-
1
-
-
59849129653
-
EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome
-
G.E. Palomaki, M.R. McClain, S. Melillo, and et al. EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome Genet Med 11 2009 42 65
-
(2009)
Genet Med
, vol.11
, pp. 42-65
-
-
Palomaki, G.E.1
McClain, M.R.2
Melillo, S.3
-
2
-
-
84876900933
-
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): Recommendations by a group of European experts
-
H.F. Vasen, I. Blanco, K. Aktan-Collan, and et al. Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts Gut 62 2013 812 823
-
(2013)
Gut
, vol.62
, pp. 812-823
-
-
Vasen, H.F.1
Blanco, I.2
Aktan-Collan, K.3
-
3
-
-
84894268890
-
Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: A systematic review to update the U.S. Preventive Services Task Force recommendation
-
H.D. Nelson, M. Pappas, B. Zakher, and et al. Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: a systematic review to update the U.S. Preventive Services Task Force recommendation Ann Intern Med 160 2014 255 266
-
(2014)
Ann Intern Med
, vol.160
, pp. 255-266
-
-
Nelson, H.D.1
Pappas, M.2
Zakher, B.3
-
4
-
-
0034011564
-
Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer
-
H.J. Jarvinen, M. Aarnio, H. Mustonen, and et al. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer Gastroenterology 118 2000 829 834
-
(2000)
Gastroenterology
, vol.118
, pp. 829-834
-
-
Jarvinen, H.J.1
Aarnio, M.2
Mustonen, H.3
-
5
-
-
84860605783
-
Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: A prospective cohort study
-
A.K. Win, J.P. Young, N.M. Lindor, and et al. Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study J Clin Oncol 30 2012 958 964
-
(2012)
J Clin Oncol
, vol.30
, pp. 958-964
-
-
Win, A.K.1
Young, J.P.2
Lindor, N.M.3
-
6
-
-
70350733425
-
Risk of pancreatic cancer in families with Lynch syndrome
-
F. Kastrinos, B. Mukherjee, N. Tayob, and et al. Risk of pancreatic cancer in families with Lynch syndrome JAMA 302 2009 1790 1795
-
(2009)
JAMA
, vol.302
, pp. 1790-1795
-
-
Kastrinos, F.1
Mukherjee, B.2
Tayob, N.3
-
7
-
-
84876071726
-
Multiplex genetic testing for cancer susceptibility: Out on the high wire without a net?
-
S.M. Domchek, A. Bradbury, J.E. Garber, and et al. Multiplex genetic testing for cancer susceptibility: out on the high wire without a net? J Clin Oncol 31 2013 1267 1270
-
(2013)
J Clin Oncol
, vol.31
, pp. 1267-1270
-
-
Domchek, S.M.1
Bradbury, A.2
Garber, J.E.3
-
8
-
-
84872071989
-
Comparison of the clinical prediction model PREMM(1,2,6) and molecular testing for the systematic identification of Lynch syndrome in colorectal cancer
-
F. Kastrinos, E.W. Steyerberg, J. Balmana, and et al. Comparison of the clinical prediction model PREMM(1,2,6) and molecular testing for the systematic identification of Lynch syndrome in colorectal cancer Gut 62 2013 272 279
-
(2013)
Gut
, vol.62
, pp. 272-279
-
-
Kastrinos, F.1
Steyerberg, E.W.2
Balmana, J.3
-
9
-
-
79955009383
-
Underutilization of BRCA1/2 testing to guide breast cancer treatment: Black and Hispanic women particularly at risk
-
D.E. Levy, S.D. Byfield, C.B. Comstock, and et al. Underutilization of BRCA1/2 testing to guide breast cancer treatment: black and Hispanic women particularly at risk Genet Med 13 2011 349 355
-
(2011)
Genet Med
, vol.13
, pp. 349-355
-
-
Levy, D.E.1
Byfield, S.D.2
Comstock, C.B.3
-
10
-
-
20244386256
-
Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: Familial colorectal cancer type X
-
N.M. Lindor, K. Rabe, G.M. Petersen, and et al. Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X JAMA 293 2005 1979 1985
-
(2005)
JAMA
, vol.293
, pp. 1979-1985
-
-
Lindor, N.M.1
Rabe, K.2
Petersen, G.M.3
-
11
-
-
51849147419
-
Comparison of predictive models, clinical criteria and molecular tumour screening for the identification of patients with Lynch syndrome in a population-based cohort of colorectal cancer patients
-
J. Balmana, F. Balaguer, S. Castellvi-Bel, and et al. Comparison of predictive models, clinical criteria and molecular tumour screening for the identification of patients with Lynch syndrome in a population-based cohort of colorectal cancer patients J Med Genet 45 2008 557 563
-
(2008)
J Med Genet
, vol.45
, pp. 557-563
-
-
Balmana, J.1
Balaguer, F.2
Castellvi-Bel, S.3
-
12
-
-
78650513224
-
The PREMM(1,2,6) model predicts risk of MLH1, MSH2, and MSH6 germline mutations based on cancer history
-
F. Kastrinos, E.W. Steyerberg, R. Mercado, and et al. The PREMM(1,2,6) model predicts risk of MLH1, MSH2, and MSH6 germline mutations based on cancer history Gastroenterology 140 2011 73 81
-
(2011)
Gastroenterology
, vol.140
, pp. 73-81
-
-
Kastrinos, F.1
Steyerberg, E.W.2
Mercado, R.3
-
13
-
-
84908553713
-
Biallelic MUTYH mutations can mimic Lynch syndrome
-
M. Morak, B. Heidenreich, G. Keller, and et al. Biallelic MUTYH mutations can mimic Lynch syndrome Eur J Hum Genet 22 2014 1334 1337
-
(2014)
Eur J Hum Genet
, vol.22
, pp. 1334-1337
-
-
Morak, M.1
Heidenreich, B.2
Keller, G.3
-
14
-
-
84886057665
-
PTEN germline mutations in patients initially tested for other hereditary cancer syndromes: Would use of risk assessment tools reduce genetic testing?
