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Results: 1 to 20 of 37

References for PMC Articles for PubMed (Select 21182766)

1.

Population-based estimate of the contribution of TP53 mutations to subgroups of early-onset breast cancer: Australian Breast Cancer Family Study.

Mouchawar J, Korch C, Byers T, Pitts TM, Li E, McCredie MR, Giles GG, Hopper JL, Southey MC.

Cancer Res. 2010 Jun 15;70(12):4795-800. doi: 10.1158/0008-5472.CAN-09-0851. Epub 2010 May 25.

2.

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.

3.

A PALB2 germline mutation associated with hereditary breast cancer in Italy.

Papi L, Putignano AL, Congregati C, Piaceri I, Zanna I, Sera F, Morrone D, Genuardi M, Palli D.

Fam Cancer. 2010 Jun;9(2):181-5. doi: 10.1007/s10689-009-9295-z. Epub 2009 Sep 18.

PMID:
19763884
4.

Advantages of the high resolution melting in the detection of BRCA1 or BRCA2 mutation carriers.

Jiménez Ide J, Esteban Cardeñosa E, Palanca Suela S, González EB, Bolufer Gilabert P; Group of Cancer Genetic Counselling Program of Valencia Community.

Clin Biochem. 2009 Oct;42(15):1572-6. doi: 10.1016/j.clinbiochem.2009.07.010. Epub 2009 Jul 17.

PMID:
19616529
5.

Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis.

Nguyen-Dumont T, Calvez-Kelm FL, Forey N, McKay-Chopin S, Garritano S, Gioia-Patricola L, De Silva D, Weigel R, Sangrajrang S, Lesueur F, Tavtigian SV; Breast Cancer Family Registries (BCFR); Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab).

Hum Mutat. 2009 Jun;30(6):884-90. doi: 10.1002/humu.20949.

6.

BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer.

Hall MJ, Reid JE, Burbidge LA, Pruss D, Deffenbaugh AM, Frye C, Wenstrup RJ, Ward BE, Scholl TA, Noll WW.

Cancer. 2009 May 15;115(10):2222-33. doi: 10.1002/cncr.24200. Erratum in: Cancer. 2009 Jun 15;115(12):2804.

7.

BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: an open resource for collaborative research.

Neuhausen SL, Ozcelik H, Southey MC, John EM, Godwin AK, Chung W, Iriondo-Perez J, Miron A, Santella RM, Whittemore A, Andrulis IL, Buys SS, Daly MB, Hopper JL, Seminara D, Senie RT, Terry MB; Breast Cancer Family Registry.

Breast Cancer Res Treat. 2009 Jul;116(2):379-86. doi: 10.1007/s10549-008-0153-8. Epub 2008 Aug 14.

8.

Penetrance analysis of the PALB2 c.1592delT founder mutation.

Erkko H, Dowty JG, Nikkilä J, Syrjäkoski K, Mannermaa A, Pylkäs K, Southey MC, Holli K, Kallioniemi A, Jukkola-Vuorinen A, Kataja V, Kosma VM, Xia B, Livingston DM, Winqvist R, Hopper JL.

Clin Cancer Res. 2008 Jul 15;14(14):4667-71. doi: 10.1158/1078-0432.CCR-08-0210.

9.

Are the so-called low penetrance breast cancer genes, ATM, BRIP1, PALB2 and CHEK2, high risk for women with strong family histories?

Byrnes GB, Southey MC, Hopper JL.

Breast Cancer Res. 2008;10(3):208. doi: 10.1186/bcr2099. Epub 2008 Jun 5. Review.

10.

The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions.

Antoniou AC, Cunningham AP, Peto J, Evans DG, Lalloo F, Narod SA, Risch HA, Eyfjord JE, Hopper JL, Southey MC, Olsson H, Johannsson O, Borg A, Pasini B, Radice P, Manoukian S, Eccles DM, Tang N, Olah E, Anton-Culver H, Warner E, Lubinski J, Gronwald J, Gorski B, Tryggvadottir L, Syrjakoski K, Kallioniemi OP, Eerola H, Nevanlinna H, Pharoah PD, Easton DF.

Br J Cancer. 2008 Apr 22;98(8):1457-66. doi: 10.1038/sj.bjc.6604305. Epub 2008 Mar 18. Erratum in: Br J Cancer. 2008 Jun 17;98(12):2015. Passini, B [corrected to Pasini, B].

