-
1
-
-
77956193440
-
Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality
-
20810374
-
Domchek SM, Friebel TM, Singer CF, Evans DG, Lynch HT, Isaacs C, et al. Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA. 2010;304:967-975. doi: 10.1001/jama.2010.1237 PMID: 20810374
-
(2010)
JAMA
, vol.304
, pp. 967-975
-
-
Domchek, S.M.1
Friebel, T.M.2
Singer, C.F.3
Evans, D.G.4
Lynch, H.T.5
Isaacs, C.6
-
2
-
-
62449249871
-
Beyond Li Fraumeni Syndrome: Clinical characteristics of families with p53 germline mutations
-
19204208
-
Gonzalez KD, Noltner KA, Buzin CH, Gu D, Wen-Fong CY, Nguyen VQ, et al. Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations. J Clin Oncol. 2009;27:1250-1256. doi: 10.1200/JCO.2008.16.6959 PMID: 19204208
-
(2009)
J Clin Oncol.
, vol.27
, 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
-
3
-
-
15644379587
-
Germline mutations in PTEN are an infrequent cause of genetic predisposition to breast cancer
-
9715274
-
FitzGerald MG, Marsh DJ, Wahrer D, Bell D, Caron S, Shannon KE, et al. Germline mutations in PTEN are an infrequent cause of genetic predisposition to breast cancer. Oncogene. 1998;17:727-731. PMID: 9715274
-
(1998)
Oncogene
, vol.17
, pp. 727-731
-
-
FitzGerald, M.G.1
Marsh, D.J.2
Wahrer, D.3
Bell, D.4
Caron, S.5
Shannon, K.E.6
-
4
-
-
46449107403
-
Hereditary diffuse gastric cancer: Association with lobular breast cancer
-
18046629
-
Schrader KA, Masciari S, Boyd N, Wiyrick S, Kaurah P, Senz J, et al. Hereditary diffuse gastric cancer: association with lobular breast cancer. Fam Cancer. 2008;7:73-82. PMID: 18046629
-
(2008)
Fam Cancer
, vol.7
, pp. 73-82
-
-
Schrader, K.A.1
Masciari, S.2
Boyd, N.3
Wiyrick, S.4
Kaurah, P.5
Senz, J.6
-
5
-
-
33846850422
-
Ten genes for inherited breast cancer
-
17292821
-
Walsh T, King MC. Ten genes for inherited breast cancer. Cancer Cell. 2007;11:103-105. PMID: 17292821
-
(2007)
Cancer Cell
, vol.11
, pp. 103-105
-
-
Walsh, T.1
King, M.C.2
-
6
-
-
0034989895
-
Is breast cancer part of the tumor spectrum of hereditary nonpolyposis colorectal cancer?
-
11359214
-
Vasen HF, Morreau H, Nortier JW. Is breast cancer part of the tumor spectrum of hereditary nonpolyposis colorectal cancer? Am J Hum Genet. 2001;68:1533-1535. PMID: 11359214
-
(2001)
Am J Hum Genet
, vol.68
, pp. 1533-1535
-
-
Vasen, H.F.1
Morreau, H.2
Nortier, J.W.3
-
7
-
-
77953734977
-
Population-based estimate of the contribution of TP53 mutations to subgroups of early-onset breast cancer: Australian Breast Cancer Family Study
-
20501846
-
Mouchawar J, Korch C, Byers T, Pitts TM, Li E, McCredie MR, et al. Population-based estimate of the contribution of TP53 mutations to subgroups of early-onset breast cancer: Australian Breast Cancer Family Study. Cancer Res. 2010;70:4795-4800. doi: 10.1158/0008-5472. CAN-09-0851 PMID: 20501846
-
(2010)
Cancer Res.
, vol.70
, pp. 4795-4800
-
-
Mouchawar, J.1
Korch, C.2
Byers, T.3
Pitts, T.M.4
Li, E.5
McCredie, M.R.6
-
8
-
-
57449097359
-
Feasibility of screening for Lynch syndrome among patients with colorectal cancer
-
18809606
-
Hampel H, Frankel WL, Martin E, Arnold M, Khanduja K, Kuebler P, et al. Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol. 2008;26:5783-5788. doi: 10. 1200/JCO.2008.17.5950 PMID: 18809606
-
(2008)
J Clin Oncol.