-
J.L. Mester, R.A. Moore, and C. Eng PTEN germline mutations in patients initially tested for other hereditary cancer syndromes: would use of risk assessment tools reduce genetic testing? Oncologist 18 2013 1083 1090
-
(2013)
Oncologist
, vol.18
, pp. 1083-1090
-
-
Mester, J.L.1
Moore, R.A.2
Eng, C.3
-
15
-
-
79952183867
-
Genetic counseling considerations in the evaluation of families for Lynch syndrome - A review
-
S.M. Weissman, C. Bellcross, C.C. Bittner, and et al. Genetic counseling considerations in the evaluation of families for Lynch syndrome-a review J Genet Couns 20 2011 5 19
-
(2011)
J Genet Couns
, vol.20
, pp. 5-19
-
-
Weissman, S.M.1
Bellcross, C.2
Bittner, C.C.3
-
16
-
-
84905126480
-
Prevalence of germline MUTYH mutations among Lynch-like syndrome patients
-
A. Castillejo, G. Vargas, M.I. Castillejo, and et al. Prevalence of germline MUTYH mutations among Lynch-like syndrome patients Eur J Cancer 50 2014 2241 2250
-
(2014)
Eur J Cancer
, vol.50
, pp. 2241-2250
-
-
Castillejo, A.1
Vargas, G.2
Castillejo, M.I.3
-
18
-
-
65649112508
-
BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer
-
M.J. Hall, J.E. Reid, L.A. Burbidge, and et al. BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer Cancer 115 2009 2222 2233
-
(2009)
Cancer
, vol.115
, pp. 2222-2233
-
-
Hall, M.J.1
Reid, J.E.2
Burbidge, L.A.3
-
19
-
-
84907597238
-
A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes
-
J.M. Eggington, K.R. Bowles, K. Moyes, and et al. A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes Clin Genet 86 2014 229 237
-
(2014)
Clin Genet
, vol.86
, pp. 229-237
-
-
Eggington, J.M.1
Bowles, K.R.2
Moyes, K.3
-
20
-
-
42149139456
-
ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
-
C.S. Richards, S. Bale, D.B. Bellissimo, and et al. ACMG recommendations for standards for interpretation and reporting of sequence variations: revisions 2007 Genet Med 10 2008 294 300
-
(2008)
Genet Med
, vol.10
, pp. 294-300
-
-
Richards, C.S.1
Bale, S.2
Bellissimo, D.B.3
-
21
-
-
33746491583
-
ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles
-
A. Renwick, D. Thompson, S. Seal, and et al. ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles Nat Genet 38 2006 873 875
-
(2006)
Nat Genet
, vol.38
, pp. 873-875
-
-
Renwick, A.1
Thompson, D.2
Seal, S.3
-
22
-
-
84902544333
-
Familial colorectal cancer, beyond Lynch syndrome
-
E.M. Stoffel, and F. Kastrinos Familial colorectal cancer, beyond Lynch syndrome Clin Gastroenterol Hepatol 12 2014 1059 1068
-
(2014)
Clin Gastroenterol Hepatol
, vol.12
, pp. 1059-1068
-
-
Stoffel, E.M.1
Kastrinos, F.2
-
23
-
-
84864607654
-
Genetic testing by cancer site: Stomach
-
N. Chun, and J.M. Ford Genetic testing by cancer site: stomach Cancer J 18 2012 355 363
-
(2012)
Cancer J
, vol.18
, pp. 355-363
-
-
Chun, N.1
Ford, J.M.2
-
24
-
-
84864143250
-
Risk of non-melanoma cancers in first-degree relatives of CDKN2A mutation carriers
-
B. Mukherjee, J.O. Delancey, L. Raskin, and et al. Risk of non-melanoma cancers in first-degree relatives of CDKN2A mutation carriers J Natl Cancer Inst 104 2012 953 956
-
(2012)
J Natl Cancer Inst
, vol.104
, pp. 953-956
-
-
Mukherjee, B.1
Delancey, J.O.2
Raskin, L.3
-
25
-
-
77956309446
-
Genome-wide association studies of cancer
-
Z.K. Stadler, P. Thom, M.E. Robson, and et al. Genome-wide association studies of cancer J Clin Oncol 28 2010 4255 4267
-
(2010)
J Clin Oncol
, vol.28
, pp. 4255-4267
-
-
Stadler, Z.K.1
Thom, P.2
Robson, M.E.3
-
26
-
-
84859606763
-
Evidence for accelerated colorectal adenoma-carcinoma progression in MUTYH-associated polyposis?
