
-
84886789083
-
The APC p. I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews
-
COI: 1:CAS:528:DC%2BC3sXhtF2hs7bK, PID: 23896379
-
Boursi B, Sella T, Liberman E, Shapira S, David M, Kazanov D, Arber N, Kraus S (2013) The APC p. I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews. Eur J Cancer 49:3680–3685
-
(2013)
Eur J Cancer
, vol.49
, pp. 3680-3685
-
-
Boursi, B.1
Sella, T.2
Liberman, E.3
Shapira, S.4
David, M.5
Kazanov, D.6
Arber, N.7
Kraus, S.8
-
15
-
-
33746216907
-
The I1307K APC polymorphism in Ashkenazi Jews with colorectal cancer: clinical and pathologic features
-
COI: 1:CAS:528:DC%2BD28XntlCktbo%3D, PID: 16875934
-
Locker GY, Kaul K, Weinberg DS, Gatalica Z, Gong G, Peterman A, Lynch J, Klatzco L, Olopade OI, Bomzer CA, Newlin A, Keenan E, Tajuddin M, Knezetic J, Coronel S, Lynch HT (2006) The I1307K APC polymorphism in Ashkenazi Jews with colorectal cancer: clinical and pathologic features. Cancer Genet Cytogenet 169:33–38
-
(2006)
Cancer Genet Cytogenet
, vol.169
, pp. 33-38
-
-
Locker, G.Y.1
Kaul, K.2
Weinberg, D.S.3
Gatalica, Z.4
Gong, G.5
Peterman, A.6
Lynch, J.7
Klatzco, L.8
Olopade, O.I.9
Bomzer, C.A.10
Newlin, A.11
Keenan, E.12
Tajuddin, M.13
Knezetic, J.14
Coronel, S.15
Lynch, H.T.16
-
16
-
-
33745903402
-
MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype
-
COI: 1:CAS:528:DC%2BD28XntVeqt78%3D, PID: 16557584
-
Aretz S, Uhlhaas S, Goergens H, Siberg K, Vogel M, Pagenstecher C, Mangold E, Caspari R, Propping P, Friedl W (2006) MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. Int J Cancer 119:807–814
-
(2006)
Int J Cancer
, vol.119
, pp. 807-814
-
-
Aretz, S.1
Uhlhaas, S.2
Goergens, H.3
Siberg, K.4
Vogel, M.5
Pagenstecher, C.6
Mangold, E.7
Caspari, R.8
Propping, P.9
Friedl, W.10
-
17
-
-
33644747476
-
Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study
-
COI: 1:CAS:528:DC%2BD28Xhs1Wrt74%3D, PID: 16492921
-
Jenkins MA, Croitoru ME, Monga N, Cleary SP, Cotterchio M, Hopper JL, Gallinger S (2006) Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study. Cancer Epidemiol Biomarkers Prev 15:312–314
-
(2006)
Cancer Epidemiol Biomarkers Prev
, vol.15
, pp. 312-314
-
-
Jenkins, M.A.1
Croitoru, M.E.2
Monga, N.3
Cleary, S.P.4
Cotterchio, M.5
Hopper, J.L.6
Gallinger, S.7
-
18
-
-
80052266917
-
Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer
-
COI: 1:CAS:528:DC%2BC3MXhtFSjsb%2FF, PID: 21171015
-
Win AK, Cleary SP, Dowty JG, Baron JA, Young JP, Buchanan DD, Southey MC, Burnett T, Parfrey PS, Green RC, Le ML, Newcomb PA, Haile RW, Lindor NM, Hopper JL, Gallinger S, Jenkins MA (2011) Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer. Int J Cancer 129:2256–2262
-
(2011)
Int J Cancer
, vol.129
, pp. 2256-2262
-
-
Win, A.K.1
Cleary, S.P.2
Dowty, J.G.3
Baron, J.A.4
Young, J.P.5
Buchanan, D.D.6
Southey, M.C.7
Burnett, T.8
Parfrey, P.S.9
Green, R.C.10
Le, M.L.11
Newcomb, P.A.12
Haile, R.W.13
Lindor, N.M.14
Hopper, J.L.15
Gallinger, S.16
Jenkins, M.A.17
-
19
-
-
84859633140
-
MutYH mutation carriers have increased breast cancer risk
-
COI: 1:CAS:528:DC%2BC38XltVOrur0%3D, PID: 21952991
-
Rennert G, Lejbkowicz F, Cohen I, Pinchev M, Rennert HS, Barnett-Griness O (2012) MutYH mutation carriers have increased breast cancer risk. Cancer 118:1989–1993
-
(2012)
Cancer
, vol.118
, pp. 1989-1993
-
-
Rennert, G.1
Lejbkowicz, F.2
Cohen, I.3
Pinchev, M.4
Rennert, H.S.5
Barnett-Griness, O.6
-
20
-
-
79951853919
-
Association between monoallelic MUTYH mutation and colorectal cancer risk: a meta-regression analysis
-
PID: 21061173
-
Win AK, Hopper JL, Jenkins MA (2011) Association between monoallelic MUTYH mutation and colorectal cancer risk: a meta-regression analysis. Fam Cancer 10:1–9
-
(2011)
Fam Cancer
, vol.10
, pp. 1-9
-
-
Win, A.K.1
Hopper, J.L.2
Jenkins, M.A.3
-
21
-
-
84863987457
-
MUTYH gene variants and breast cancer in a Dutch case-control study
-
COI: 1:CAS:528:DC%2BC38XhtVGhtrjF, PID: 22297469
-
Out AA, Wasielewski M, Huijts PE, van Minderhout IJ, Houwing-Duistermaat JJ, Tops CM, Nielsen M, Seynaeve C, Wijnen JT, Breuning MH, van Asperen CJ, Schutte M, Hes FJ, Devilee P (2012) MUTYH gene variants and breast cancer in a Dutch case-control study. Breast Cancer Res Treat 134:219–227