, vol.26
, pp. 5783-5788
-
-
Hampel, H.1
Frankel, W.L.2
Martin, E.3
Arnold, M.4
Khanduja, K.5
Kuebler, P.6
-
9
-
-
77955439715
-
Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing
-
20616022
-
Walsh T, Lee MK, Casadei S, Thornton AM, Stray SM, Pennil C, et al. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci USA. 2010;107:12629-12633. doi: 10.1073/pnas.1007983107 PMID: 20616022
-
(2010)
Proc Natl Acad Sci U S A
, 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
-
10
-
-
67649884743
-
Fast and accurate short read alignment with Burrows-Wheeler transform
-
19451168
-
Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009;25:1754-1760. doi: 10.1093/bioinformatics/btp324 PMID: 19451168
-
(2009)
Bioinformatics
, vol.25
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
11
-
-
68549104404
-
The sequence alignment/map format and SAMtools
-
19505943
-
Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, et al. The Sequence Alignment/Map format and SAMtools. Bioinformatics. 2009;25:2078-2079. doi: 10.1093/bioinformatics/btp352 PMID: 19505943
-
(2009)
Bioinformatics
, vol.25
, pp. 2078-2079
-
-
Li, H.1
Handsaker, B.2
Wysoker, A.3
Fennell, T.4
Ruan, J.5
Homer, N.6
-
12
-
-
66449114324
-
SNP detection for massively parallel whole-genome resequencing
-
19420381
-
Li R, Li Y, Fang X, Yang H, Wang J, Kristiansen K, et al. SNP detection for massively parallel whole-genome resequencing. Genome Res. 2009;19:1124-1132. doi: 10.1101/gr.088013.108 PMID: 19420381
-
(2009)
Genome Res.
, vol.19
, pp. 1124-1132
-
-
Li, R.1
Li, Y.2
Fang, X.3
Yang, H.4
Wang, J.5
Kristiansen, K.6
-
13
-
-
77956534324
-
ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data
-
20601685
-
Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010;38:e164. doi: 10.1093/nar/gkq603 PMID: 20601685
-
(2010)
Nucleic Acids Res.
, vol.38
, pp. e164
-
-
Wang, K.1
Li, M.2
Hakonarson, H.3
-
14
-
-
42349112088
-
Genome-wide association studies for complex traits: Consensus, uncertainty and challenges
-
18398418
-
McCarthy MI, Abecasis GR, Cardon LR, Goldstein DB, Little J, Ioannidis JP, et al. Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet. 2008;9:356-369. doi: 10.1038/nrg2344 PMID: 18398418
-
(2008)
Nat Rev Genet
, vol.9
, pp. 356-369
-
-
McCarthy, M.I.1
Abecasis, G.R.2
Cardon, L.R.3
Goldstein, D.B.4
Little, J.5
Ioannidis, J.P.6
-
15
-
-
0043122919
-
SIFT: Predicting amino acid changes that affect protein function
-
12824425
-
Ng PC, Henikoff S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res. 2003;31:3812-3814. PMID: 12824425
-
(2003)
Nucleic Acids Res.
, vol.31
, pp. 3812-3814
-
-
Ng, P.C.1
Henikoff, S.2
-
16
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
20354512
-
Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7:248-249. doi: 10.1038/nmeth0410-248 PMID: 20354512
-
(2010)
Nat Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
Ramensky, V.E.4
Gerasimova, A.5
Bork, P.6
-
17
-
-
74949092081
-
Detection of nonneutral substitution rates on mammalian phylogenies
-
19858363
-
Pollard KS, Hubisz MJ, Rosenbloom KR, Siepel A. Detection of nonneutral substitution rates on mammalian phylogenies. Genome Res. 2010;20:110-121. doi: 10.1101/gr.097857.109 PMID: 19858363
-
(2010)
Genome Res.