-
M.H. Nieuwenhuis, S. Vogt, N. Jones, and et al. Evidence for accelerated colorectal adenoma-carcinoma progression in MUTYH-associated polyposis? Gut 61 2012 734 738
-
(2012)
Gut
, vol.61
, pp. 734-738
-
-
Nieuwenhuis, M.H.1
Vogt, S.2
Jones, N.3
-
27
-
-
84899413123
-
Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer
-
e1-e5
-
A.K. Win, J.G. Dowty, S.P. Cleary, and et al. Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer Gastroenterology 146 2014 1208 1211 e1-e5
-
(2014)
Gastroenterology
, vol.146
, pp. 1208-1211
-
-
Win, A.K.1
Dowty, J.G.2
Cleary, S.P.3
-
28
-
-
84859250601
-
MUTYH hotspot mutations in unselected colonoscopy patients
-
M. Casper, G. Plotz, B. Juengling, and et al. MUTYH hotspot mutations in unselected colonoscopy patients Colorectal Dis 14 2012 e238 e244
-
(2012)
Colorectal Dis
, vol.14
, pp. e238-e244
-
-
Casper, M.1
Plotz, G.2
Juengling, B.3
-
29
-
-
69849112388
-
Clinical implications of the colorectal cancer risk associated with MUTYH mutation
-
S.J. Lubbe, M.C. Di Bernardo, I.P. Chandler, and et al. Clinical implications of the colorectal cancer risk associated with MUTYH mutation J Clin Oncol 27 2009 3975 3980
-
(2009)
J Clin Oncol
, vol.27
, pp. 3975-3980
-
-
Lubbe, S.J.1
Di Bernardo, M.C.2
Chandler, I.P.3
-
30
-
-
80052266917
-
Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer
-
A.K. Win, S.P. Cleary, J.G. Dowty, and et al. Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer Int J Cancer 129 2011 2256 2262
-
(2011)
Int J Cancer
, vol.129
, pp. 2256-2262
-
-
Win, A.K.1
Cleary, S.P.2
Dowty, J.G.3
-
31
-
-
7944225535
-
Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk
-
M.E. Croitoru, S.P. Cleary, N. Di Nicola, and et al. Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk J Natl Cancer Inst 96 2004 1631 1634
-
(2004)
J Natl Cancer Inst
, vol.96
, pp. 1631-1634
-
-
Croitoru, M.E.1
Cleary, S.P.2
Di Nicola, N.3
-
32
-
-
67650979375
-
Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH
-
494 e1; quiz 725-726
-
N. Jones, S. Vogt, M. Nielsen, and et al. Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH Gastroenterology 137 2009 489 494 494 e1; quiz 725-726
-
(2009)
Gastroenterology
, vol.137
, pp. 489-494
-
-
Jones, N.1
Vogt, S.2
Nielsen, M.3
-
33
-
-
33947280508
-
Identification of MYH mutation carriers in colorectal cancer: A multicenter, case-control, population-based study
-
F. Balaguer, S. Castellvi-Bel, A. Castells, and et al. Identification of MYH mutation carriers in colorectal cancer: a multicenter, case-control, population-based study Clin Gastroenterol Hepatol 5 2007 379 387
-
(2007)
Clin Gastroenterol Hepatol
, vol.5
, pp. 379-387
-
-
Balaguer, F.1
Castellvi-Bel, S.2
Castells, A.3
-
34
-
-
14044276307
-
Colorectal cancer risk in individuals with biallelic or monoallelic mutations of MYH
-
P. Peterlongo, N. Mitra, S. Chuai, and et al. Colorectal cancer risk in individuals with biallelic or monoallelic mutations of MYH Int J Cancer 114 2005 505 507
-
(2005)
Int J Cancer
, vol.114
, pp. 505-507
-
-
Peterlongo, P.1
Mitra, N.2
Chuai, S.3
-
35
-
-
84905822972
-
Multigene panel testing: Planning the next generation of research studies in clinical cancer genetics
-
M. Robson Multigene panel testing: planning the next generation of research studies in clinical cancer genetics J Clin Oncol 32 2014 1987 1989
-
(2014)
J Clin Oncol
, vol.32
, pp. 1987-1989
-
-
Robson, M.1
-
36
-
-
84939251973
-
Panel-based testing for inherited colorectal cancer: A descriptive study of clinical testing performed by a US laboratory
-
D. Cragun, C. Radford, J.S. Dolinsky, and et al. Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory Clin Genet 86 2014 510 520
-
(2014)
Clin Genet
, vol.86
, pp. 510-520
-
-
Cragun, D.1
Radford, C.2
Dolinsky, J.S.3
-
37
-
-
81055126264
-
Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing
-
T. Walsh, S. Casadei, M.K. Lee, and et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing Proc Natl Acad Sci U S A 108 2011 18032 18037
-