11.

Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families.

García MJ, Fernández V, Osorio A, Barroso A, Llort G, Lázaro C, Blanco I, Caldés T, de la Hoya M, Ramón Y Cajal T, Alonso C, Tejada MI, San Román C, Robles-Díaz L, Urioste M, Benítez J.

Breast Cancer Res Treat. 2009 Feb;113(3):545-51. doi: 10.1007/s10549-008-9945-0. Epub 2008 Feb 27.

PMID:
18302019
12.

Analysis of the gene coding for the BRCA2-interacting protein PALB2 in hereditary prostate cancer.

Tischkowitz M, Sabbaghian N, Ray AM, Lange EM, Foulkes WD, Cooney KA.

Prostate. 2008 May 1;68(6):675-8. doi: 10.1002/pros.20729.

13.

The emerging landscape of breast cancer susceptibility.

Stratton MR, Rahman N.

Nat Genet. 2008 Jan;40(1):17-22.

PMID:
18163131
14.

Identification of a novel truncating PALB2 mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women.

Foulkes WD, Ghadirian P, Akbari MR, Hamel N, Giroux S, Sabbaghian N, Darnel A, Royer R, Poll A, Fafard E, Robidoux A, Martin G, Bismar TA, Tischkowitz M, Rousseau F, Narod SA.

Breast Cancer Res. 2007;9(6):R83.

15.

BRCA1 promoter deletions in young women with breast cancer and a strong family history: a population-based study.

Smith LD, Tesoriero AA, Ramus SJ, Dite G, Royce SG, Giles GG, McCredie MR, Hopper JL, Southey MC.

Eur J Cancer. 2007 Mar;43(5):823-7. Epub 2007 Feb 21.

16.

A recurrent mutation in PALB2 in Finnish cancer families.

Erkko H, Xia B, Nikkilä J, Schleutker J, Syrjäkoski K, Mannermaa A, Kallioniemi A, Pylkäs K, Karppinen SM, Rapakko K, Miron A, Sheng Q, Li G, Mattila H, Bell DW, Haber DA, Grip M, Reiman M, Jukkola-Vuorinen A, Mustonen A, Kere J, Aaltonen LA, Kosma VM, Kataja V, Soini Y, Drapkin RI, Livingston DM, Winqvist R.

Nature. 2007 Mar 15;446(7133):316-9. Epub 2007 Feb 7.

PMID:
17287723
17.

PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene.

Rahman N, Seal S, Thompson D, Kelly P, Renwick A, Elliott A, Reid S, Spanova K, Barfoot R, Chagtai T, Jayatilake H, McGuffog L, Hanks S, Evans DG, Eccles D; Breast Cancer Susceptibility Collaboration (UK), Easton DF, Stratton MR.

Nat Genet. 2007 Feb;39(2):165-7. Epub 2006 Dec 31.

18.

Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles.

Seal S, Thompson D, Renwick A, Elliott A, Kelly P, Barfoot R, Chagtai T, Jayatilake H, Ahmed M, Spanova K, North B, McGuffog L, Evans DG, Eccles D; Breast Cancer Susceptibility Collaboration (UK), Easton DF, Stratton MR, Rahman N.

Nat Genet. 2006 Nov;38(11):1239-41. Epub 2006 Oct 8.

PMID:
17033622
19.

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.

Bernstein JL, Teraoka S, Southey MC, Jenkins MA, Andrulis IL, Knight JA, John EM, Lapinski R, Wolitzer AL, Whittemore AS, West D, Seminara D, Olson ER, Spurdle AB, Chenevix-Trench G, Giles GG, Hopper JL, Concannon P.

Hum Mutat. 2006 Nov;27(11):1122-8.

PMID:
16958054
20.

ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles.

Renwick A, Thompson D, Seal S, Kelly P, Chagtai T, Ahmed M, North B, Jayatilake H, Barfoot R, Spanova K, McGuffog L, Evans DG, Eccles D; Breast Cancer Susceptibility Collaboration (UK), Easton DF, Stratton MR, Rahman N.

Nat Genet. 2006 Aug;38(8):873-5. Epub 2006 Jul 9.

PMID:
16832357
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