, vol.20
, pp. 110-121
-
-
Pollard, K.S.1
Hubisz, M.J.2
Rosenbloom, K.R.3
Siepel, A.4
-
18
-
-
0030902563
-
Phylogenetic methods come of age: Testing hypotheses in an evolutionary context
-
9092465
-
Huelsenbeck JP, Rannala B. Phylogenetic methods come of age: testing hypotheses in an evolutionary context. Science. 1997;276:227-232. PMID: 9092465
-
(1997)
Science
, vol.276
, pp. 227-232
-
-
Huelsenbeck, J.P.1
Rannala, B.2
-
19
-
-
54249144723
-
Genetic instability caused by loss of MutS homologue 3 in human colorectal cancer
-
18922920
-
Haugen AC, Goel A, Yamada K, Marra G, Nguyen TP, Nagasaka T, et al. Genetic instability caused by loss of MutS homologue 3 in human colorectal cancer. Cancer Res. 2008;68:8465-8472. doi: 10. 1158/0008-5472. CAN-08-0002 PMID: 18922920
-
(2008)
Cancer Res.
, vol.68
, pp. 8465-8472
-
-
Haugen, A.C.1
Goel, A.2
Yamada, K.3
Marra, G.4
Nguyen, T.P.5
Nagasaka, T.6
-
20
-
-
34248379012
-
Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: Lessons from recent developments in the IARC TP53 database
-
17311302
-
Petitjean A, Mathe E, Kato S, Ishioka C, Tavtigian SV, Hainaut P, et al. Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database. Hum Mutat. 2007;28:622-629. PMID: 17311302
-
(2007)
Hum Mutat.
, vol.28
, pp. 622-629
-
-
Petitjean, A.1
Mathe, E.2
Kato, S.3
Ishioka, C.4
Tavtigian, S.V.5
Hainaut, P.6
-
21
-
-
77952600845
-
Susceptibility pathways in Fanconi's anemia and breast cancer
-
20484397
-
D'Andrea AD. Susceptibility pathways in Fanconi's anemia and breast cancer. N Engl J Med. 2010;362:1909-1919. doi: 10.1056/NEJMra0809889 PMID: 20484397
-
(2010)
N Engl J Med.
, vol.362
, pp. 1909-1919
-
-
D'Andrea, A.D.1
-
22
-
-
79951588064
-
High-resolution melting analysis for mutation screening of RGSL1, RGS16, and RGS8 in breast cancer
-
21135262
-
Wiechec E, Wiuf C, Overgaard J, Hansen LL. High-resolution melting analysis for mutation screening of RGSL1, RGS16, and RGS8 in breast cancer. Cancer Epidemiol Biomarkers Prev. 2011;20:397-407. doi: 10.1158/1055-9965. EPI-10-0514 PMID: 21135262
-
(2011)
Cancer Epidemiol Biomarkers Prev.
, vol.20
, pp. 397-407
-
-
Wiechec, E.1
Wiuf, C.2
Overgaard, J.3
Hansen, L.L.4
-
23
-
-
26944461595
-
A common variant of CDKN2A (p16) predisposes to breast cancer
-
15879498
-
Debniak T, Gorski B, Huzarski T, Byrski T, Cybulski C, Mackiewicz A, et al. A common variant of CDKN2A (p16) predisposes to breast cancer. J Med Genet. 2005;42:763-765. PMID: 15879498
-
(2005)
J Med Genet.
, vol.42
, pp. 763-765
-
-
Debniak, T.1
Gorski, B.2
Huzarski, T.3
Byrski, T.4
Cybulski, C.5
Mackiewicz, A.6
-
24
-
-
34547579203
-
SPINK1 variants in young-onset pancreatic cancer
-
17653660
-
Hucl T, Jesnowski R, Pfutzer RH, Elsasser HP, Lohr M. SPINK1 variants in young-onset pancreatic cancer. J Gastroenterol. 2007;42:599. PMID: 17653660
-
(2007)
J Gastroenterol.
, vol.42
, pp. 599
-
-
Hucl, T.1
Jesnowski, R.2
Pfutzer, R.H.3
Elsasser, H.P.4
Lohr, M.5
-
25
-
-
0032976666
-
Common variable immunodeficiency: Clinical and immunological features of 248 patients
-
10413651
-
Cunningham-Rundles C, Bodian C. Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin Immunol. 1999;92:34-48. PMID: 10413651
-
(1999)
Clin Immunol.