(2011)
Proc Natl Acad Sci U S A
, vol.108
, pp. 18032-18037
-
-
Walsh, T.1
Casadei, S.2
Lee, M.K.3
-
38
-
-
84904750123
-
Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment
-
A.W. Kurian, E.E. Hare, M.A. Mills, and et al. Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment J Clin Oncol 32 2014 2001 2009
-
(2014)
J Clin Oncol
, vol.32
, pp. 2001-2009
-
-
Kurian, A.W.1
Hare, E.E.2
Mills, M.A.3
-
39
-
-
84918798338
-
Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel
-
N. Tung, C. Battelli, B. Allen, and et al. Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel Cancer 121 2015 25 33
-
(2015)
Cancer
, vol.121
, pp. 25-33
-
-
Tung, N.1
Battelli, C.2
Allen, B.3
-
40
-
-
0030910022
-
The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews
-
J.P. Struewing, P. Hartge, S. Wacholder, and et al. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews N Engl J Med 336 1997 1401 1408
-
(1997)
N Engl J Med
, vol.336
, pp. 1401-1408
-
-
Struewing, J.P.1
Hartge, P.2
Wacholder, S.3
-
41
-
-
75749096049
-
Screening for founder mutations in BRCA1 and BRCA2 in unselected Jewish women
-
K.A. Metcalfe, A. Poll, R. Royer, and et al. Screening for founder mutations in BRCA1 and BRCA2 in unselected Jewish women J Clin Oncol 28 2010 387 391
-
(2010)
J Clin Oncol
, vol.28
, pp. 387-391
-
-
Metcalfe, K.A.1
Poll, A.2
Royer, R.3
-
42
-
-
0029794992
-
Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2
-
B.B. Roa, A.A. Boyd, K. Volcik, and et al. Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2 Nat Genet 14 1996 185 187
-
(1996)
Nat Genet
, vol.14
, pp. 185-187
-
-
Roa, B.B.1
Boyd, A.A.2
Volcik, K.3
-
43
-
-
12144274336
-
Adjusting the estimated proportion of breast cancer cases associated with BRCA1 and BRCA2 mutations: Public health implications
-
M.R. McClain, G.E. Palomaki, K.L. Nathanson, and et al. Adjusting the estimated proportion of breast cancer cases associated with BRCA1 and BRCA2 mutations: public health implications Genet Med 7 2005 28 33
-
(2005)
Genet Med
, vol.7
, pp. 28-33
-
-
McClain, M.R.1
Palomaki, G.E.2
Nathanson, K.L.3
-
44
-
-
0842302523
-
One less thing to worry about: The shrinking spectrum of tumors in BRCA founder mutation carriers
-
J.E. Garber, and S. Syngal One less thing to worry about: the shrinking spectrum of tumors in BRCA founder mutation carriers J Natl Cancer Inst 96 2004 2 3
-
(2004)
J Natl Cancer Inst
, vol.96
, pp. 2-3
-
-
Garber, J.E.1
Syngal, S.2
-
45
-
-
0033063711
-
New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC
-
H.F. Vasen, P. Watson, J.P. Mecklin, and et al. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC Gastroenterology 116 1999 1453 1456
-
(1999)
Gastroenterology
, vol.116
, pp. 1453-1456
-
-
Vasen, H.F.1
Watson, P.2
Mecklin, J.P.3
-
46
-
-
77956110372
-
Hereditary diffuse gastric cancer: Updated consensus guidelines for clinical management and directions for future research
-
R.C. Fitzgerald, R. Hardwick, D. Huntsman, and et al. Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research J Med Genet 47 2010 436 444
-
(2010)
J Med Genet
, vol.47
, pp. 436-444
-
-
Fitzgerald, R.C.1
Hardwick, R.2
Huntsman, D.3
-
48
-
-
84937143656
-
Next-generation sequencing panels for the diagnosis of colorectal cancer and polyposis syndromes: A cost-effectiveness analysis
-
C.J. Gallego, B.H. Shirts, C.S. Bennette, and et al. Next-generation sequencing panels for the diagnosis of colorectal cancer and polyposis syndromes: a cost-effectiveness analysis J Clin Oncol 33 2015 2084 2091
-
(2015)
J Clin Oncol
, vol.33
, pp. 2084-2091
-
-
Gallego, C.J.1
Shirts, B.H.2
Bennette, C.S.3
-
49
-
-
84883873822
-
Population-based molecular screening for Lynch syndrome: Implications for personalized medicine
-
R.L. Ward, S. Hicks, and N.J. Hawkins Population-based molecular screening for Lynch syndrome: implications for personalized medicine J Clin Oncol 31 2013 2554 2562
-
(2013)
J Clin Oncol
, vol.31
, pp. 2554-2562
-
-
Ward, R.L.1
Hicks, S.2
Hawkins, N.J.3
-
50
-
-
