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Items: 1 to 20 of 204

1.

Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study.

Le Calvez-Kelm F, Lesueur F, Damiola F, Vallée M, Voegele C, Babikyan D, Durand G, Forey N, McKay-Chopin S, Robinot N, Nguyen-Dumont T, Thomas A, Byrnes GB; Breast Cancer Family Registry., Hopper JL, Southey MC, Andrulis IL, John EM, Tavtigian SV.

Breast Cancer Res. 2011 Jan 18;13(1):R6. doi: 10.1186/bcr2810.

2.

Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study.

Damiola F, Pertesi M, Oliver J, Le Calvez-Kelm F, Voegele C, Young EL, Robinot N, Forey N, Durand G, Vallée MP, Tao K, Roane TC, Williams GJ, Hopper JL, Southey MC, Andrulis IL, John EM, Goldgar DE, Lesueur F, Tavtigian SV.

Breast Cancer Res. 2014 Jun 3;16(3):R58. doi: 10.1186/bcr3669.

3.

Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals.

Kuusisto KM, Bebel A, Vihinen M, Schleutker J, Sallinen SL.

Breast Cancer Res. 2011 Feb 28;13(1):R20. doi: 10.1186/bcr2832.

4.

Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer.

Tavtigian SV, Oefner PJ, Babikyan D, Hartmann A, Healey S, Le Calvez-Kelm F, Lesueur F, Byrnes GB, Chuang SC, Forey N, Feuchtinger C, Gioia L, Hall J, Hashibe M, Herte B, McKay-Chopin S, Thomas A, Vallée MP, Voegele C, Webb PM, Whiteman DC; Australian Cancer Study.; Breast Cancer Family Registries (BCFR).; Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast Cancer (kConFab)., Sangrajrang S, Hopper JL, Southey MC, Andrulis IL, John EM, Chenevix-Trench G.

Am J Hum Genet. 2009 Oct;85(4):427-46. doi: 10.1016/j.ajhg.2009.08.018. Epub 2009 Sep 24.

5.

Missense mutations (p.H371Y, p.D438Y) in gene CHEK2 are associated with breast cancer risk in women of Balochistan origin.

Baloch AH, Daud S, Raheem N, Luqman M, Ahmad A, Rehman A, Shuja J, Rasheed S, Ali A, Kakar N, Naseeb HK, Mengal MA, Awan MA, Wasim M, Baloch DM, Ahmad J.

Mol Biol Rep. 2014 Feb;41(2):1103-7. doi: 10.1007/s11033-013-2956-x. Epub 2014 Jan 4.

PMID:
24390236
6.

Genetic and functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts.

Bell DW, Kim SH, Godwin AK, Schiripo TA, Harris PL, Haserlat SM, Wahrer DC, Haiman CA, Daly MB, Niendorf KB, Smith MR, Sgroi DC, Garber JE, Olopade OI, Le Marchand L, Henderson BE, Altshuler D, Haber DA, Freedman ML.

Int J Cancer. 2007 Dec 15;121(12):2661-7.

7.

Low prevalence of CHEK2 gene mutations in multiethnic cohorts of breast cancer patients in Malaysia.

Mohamad S, Isa NM, Muhammad R, Emran NA, Kitan NM, Kang P, Kang IN, Taib NA, Teo SH, Akmal SN.

PLoS One. 2015 Jan 28;10(1):e0117104. doi: 10.1371/journal.pone.0117104. eCollection 2015.

8.

RAD51 and breast cancer susceptibility: no evidence for rare variant association in the Breast Cancer Family Registry study.

Le Calvez-Kelm F, Oliver J, Damiola F, Forey N, Robinot N, Durand G, Voegele C, Vallée MP, Byrnes G, Registry BC, Hopper JL, Southey MC, Andrulis IL, John EM, Tavtigian SV, Lesueur F.

PLoS One. 2012;7(12):e52374. doi: 10.1371/journal.pone.0052374. Epub 2012 Dec 27.

9.

Growing recognition of the role for rare missense substitutions in breast cancer susceptibility.