, vol.92
, pp. 34-48
-
-
Cunningham-Rundles, C.1
Bodian, C.2
-
26
-
-
62449221834
-
Germline mutation in the FGFR3 gene in a TWIST1-negative family with Saethre-Chotzen syndrome and breast cancer
-
19025794
-
Sahlin P, Tarnow P, Martinsson T, Stenman G. Germline mutation in the FGFR3 gene in a TWIST1-negative family with Saethre-Chotzen syndrome and breast cancer. Genes Chromosomes Cancer. 2009;48:285-288. doi: 10.1002/gcc.20637 PMID: 19025794
-
(2009)
Genes Chromosomes Cancer
, vol.48
, pp. 285-288
-
-
Sahlin, P.1
Tarnow, P.2
Martinsson, T.3
Stenman, G.4
-
27
-
-
70349910088
-
A polymorphism in Werner syndrome gene is associated with breast cancer susceptibility in Chinese women
-
19205873
-
Wang Z, Xu Y, Tang J, Ma H, Qin J, Lu C, et al. A polymorphism in Werner syndrome gene is associated with breast cancer susceptibility in Chinese women. Breast Cancer Res Treat. 2009;118:169-175. doi: 10.1007/s10549-009-0327-z PMID: 19205873
-
(2009)
Breast Cancer Res Treat.
, vol.118
, pp. 169-175
-
-
Wang, Z.1
Xu, Y.2
Tang, J.3
Ma, H.4
Qin, J.5
Lu, C.6
-
28
-
-
33746775351
-
Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP)
-
16140997
-
Nielsen M, Franken PF, Reinards TH, Weiss MM, Waqner A, van der Klift H, et al. Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP). J Med Genet. 2005;42:e54. PMID: 16140997
-
(2005)
J Med Genet.
, vol.42
, pp. e54
-
-
Nielsen, M.1
Franken, P.F.2
Reinards, T.H.3
Weiss, M.M.4
Waqner, A.5
Van Der Klift, H.6
-
29
-
-
25444435147
-
A protein-truncating mutation in CYP17A1 in three sisters with early-onset breast cancer
-
16121340
-
Hopper JL, Hayes VM, Spurdle AB, Chenevix-Trench G, Jenkins MA, Milne RL, et al. A protein-truncating mutation in CYP17A1 in three sisters with early-onset breast cancer. Hum Mutat. 2005;26:298-302. PMID: 16121340
-
(2005)
Hum Mutat.
, vol.26
, pp. 298-302
-
-
Hopper, J.L.1
Hayes, V.M.2
Spurdle, A.B.3
Chenevix-Trench, G.4
Jenkins, M.A.5
Milne, R.L.6
-
30
-
-
59849108362
-
Recommendations from the EGAPP Working Group: Genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives
-
19125126
-
Berg AO, Armstrong K, Botkin J, Calonge N, Haddow J, Hayes M, et al. Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives. Genet Med. 2009;11:35-41. doi: 10.1097/GIM.0b013e31818fa2ff PMID: 19125126
-
(2009)
Genet Med.
, vol.11
, pp. 35-41
-
-
Berg, A.O.1
Armstrong, K.2
Botkin, J.3
Calonge, N.4
Haddow, J.5
Hayes, M.6
-
31
-
-
84866068268
-
Identification of BRCA1/2 founder mutations in Southern Chinese breast cancer patients using gene sequencing and high resolution DNA melting analysis
-
22970155
-
Kwong A, Ng EK, Wong CL, Law FB, Au T, Wong HN, et al. Identification of BRCA1/2 founder mutations in Southern Chinese breast cancer patients using gene sequencing and high resolution DNA melting analysis. PLoS One. 2012;7:e43994. doi: 10.1371/journal.pone.0043994 PMID: 22970155
-
(2012)
PLoS One
, vol.7
, pp. e43994
-
-
Kwong, A.1
Ng, E.K.2
Wong, C.L.3
Law, F.B.4
Au, T.5
Wong, H.N.6
-
32
-
-
84859100444
-
Prevalence and characterization of BRCA1 and BRCA2 germline mutations in Chinese women with familial breast cancer
-
21614564
-
Zhang J, Pei R, Pang Z, Ouyang T, Li J, Wang T, et al. Prevalence and characterization of BRCA1 and BRCA2 germline mutations in Chinese women with familial breast cancer. Breast Cancer Res Treat. 2012;132:421-428. doi: 10.1007/s10549-011-1596-x PMID: 21614564
-
(2012)
Breast Cancer Res Treat.