84919326756
-
Comparing universal Lynch syndrome tumor-screening programs to evaluate associations between implementation strategies and patient follow-through
-
D. Cragun, R.D. DeBate, S.T. Vadaparampil, and et al. Comparing universal Lynch syndrome tumor-screening programs to evaluate associations between implementation strategies and patient follow-through Genet Med 16 2014 773 782
-
(2014)
Genet Med
, vol.16
, pp. 773-782
-
-
Cragun, D.1
DeBate, R.D.2
Vadaparampil, S.T.3
-
51
-
-
84862530392
-
Reflex immunohistochemistry and microsatellite instability testing of colorectal tumors for Lynch syndrome among US cancer programs and follow-up of abnormal results
-
L.C. Beamer, M.L. Grant, C.R. Espenschied, and et al. Reflex immunohistochemistry and microsatellite instability testing of colorectal tumors for Lynch syndrome among US cancer programs and follow-up of abnormal results J Clin Oncol 30 2012 1058 1063
-
(2012)
J Clin Oncol
, vol.30
, pp. 1058-1063
-
-
Beamer, L.C.1
Grant, M.L.2
Espenschied, C.R.3
-
52
-
-
84867499525
-
Identification of Lynch syndrome among patients with colorectal cancer
-
L. Moreira, F. Balaguer, N. Lindor, and et al. Identification of Lynch syndrome among patients with colorectal cancer JAMA 308 2012 1555 1565
-
(2012)
JAMA
, vol.308
, pp. 1555-1565
-
-
Moreira, L.1
Balaguer, F.2
Lindor, N.3
-
53
-
-
84860555035
-
Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer
-
L. Perez-Carbonell, C. Ruiz-Ponte, C. Guarinos, and et al. Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer Gut 61 2012 865 872
-
(2012)
Gut
, vol.61
, pp. 865-872
-
-
Perez-Carbonell, L.1
Ruiz-Ponte, C.2
Guarinos, C.3
-
54
-
-
57449097359
-
Feasibility of screening for Lynch syndrome among patients with colorectal cancer
-
H. Hampel, W.L. Frankel, E. Martin, and et al. Feasibility of screening for Lynch syndrome among patients with colorectal cancer J Clin Oncol 26 2008 5783 5788
-
(2008)
J Clin Oncol
, vol.26
, pp. 5783-5788
-
-
Hampel, H.1
Frankel, W.L.2
Martin, E.3
-
57
-
-
67649884743
-
Fast and accurate short read alignment with Burrows-Wheeler transform
-
H. Li, and R. Durbin Fast and accurate short read alignment with Burrows-Wheeler transform Bioinformatics 25 2009 1754 1760
-
(2009)
Bioinformatics
, vol.25
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
58
-
-
84907597238
-
A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes
-
J.M. Eggington, K.R. Bowles, K. Moyes, and et al. A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes Clin Genet 86 2014 229 237
-
(2014)
Clin Genet
, vol.86
, pp. 229-237
-
-
Eggington, J.M.1
Bowles, K.R.2
Moyes, K.3
-
59
-
-
42149139456
-
ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
-
C.S. Richards, S. Bale, D.B. Bellissimo, and et al. ACMG recommendations for standards for interpretation and reporting of sequence variations: revisions 2007 Genet Med 10 2008 294 300
-
(2008)
Genet Med
, vol.10
, pp. 294-300
-
-
Richards, C.S.1
Bale, S.2
Bellissimo, D.B.3
-
60
-
-
0036478899
-
Inherited variants of MYH associated with somatic G: C - >t: A mutations in colorectal tumors
-
N. Al-Tassan, N.H. Chmiel, J. Maynard, and et al. Inherited variants of MYH associated with somatic G: C - >T: A mutations in colorectal tumors Nat Genet 30 2002 227 232
-
(2002)
Nat Genet
, vol.30
, pp. 227-232
-
-
Al-Tassan, N.1
Chmiel, N.H.2
Maynard, J.3
-
61
-
-
0036848267
-
Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G: C - >t: A mutations
-
S. Jones, P. Emmerson, J. Maynard, and et al. Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G: C - >T: A mutations Hum Mol Genet 11 2002 2961 2967
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2961-2967
-
-
Jones, S.1
Emmerson, P.2
Maynard, J.3
-
63
-
-
34248572591
-
Structure of the human MutSalpha DNA lesion recognition complex
-
J.J. Warren, T.J. Pohlhaus, A. Changela, and et al. Structure of the human MutSalpha DNA lesion recognition complex Mol Cell 26 2007 579 592
-
(2007)
Mol Cell
, vol.26
, pp. 579-592
-
-