-
(2012)
Breast Cancer Res Treat
, vol.134
, pp. 219-227
-
-
Out, A.A.1
Wasielewski, M.2
Huijts, P.E.3
van Minderhout, I.J.4
Houwing-Duistermaat, J.J.5
Tops, C.M.6
Nielsen, M.7
Seynaeve, C.8
Wijnen, J.T.9
Breuning, M.H.10
van Asperen, C.J.11
Schutte, M.12
Hes, F.J.13
Devilee, P.14
-
22
-
-
84873412474
-
International Cancer of the Pancreas Screening (CAPS) consortium summit on the management of patients with increased risk for familial pancreatic cancer
-
PID: 23135763
-
Canto MI, Harinck F, Hruban RH, Offerhaus GJ, Poley JW, Kamel I, Nio Y, Schulick RS, Bassi C, Kluijt I, Levy MJ, Chak A, Fockens P, Goggins M, Bruno M (2013) International Cancer of the Pancreas Screening (CAPS) consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut 62:339–347
-
(2013)
Gut
, vol.62
, pp. 339-347
-
-
Canto, M.I.1
Harinck, F.2
Hruban, R.H.3
Offerhaus, G.J.4
Poley, J.W.5
Kamel, I.6
Nio, Y.7
Schulick, R.S.8
Bassi, C.9
Kluijt, I.10
Levy, M.J.11
Chak, A.12
Fockens, P.13
Goggins, M.14
Bruno, M.15
-
23
-
-
79952741549
-
Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer
-
COI: 1:CAS:528:DC%2BC3MXjtFWgtL0%3D, PID: 21285249
-
Casadei S, Norquist BM, Walsh T, Stray S, Mandell JB, Lee MK, Stamatoyannopoulos JA, King MC (2011) Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. Cancer Res 71:2222–2229
-
(2011)
Cancer Res
, vol.71
, pp. 2222-2229
-
-
Casadei, S.1
Norquist, B.M.2
Walsh, T.3
Stray, S.4
Mandell, J.B.5
Lee, M.K.6
Stamatoyannopoulos, J.A.7
King, M.C.8
-
24
-
-
84904252631
-
-
Fecteau H, Vogel KJ, Hanson K, Morrill-Cornelius S (2014) The evolution of cancer risk assessment in the era of next generation sequencing. J Genet Couns 23(4):633–639
-
Fecteau H, Vogel KJ, Hanson K, Morrill-Cornelius S (2014) The evolution of cancer risk assessment in the era of next generation sequencing. J Genet Couns 23(4):633–639
-
-
-
-
25
-
-
84920915917
-
-
Association for Molecular Pathology v. Myriad Genetics, Inc (US) (2013) , 11-8-2013
-
Association for Molecular Pathology v. Myriad Genetics, Inc (US) (2013) www.supremecourt.gov/opinions/12pdf/12-398_1b7d.pdf, 11-8-2013
-
-
-
-
26
-
-
84983783574
-
Current variant of uncertain significance rate in BRCA1/2 and Lynch Syndrome testing (MLH1, MSH2, MSH6, PMS2, EPCAM)
-
Eggington JM, Burbridge LA, Roa BB, Pruss D, Bowles K, Rosenthal E, Esterling L, Wenstrup RJ (2012) Current variant of uncertain significance rate in BRCA1/2 and Lynch Syndrome testing (MLH1, MSH2, MSH6, PMS2, EPCAM). Presented American College of medical genetics and genomics annual meeting 2012
-
(2012)
Presented American College of medical genetics and genomics annual meeting
, pp. 2012
-
-
Eggington, J.M.1
Burbridge, L.A.2
Roa, B.B.3
Pruss, D.4
Bowles, K.5
Rosenthal, E.6
Esterling, L.7
Wenstrup, R.J.8
-
28
-
-
0038501057
-
-
(2003) American Society of clinical oncology policy statement update: genetic testing for cancer susceptibility. J Clin Oncol 21:2397–2406
-
(2003) American Society of clinical oncology policy statement update: genetic testing for cancer susceptibility. J Clin Oncol 21:2397–2406
-
-
-
-
29
-
-
77952982796
-
Genetic/familial high-risk assessment: breast and ovarian
-
COI: 1:CAS:528:DC%2BC3cXns1eqtLs%3D, PID: 20495085
-
Daly MB, Axilbund JE, Buys S, Crawford B, Farrell CD, Friedman S, Garber JE, Goorha S, Gruber SB, Hampel H, Kaklamani V, Kohlmann W, Kurian A, Litton J, Marcom PK, Nussbaum R, Offit K, Pal T, Pasche B, Pilarski R, Reiser G, Shannon KM, Smith JR, Swisher E, Weitzel JN (2010) Genetic/familial high-risk assessment: breast and ovarian. J Natl Compr Canc Netw 8:562–594
-
(2010)
J Natl Compr Canc Netw
, vol.8
, pp. 562-594
-
-
Daly, M.B.1
Axilbund, J.E.2
Buys, S.3
Crawford, B.4
Farrell, C.D.5
Friedman, S.6
Garber, J.E.7
Goorha, S.8
Gruber, S.B.9
Hampel, H.10
Kaklamani, V.11
Kohlmann, W.12
Kurian, A.13
Litton, J.14
Marcom, P.K.15
Nussbaum, R.16
Offit, K.17
Pal, T.18
Pasche, B.19
Pilarski, R.20
Reiser, G.21
Shannon, K.M.22
Smith, J.R.23
Swisher, E.24
Weitzel, J.N.25
more..
|