, vol.132
, pp. 421-428
-
-
Zhang, J.1
Pei, R.2
Pang, Z.3
Ouyang, T.4
Li, J.5
Wang, T.6
-
33
-
-
44849130662
-
The prevalence of BRCA1 and BRCA2 germline mutations in high-risk breast cancer patients of Chinese Han nationality: Two recurrent mutations were identified
-
17851763
-
Li WF, Hu Z, Rao NY, Song CG, Zhang B, Cao MZ, et al. The prevalence of BRCA1 and BRCA2 germline mutations in high-risk breast cancer patients of Chinese Han nationality: two recurrent mutations were identified. Breast Cancer Res Treat. 2008;110:99-109. PMID: 17851763
-
(2008)
Breast Cancer Res Treat.
, vol.110
, pp. 99-109
-
-
Li, W.F.1
Hu, Z.2
Rao, N.Y.3
Song, C.G.4
Zhang, B.5
Cao, M.Z.6
-
34
-
-
0035133356
-
Sensitivity and predictive value of criteria for p53 germline mutation screening
-
Chompret A, Abel A, Stoppa-Lyonnet D, Brugieres L, Pages S, Feunteun J, et al. Sensitivity and predictive value of criteria for p53 germline mutation screening. J Med Genet. 2011;38:43-47.
-
(2011)
J Med Genet.
, vol.38
, pp. 43-47
-
-
Chompret, A.1
Abel, A.2
Stoppa-Lyonnet, D.3
Brugieres, L.4
Pages, S.5
Feunteun, J.6
-
36
-
-
77953718900
-
TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: Mutation detection rate and relative frequency of cancers in different familial phenotypes
-
20522432
-
Ruijs MW, Verhoef S, Rookus MA, Pruntel R, van der Hout AH, Hogervorst FB, et al. TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. J Med Genet. 47:421-428. doi: 10.1136/jmg.2009.073429 PMID: 20522432
-
J Med Genet.
, vol.47
, pp. 421-428
-
-
Ruijs, M.W.1
Verhoef, S.2
Rookus, M.A.3
Pruntel, R.4
Van Der Hout, A.H.5
Hogervorst, F.B.6
-
37
-
-
84870410278
-
Routine TP53 testing for breast cancer under age 30: Ready for prime time?
-
22851211
-
McCuaig JM, Armel SR, Novokmet A, Ginsburg OM, Demsky R, Narod SA, et al. Routine TP53 testing for breast cancer under age 30: ready for prime time? Fam Cancer. 2012;11:607-613. doi: 10.1007/s10689-012-9557-z PMID: 22851211
-
(2012)
Fam Cancer.
, vol.11
, pp. 607-613
-
-
McCuaig, J.M.1
Armel, S.R.2
Novokmet, A.3
Ginsburg, O.M.4
Demsky, R.5
Narod, S.A.6
-
38
-
-
84860754358
-
Comparable frequency of BRCA1, BRCA2 and TP53 germline mutations in a multi-ethnic Asian cohort suggests TP53 screening should be offered together with BRCA1/2 screening to early-onset breast cancer patients
-
22507745
-
Lee DS, Yoon SY, Looi LM, Kang P, Kang IN, Sivanandan K, et al. Comparable frequency of BRCA1, BRCA2 and TP53 germline mutations in a multi-ethnic Asian cohort suggests TP53 screening should be offered together with BRCA1/2 screening to early-onset breast cancer patients. Breast Cancer Res. 2012;14:R66. PMID: 22507745
-
(2012)
Breast Cancer Res.