Warren, J.J.1
Pohlhaus, T.J.2
Changela, A.3
-
64
-
-
55549137442
-
Genetic evidence and integration of various data sources for classifying uncertain variants into a single model
-
D.E. Goldgar, D.F. Easton, G.B. Byrnes, and et al. Genetic evidence and integration of various data sources for classifying uncertain variants into a single model Hum Mutat 29 2008 1265 1272
-
(2008)
Hum Mutat
, vol.29
, pp. 1265-1272
-
-
Goldgar, D.E.1
Easton, D.F.2
Byrnes, G.B.3
-
65
-
-
35348834779
-
A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes
-
D.F. Easton, A.M. Deffenbaugh, D. Pruss, and et al. A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes Am J Hum Genet 81 2007 873 883
-
(2007)
Am J Hum Genet
, vol.81
, pp. 873-883
-
-
Easton, D.F.1
Deffenbaugh, A.M.2
Pruss, D.3
-
66
-
-
19144365420
-
Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16
-
J. Wijnen, P.M. Khan, H. Vasen, and et al. Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16 Am J Hum Genet 58 1996 300 307
-
(1996)
Am J Hum Genet
, vol.58
, pp. 300-307
-
-
Wijnen, J.1
Khan, P.M.2
Vasen, H.3
-
67
-
-
33644546026
-
Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants
-
C. Pagenstecher, M. Wehner, W. Friedl, and et al. Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants Hum Genet 119 2006 9 22
-
(2006)
Hum Genet
, vol.119
, pp. 9-22
-
-
Pagenstecher, C.1
Wehner, M.2
Friedl, W.3
-
68
-
-
0041664997
-
Pathogenicity of the hereditary colorectal cancer mutation hMLH1 del616 linked to shortage of the functional protein
-
T.E. Raevaara, C. Vaccaro, W.M. Abdel-Rahman, and et al. Pathogenicity of the hereditary colorectal cancer mutation hMLH1 del616 linked to shortage of the functional protein Gastroenterology 125 2003 501 509
-
(2003)
Gastroenterology
, vol.125
, pp. 501-509
-
-
Raevaara, T.E.1
Vaccaro, C.2
Abdel-Rahman, W.M.3
-
69
-
-
0028106776
-
HMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds
-
B. Liu, R.E. Parsons, S.R. Hamilton, and et al. hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds Cancer Res 54 1994 4590 4594
-
(1994)
Cancer Res
, vol.54
, pp. 4590-4594
-
-
Liu, B.1
Parsons, R.E.2
Hamilton, S.R.3
-
70
-
-
33645454806
-
Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli
-
G. Aceto, M.C. Curia, S. Veschi, and et al. Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli Hum Mutat 26 2005 394
-
(2005)
Hum Mutat
, vol.26
, pp. 394
-
-
Aceto, G.1
Curia, M.C.2
Veschi, S.3
-
71
-
-
33645244368
-
Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients
-
A.M. Russell, J. Zhang, J. Luz, and et al. Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients Int J Cancer 118 2006 1937 1940
-
(2006)
Int J Cancer
, vol.118
, pp. 1937-1940
-
-
Russell, A.M.1
Zhang, J.2
Luz, J.3
-
72
-
-
32544453369
-
Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing
-
J. Auclair, M.P. Busine, C. Navarro, and et al. Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing Hum Mutat 27 2006 145 154
-
(2006)
Hum Mutat
, vol.27
, pp. 145-154
-
-
Auclair, J.1
Busine, M.P.2
Navarro, C.3
-
73
-
-
13844251880
-
Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer
-
G. Casey, N.M. Lindor, N. Papadopoulos, and et al. Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer JAMA 293 2005 799 809
-
(2005)
JAMA
, vol.293
, pp. 799-809
-
-
Casey, G.1
Lindor, N.M.2
Papadopoulos, N.3
-
74
-
-
0037028740
-
Dominant negative ATM mutations in breast cancer families
-
G. Chenevix-Trench, A.B. Spurdle, M. Gatei, and et al. Dominant negative ATM mutations in breast cancer families J Natl Cancer Inst 94 2002 205 215
-
(2002)
J Natl Cancer Inst
, vol.94
, pp. 205-215
-
-
Chenevix-Trench, G.1
Spurdle, A.B.2
Gatei, M.3
-
75
-
-
33750904243
-
Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family Registry
-
J.L. Bernstein, S. Teraoka, M.C. Southey, and et al. Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family Registry Hum Mutat 27 2006 1122 1128
-
(2006)
Hum Mutat
, vol.27
, pp. 1122-1128
-
-
Bernstein, J.L.1
Teraoka, S.2
Southey, M.C.3
-
76
-