Tavtigian SV, Chenevix-Trench G.

Biomark Med. 2014;8(4):589-603. doi: 10.2217/bmm.13.143. Review.

10.

Germline CHEK2 mutations in Jewish Ashkenazi women at high risk for breast cancer.

Laitman Y, Kaufman B, Lahad EL, Papa MZ, Friedman E.

Isr Med Assoc J. 2007 Nov;9(11):791-6.

11.

Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer.

Walsh T, Casadei S, Coats KH, Swisher E, Stray SM, Higgins J, Roach KC, Mandell J, Lee MK, Ciernikova S, Foretova L, Soucek P, King MC.

JAMA. 2006 Mar 22;295(12):1379-88.

PMID:
16551709
12.

Effect of CHEK2 missense variant I157T on the risk of breast cancer in carriers of other CHEK2 or BRCA1 mutations.

Cybulski C, Górski B, Huzarski T, Byrski T, Gronwald J, Debniak T, Wokolorczyk D, Jakubowska A, Serrano-Fernández P, Dork T, Narod SA, Lubinski J.

J Med Genet. 2009 Feb;46(2):132-5. doi: 10.1136/jmg.2008.061697. Epub 2008 Oct 17.

PMID:
18930998
13.

Evaluation of the contribution of the three breast cancer susceptibility genes CHEK2, STK11, and PALB2 in non-BRCA1/2 French Canadian families with high risk of breast cancer.

Guénard F, Pedneault CS, Ouellette G, Labrie Y, Simard J; INHERIT., Durocher F.

Genet Test Mol Biomarkers. 2010 Aug;14(4):515-26. doi: 10.1089/gtmb.2010.0027.

PMID:
20722467
14.

Identification of a novel CHEK2 variant and assessment of its contribution to the risk of breast cancer in French Canadian women.

Novak DJ, Chen LQ, Ghadirian P, Hamel N, Zhang P, Rossiny V, Cardinal G, Robidoux A, Tonin PN, Rousseau F, Narod SA, Foulkes WD.

BMC Cancer. 2008 Aug 15;8:239. doi: 10.1186/1471-2407-8-239.

15.

Association of two mutations in the CHEK2 gene with breast cancer.

Bogdanova N, Enssen-Dubrowinskaja N, Feshchenko S, Lazjuk GI, Rogov YI, Dammann O, Bremer M, Karstens JH, Sohn C, Dörk T.

Int J Cancer. 2005 Aug 20;116(2):263-6.

16.

CHEK2 contribution to hereditary breast cancer in non-BRCA families.

Desrichard A, Bidet Y, Uhrhammer N, Bignon YJ.

Breast Cancer Res. 2011;13(6):R119. doi: 10.1186/bcr3062. Epub 2011 Nov 24.

17.

First evidence of a large CHEK2 duplication involved in cancer predisposition in an Italian family with hereditary breast cancer.

Tedaldi G, Danesi R, Zampiga V, Tebaldi M, Bedei L, Zoli W, Amadori D, Falcini F, Calistri D.

BMC Cancer. 2014 Jul 1;14:478. doi: 10.1186/1471-2407-14-478.

18.

BRCA1 and BRCA2 unclassified variants and missense polymorphisms in Algerian breast/ovarian cancer families.

Cherbal F, Salhi N, Bakour R, Adane S, Boualga K, Maillet P.

Dis Markers. 2012;32(6):343-53. doi: 10.3233/DMA-2012-0893.

19.

Identification of a novel BRCA2 and CHEK2 A-C-G-C haplotype in Turkish patients affected with breast cancer.

Haytural H, Yalcinkaya N, Akan G, Arikan S, Ozkok E, Cakmakoglu B, Yaylim I, Aydin M, Atalar F.

Asian Pac J Cancer Prev. 2013;14(5):3229-35.

20.

Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications.

Tavtigian SV, Byrnes GB, Goldgar DE, Thomas A.

Hum Mutat. 2008 Nov;29(11):1342-54. doi: 10.1002/humu.20896.

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