, vol.14
, pp. R66
-
-
Lee, D.S.1
Yoon, S.Y.2
Looi, L.M.3
Kang, P.4
Kang, I.N.5
Sivanandan, K.6
-
39
-
-
0035797528
-
Relative frequency and morphology of cancers in carriers of germline TP53 mutations
-
11498785
-
Birch JM, Alston RD, McNally RJ, Evans DG, Kelsey AM, Harris M, et al. Relative frequency and morphology of cancers in carriers of germline TP53 mutations. Oncogene. 2001;20:4621-4628. PMID: 11498785
-
(2001)
Oncogene
, vol.20
, 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
-
40
-
-
81255160576
-
Novel LOVD databases for hereditary breast cancer and colorectal cancer genes in the Chinese population
-
21901790
-
Pan M, Cong P, Wang Y, Lin C, Yuan Y, Dong J, et al. Novel LOVD databases for hereditary breast cancer and colorectal cancer genes in the Chinese population. Hum Mutat. 2011;32:1335-1340. doi: 10.1002/humu.21588 PMID: 21901790
-
(2011)
Hum Mutat.
, vol.32
, pp. 1335-1340
-
-
Pan, M.1
Cong, P.2
Wang, Y.3
Lin, C.4
Yuan, Y.5
Dong, J.6
-
41
-
-
0034795933
-
A role for MLH3 in hereditary nonpolyposis colorectal cancer
-
11586295
-
Wu Y, Berends MJ, Sijmons RH, Mensink RG, Verlind E, Kooi KA, et al. A role for MLH3 in hereditary nonpolyposis colorectal cancer. Nat Genet. 2001;29:137-138. PMID: 11586295
-
(2001)
Nat Genet.
, vol.29
, pp. 137-138
-
-
Wu, Y.1
Berends, M.J.2
Sijmons, R.H.3
Mensink, R.G.4
Verlind, E.5
Kooi, K.A.6
-
42
-
-
84881535953
-
Elevated microsatellite alterations at selected tetra-nucleotide (EMAST) in non-small cell lung cancers-A potential determinant of susceptibility to multiple malignancies
-
23412080
-
Arai H, Okudela K, Oshiro H, Komitsu N, Mitsui H, Nishii T, et al. Elevated microsatellite alterations at selected tetra-nucleotide (EMAST) in non-small cell lung cancers-A potential determinant of susceptibility to multiple malignancies. Int J Clin Exp Pathol. 2013;6:395-410. PMID: 23412080
-
(2013)
Int J Clin Exp Pathol.
, vol.6
, pp. 395-410
-
-
Arai, H.1
Okudela, K.2
Oshiro, H.3
Komitsu, N.4
Mitsui, H.5
Nishii, T.6
-
43
-
-
20244386395
-
Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer
-
15855432
-
Pinol V, Castells A, Andreu M, Castellvi-Bel S, Alenda C, Llor X, et al. Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer. JAMA. 2005;293:1986-1994. PMID: 15855432
-
(2005)
JAMA
, vol.293
, pp. 1986-1994
-
-
Pinol, V.1
Castells, A.2
Andreu, M.3
Castellvi-Bel, S.4
Alenda, C.5
Llor, X.6
-
44
-
-
0034652474
-
The DNA mismatch repair genes Msh3 and Msh6 cooperate in intestinal tumor suppression
-
10706084
-
Edelmann W, Umar A, Yang K, Heyer J, Kucherlapati M, Lia M, et al. The DNA mismatch repair genes Msh3 and Msh6 cooperate in intestinal tumor suppression. Cancer Res. 2000;60:803-807. PMID: 10706084
-
(2000)
Cancer Res.
, vol.60
, pp. 803-807
-
-
Edelmann, W.1
Umar, A.2
Yang, K.3
Heyer, J.4
Kucherlapati, M.5
Lia, M.6
-
45
-
-
84860555035
-
Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large populationbased cohort of patients with colorectal cancer
-
21868491
-
Perez-Carbonell L, Ruiz-Ponte C, Guarinos C, Alenda C, Paya A, Brea A, et al. Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large populationbased cohort of patients with colorectal cancer. Gut. 2012;61:865-872. doi: 10.1136/gutjnl-2011-300041 PMID: 21868491
-
(2012)
Gut
, vol.61
, pp. 865-872
-
-
Perez-Carbonell, L.1
Ruiz-Ponte, C.2
Guarinos, C.3
Alenda, C.4
Paya, A.5
Brea, A.6
-
46
-
-
10744233937
-
Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability
-
14970275
-
Umar A, Boland CR, Terdiman JP, Syngal S, de la Chapelle A, Ruschoff J, et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst. 2004;96:261-268. PMID: 14970275
-
(2004)
J Natl Cancer Inst.