-
0030187780
-
BRCA1 protein products functional motifs
-
E.V. Koonin, S.F. Altschul, and P. Bork BRCA1 protein products. functional motifs Nat Genet 13 1996 266 268
-
(1996)
Nat Genet
, vol.13
, pp. 266-268
-
-
Koonin, E.V.1
Altschul, S.F.2
Bork, P.3
-
77
-
-
0034734384
-
The BRCA1 C-terminal domain: Structure and function
-
T. Huyton, P.A. Bates, X. Zhang, and et al. The BRCA1 C-terminal domain: structure and function Mutat Res 460 2000 319 332
-
(2000)
Mutat Res
, vol.460
, pp. 319-332
-
-
Huyton, T.1
Bates, P.A.2
Zhang, X.3
-
78
-
-
2542543477
-
Structure-based assessment of missense mutations in human BRCA1: Implications for breast and ovarian cancer predisposition
-
N. Mirkovic, M.A. Marti-Renom, B.L. Weber, and et al. Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition Cancer Res 64 2004 3790 3797
-
(2004)
Cancer Res
, vol.64
, pp. 3790-3797
-
-
Mirkovic, N.1
Marti-Renom, M.A.2
Weber, B.L.3
-
79
-
-
0036103113
-
Genetic and clinical characterisation of familial adenomatous polyposis: A population based study
-
A.L. Moisio, H. Jarvinen, and P. Peltomaki Genetic and clinical characterisation of familial adenomatous polyposis: a population based study Gut 50 2002 845 850
-
(2002)
Gut
, vol.50
, pp. 845-850
-
-
Moisio, A.L.1
Jarvinen, H.2
Peltomaki, P.3
-
80
-
-
3142748325
-
Mismatch repair gene PMS2: Disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation
-
H. Nakagawa, J.C. Lockman, W.L. Frankel, and et al. Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation Cancer Res 64 2004 4721 4727
-
(2004)
Cancer Res
, vol.64
, pp. 4721-4727
-
-
Nakagawa, H.1
Lockman, J.C.2
Frankel, W.L.3
-
81
-
-
34548732241
-
Novel biallelic mutations in MSH6 and PMS2 genes: Gene conversion as a likely cause of PMS2 gene inactivation
-
J. Auclair, D. Leroux, F. Desseigne, and et al. Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation Hum Mutat 28 2007 1084 1090
-
(2007)
Hum Mutat
, vol.28
, pp. 1084-1090
-
-
Auclair, J.1
Leroux, D.2
Desseigne, F.3
-
82
-
-
48549099663
-
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations
-
L. Senter, M. Clendenning, K. Sotamaa, and et al. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations Gastroenterology 135 2008 419 428
-
(2008)
Gastroenterology
, vol.135
, pp. 419-428
-
-
Senter, L.1
Clendenning, M.2
Sotamaa, K.3
-
83
-
-
77951826608
-
Clinical analysis of PMS2: Mutation detection and avoidance of pseudogenes
-
C.P. Vaughn, J. Robles, J.J. Swensen, and et al. Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes Hum Mutat 31 2010 588 593
-
(2010)
Hum Mutat
, vol.31
, pp. 588-593
-
-
Vaughn, C.P.1
Robles, J.2
Swensen, J.J.3
-
84
-
-
79953709371
-
Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: Case series, review and follow-up guidelines
-
J.C. Herkert, R.C. Niessen, M.J. Olderode-Berends, and et al. Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines Eur J Cancer 47 2011 965 982
-
(2011)
Eur J Cancer
, vol.47
, pp. 965-982
-
-
Herkert, J.C.1
Niessen, R.C.2
Olderode-Berends, M.J.3
-
85
-
-
23244452266
-
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1
-
T.E. Raevaara, M.K. Korhonen, H. Lohi, and et al. Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1 Gastroenterology 129 2005 537 549
-
(2005)
Gastroenterology
, vol.129
, pp. 537-549
-
-
Raevaara, T.E.1
Korhonen, M.K.2
Lohi, H.3
-
86
-
-
33749483796
-
A human cell-based assay to evaluate the effects of alterations in the MLH1 mismatch repair gene
-
M.F. Blasi, I. Ventura, G. Aquilina, and et al. A human cell-based assay to evaluate the effects of alterations in the MLH1 mismatch repair gene Cancer Res 66 2006 9036 9044
-
(2006)
Cancer Res
, vol.66
, pp. 9036-9044
-
-
Blasi, M.F.1
Ventura, I.2
Aquilina, G.3
-
87
-
-
0038501052
-
Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH
-
J.R. Sampson, S. Dolwani, S. Jones, and et al. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH Lancet 362 2003 39 41
-
(2003)
Lancet
, vol.362
, pp. 39-41
-
-
Sampson, J.R.1
Dolwani, S.2
Jones, S.3
-
88
-
-
47149097787
-
A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects
-
I. Tournier, M. Vezain, A. Martins, and et al. A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects Hum Mutat 29 2008 1412 1424
-
(2008)
Hum Mutat
, vol.29
, pp. 1412-1424
-
-
Tournier, I.1
Vezain, M.2
Martins, A.3
-
89
-
-
34547181906
-
Nine novel pathogenic germline mutations in MLH1, MSH2, MSH6 and PMS2 in families with Lynch syndrome
-
N. Rahner, N. Friedrichs, M. Wehner, and et al. Nine novel pathogenic germline mutations in MLH1, MSH2, MSH6 and PMS2 in families with Lynch syndrome Acta Oncol 46 2007 763 769
-
(2007)
Acta Oncol
, vol.46
, pp. 763-769
-
-
Rahner, N.1
Friedrichs, N.2
Wehner, M.3
-
90
-
-
0036143918
-
Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system
-
J. Trojan, S. Zeuzem, A. Randolph, and et al. Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system Gastroenterology 122 2002 211 219
-
(2002)
Gastroenterology
, vol.122
, pp. 211-219
-
-
Trojan, J.1
Zeuzem, S.2
Randolph, A.3
-
91
-
-
0032862677
-
A missense mutation in both hMSH2 and APC in an Ashkenazi Jewish HNPCC kindred: Implications for clinical screening
-
Z.Q. Yuan, N. Wong, W.D. Foulkes, and et al. A missense mutation in both hMSH2 and APC in an Ashkenazi Jewish HNPCC kindred: implications for clinical screening J Med Genet 36 1999 790 793
-
(1999)
J Med Genet
, vol.36
, pp. 790-793
-
-
Yuan, Z.Q.1
Wong, N.2
Foulkes, W.D.3
-
92
-
-
0036917758
-
The founder mutation MSH2∗1906G - >c is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population
-
W.D. Foulkes, I. Thiffault, S.B. Gruber, and et al. The founder mutation MSH2∗1906G - >C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population Am J Hum Genet 71 2002 1395 1412
-
(2002)
Am J Hum Genet
, vol.71
, pp. 1395-1412
-
-
Foulkes, W.D.1
Thiffault, I.2
Gruber, S.B.3
-
93
-
-
2542490186
-
Structural basis of phosphopeptide recognition by the BRCT domain of BRCA1
-
R.S. Williams, M.S. Lee, D.D. Hau, and et al. Structural basis of phosphopeptide recognition by the BRCT domain of BRCA1 Nat Struct Mol Biol 11 2004 519 525
-
(2004)
Nat Struct Mol Biol
, vol.11
, pp. 519-525
-
-
Williams, R.S.1
Lee, M.S.2
Hau, D.D.3
-
94
-
-
40349087210
-
Identification of BRCA1 missense substitutions that confer partial functional activity: Potential moderate risk variants?
-
P.K. Lovelock, A.B. Spurdle, M.T. Mok, and et al. Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants? Breast Cancer Res 9 2007 R82
-
(2007)
Breast Cancer Res
, vol.9
, pp. R82
-
-
Lovelock, P.K.1
Spurdle, A.B.2
Mok, M.T.3
-
95
-
-
80053962624
-
Tumor suppressor BRCA1 epigenetically controls oncogenic microRNA-155
-
S. Chang, R.H. Wang, K. Akagi, and et al. Tumor suppressor BRCA1 epigenetically controls oncogenic microRNA-155 Nat Med 17 2011 1275 1282
-
(2011)
Nat Med
, vol.17
, pp. 1275-1282
-
-
Chang, S.1
Wang, R.H.2
Akagi, K.3
-
96
-
-
68249158091
-
A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example
-
L. Mohammadi, M.P. Vreeswijk, R. Oldenburg, and et al. A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example BMC Cancer 9 2009 211
-
(2009)
BMC Cancer
, vol.9
, pp. 211
-
-
Mohammadi, L.1
Vreeswijk, M.P.2
Oldenburg, R.3
-
97
-
-
0034900181
-
Diagnostic strategy for analytical scanning of BRCA1 gene by fluorescence-assisted mismatch analysis using large, bifluorescently labeled amplicons
-
E. Ricevuto, H. Sobol, D. Stoppa-Lyonnet, and et al. Diagnostic strategy for analytical scanning of BRCA1 gene by fluorescence-assisted mismatch analysis using large, bifluorescently labeled amplicons Clin Cancer Res 7 2001 1638 1646
-
(2001)
Clin Cancer Res
, vol.7
, pp. 1638-1646
-
-
Ricevuto, E.1
Sobol, H.2
Stoppa-Lyonnet, D.3
-
98
-
-
84926610163
-
Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk
-
T. Judkins, B. Leclair, K. Bowles, and et al. Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk BMC Cancer 15 2015 215
-
(2015)
BMC Cancer
, vol.15
, pp. 215
-
-
Judkins, T.1
Leclair, B.2
Bowles, K.3
|