, vol.96
, pp. 261-268
-
-
Umar, A.1
Boland, C.R.2
Terdiman, J.P.3
Syngal, S.4
De La Chapelle, A.5
Ruschoff, J.6
-
47
-
-
84885948398
-
Mutation screen and RNA analysis disclose the changed splicing of the E-cadherin transcription in gastric cancer
-
23435907
-
Li X, Gao Y, Pan Y, Pan Y, Wang L, Xiao N, et al. Mutation screen and RNA analysis disclose the changed splicing of the E-cadherin transcription in gastric cancer. Fam Cancer. 2013;12:547-554. doi: 10.1007/s10689-013-9619-x PMID: 23435907
-
(2013)
Fam Cancer
, vol.12
, pp. 547-554
-
-
Li, X.1
Gao, Y.2
Pan, Y.3
Pan, Y.4
Wang, L.5
Xiao, N.6
-
48
-
-
2542526858
-
Germline mutational analysis of CDH1 and pathologic features in familial cancer syndrome with diffuse gastric cancer/breast cancer proband in a Chinese family
-
15135482
-
Zhu ZG, Yu YY, Zhang Y, Ji J, Zhang J, Liu BY, et al. Germline mutational analysis of CDH1 and pathologic features in familial cancer syndrome with diffuse gastric cancer/breast cancer proband in a Chinese family. Eur J Surg Oncol. 2004;30:531-535. PMID: 15135482
-
(2004)
Eur J Surg Oncol.
, vol.30
, pp. 531-535
-
-
Zhu, Z.G.1
Yu, Y.Y.2
Zhang, Y.3
Ji, J.4
Zhang, J.5
Liu, B.Y.6
-
49
-
-
37549056200
-
The emerging landscape of breast cancer susceptibility
-
18163131
-
Stratton MR, Rahman N. The emerging landscape of breast cancer susceptibility. Nat Genet. 2008;40:17-22. PMID: 18163131
-
(2008)
Nat Genet.
, vol.40
, pp. 17-22
-
-
Stratton, M.R.1
Rahman, N.2
-
50
-
-
84866932831
-
Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles
-
23028338
-
Thompson ER, Doyle MA, Ryland GL, Rowley SM, Choong DY, Tothill RW, et al. Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles. PLoS Genet. 2012;8:e1002894. doi: 10.1371/journal.pgen. 1002894 PMID: 23028338
-
(2012)
PLoS Genet
, vol.8
, pp. e1002894
-
-
Thompson, E.R.1
Doyle, M.A.2
Ryland, G.L.3
Rowley, S.M.4
Choong, D.Y.5
Tothill, R.W.6
-
51
-
-
79953306836
-
Double heterozygosity in the BRCA1 and BRCA2 genes in the Jewish population
-
20924075
-
Lavie O, Narod S, Lejbkowicz F, Dishon S, Goldberg Y, Gemer O, et al. Double heterozygosity in the BRCA1 and BRCA2 genes in the Jewish population. Ann Oncol. 2011;22:964-966. doi: 10.1093/annonc/mdq460 PMID: 20924075
-
(2011)
Ann Oncol.
, vol.22
, pp. 964-966
-
-
Lavie, O.1
Narod, S.2
Lejbkowicz, F.3
Dishon, S.4
Goldberg, Y.5
Gemer, O.6
-
52
-
-
0034011602
-
Germline BRCA1 and HMLH1 mutations in a family with male and female breast carcinoma
-
10709098
-
Borg A, Isola J, Chen J, Rubio C, Johansson U, Werelius B, et al. Germline BRCA1 and HMLH1 mutations in a family with male and female breast carcinoma. Int J Cancer. 2000;85:796-800. PMID: 10709098
-
(2000)
Int J Cancer
, vol.85
, pp. 796-800
-
-
Borg, A.1
Isola, J.2
Chen, J.3
Rubio, C.4
Johansson, U.5
Werelius, B.6
-
53
-
-
80955135827
-
Abundant pleiotropy in human complex diseases and traits
-
22077970
-
Sivakumaran S, Agakov F, Theodoratou E, Prendergast JG, Zgaga L, Manolio T, et al. Abundant pleiotropy in human complex diseases and traits. Am J Hum Genet. 2011;89:607-618. doi: 10.1016/j.ajhg. 2011.10.004 PMID: 22077970
-
(2011)
Am J Hum Genet.
, vol.89
, pp. 607-618
-
-
Sivakumaran, S.1
Agakov, F.2
Theodoratou, E.3
Prendergast, J.G.4
Zgaga, L.5
Manolio, T.6
-
54
-
-
0032908832
-
Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan
-
10323242
-
Li SS, Tseng HM, Yang TP, Liu CH, Teng SJ, Huang HW, et al. Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan. Hum Genet. 1999;104:201-204. PMID: 10323242
-
(1999)
Hum Genet
, vol.104
, pp. 201-204
-
-
Li, S.S.1
Tseng, H.M.2
Yang, T.P.3
Liu, C.H.4
Teng, S.J.5
Huang, H.W.6
-
55
-
-
1542675904
-
Mutation analysis of hMSH2 and hMLH1 genes in Chinese hereditary nonpolyposis colorectal cancer families
-
14514376
-
Cai Q, Sun MH, Fu G, Ding CW, Mo SJ, Cai SJ, et al. Mutation analysis of hMSH2 and hMLH1 genes in Chinese hereditary nonpolyposis colorectal cancer families. Zhonghua Bing Li Xue Za Zhi. 2003;32:323-328. PMID: 14514376
-
(2003)
Zhonghua Bing Li Xue Za Zhi
, vol.32
, pp. 323-328
-
-
Cai, Q.1
Sun, M.H.2
Fu, G.3
Ding, C.W.4
Mo, S.J.5
Cai, S.J.6
-
56
-
-
61449204036
-
The prevalence of PALB2 germline mutations in BRCA1/BRCA2 negative Chinese women with early onset breast cancer or affected relatives
-
18446436
-
Cao AY, Huang J, Hu Z, Li WF, Ma ZL, Tang LL, et al. The prevalence of PALB2 germline mutations in BRCA1/BRCA2 negative Chinese women with early onset breast cancer or affected relatives. Breast Cancer Res Treat. 2009;114:457-462. doi: 10.1007/s10549-008-0036-z PMID: 18446436
-
(2009)
Breast Cancer Res Treat.
, vol.114
, pp. 457-462
-
-
Cao, A.Y.1
Huang, J.2
Hu, Z.3
Li, W.F.4
Ma, Z.L.5
Tang, L.L.6
-
57
-
-
6444236850
-
A novel splice-site variant of the base excision repair gene MYH is associated with production of an aberrant mRNA transcript encoding a truncated MYH protein not localized in the nucleus
-
15180946
-
Tao H, Shinmura K, Hanaoka T, Natsukawa S, Shaura K, Koizumi Y, et al. A novel splice-site variant of the base excision repair gene MYH is associated with production of an aberrant mRNA transcript encoding a truncated MYH protein not localized in the nucleus. Carcinogenesis. 2004;25:1859-1866. PMID: 15180946
-
(2004)
Carcinogenesis
, vol.25
, pp. 1859-1866
-
-
Tao, H.1
Shinmura, K.2
Hanaoka, T.3
Natsukawa, S.4
Shaura, K.5
Koizumi, Y.6
-
58
-
-
0034039578
-
Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis
-
10835640
-
Witt H, Luck W, Hennies HC, Classen M, Kage A, Lass U, et al. Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. Nat Genet. 2000;25:213-216. PMID: 10835640
-
(2000)
Nat Genet
, vol.25
, pp. 213-216
-
-
Witt, H.1
Luck, W.2
Hennies, H.C.3
Classen, M.4
Kage, A.5
Lass, U.6
|