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Is BRCA2 c.9079 G>A a predisposing variant for early onset breast cancer?

Hammet F, George J, Tesoriero AA, Jenkins MA, Schroen C, Smith L, Grabosch-Meehan A, Dite G, McCredie MR, Giles GG, Tavtigian SV, Hopper JL, Southey MC.

Breast Cancer Res Treat. 2008 May;109(1):177-9. Epub 2007 Jun 5. No abstract available.


Should a BRCA2 stop codon human variant, usually considered a polymorphism, be classified as a predisposing mutation?

D'Argenio V, Esposito MV, Gilder JA, Frisso G, Salvatore F.

Cancer. 2014 May 15;120(10):1594-5. doi: 10.1002/cncr.28605. Epub 2014 Feb 5. No abstract available.


BRCA1 and BRCA2 germline mutations screening in Algerian breast/ovarian cancer families.

Cherbal F, Bakour R, Adane S, Boualga K, Benais-Pont G, Maillet P.

Dis Markers. 2010;28(6):377-84. doi: 10.3233/DMA-2010-0718.


Central European BRCA2 mutation carriers: birth cohort status correlates with onset of breast cancer.

Tea MK, Kroiss R, Muhr D, Fuerhauser-Rappaport C, Oefner P, Wagner TM, Singer CF.

Maturitas. 2014 Jan;77(1):68-72. doi: 10.1016/j.maturitas.2013.09.012. Epub 2013 Oct 1.


Breast cancer risks in women with a family history of breast or ovarian cancer who have tested negative for a BRCA1 or BRCA2 mutation.

Metcalfe KA, Finch A, Poll A, Horsman D, Kim-Sing C, Scott J, Royer R, Sun P, Narod SA.

Br J Cancer. 2009 Jan 27;100(2):421-5. doi: 10.1038/sj.bjc.6604830. Epub 2008 Dec 16.


The contribution of founder mutations to early-onset breast cancer in French-Canadian women.

Ghadirian P, Robidoux A, Zhang P, Royer R, Akbari M, Zhang S, Fafard E, Costa M, Martin G, Potvin C, Patocskai E, Larouche N, Younan R, Nassif E, Giroux S, Narod SA, Rousseau F, Foulkes WD.

Clin Genet. 2009 Nov;76(5):421-6. doi: 10.1111/j.1399-0004.2009.01277.x.


Analysis of breast cancer susceptibility genes BRCA1 and BRCA2 in Thai familial and isolated early-onset breast and ovarian cancer.

Patmasiriwat P, Bhothisuwan K, Sinilnikova OM, Chopin S, Methakijvaroon S, Badzioch M, Padungsutt P, Vattanaviboon P, Vattanasapt V, Szabo C, Saunders GF, Goldgar D, Lenoir GM.

Hum Mutat. 2002 Sep;20(3):230.


A common missense variant in BRCA2 predisposes to early onset breast cancer.

Górski B, Narod SA, Lubinski J.

Breast Cancer Res. 2005;7(6):R1023-7. Epub 2005 Oct 24.


The BRCA2 372 HH genotype is associated with risk of breast cancer in Australian women under age 60 years.

Spurdle AB, Hopper JL, Chen X, Dite GS, Cui J, McCredie MR, Giles GG, Ellis-Steinborner S, Venter DJ, Newman B, Southey MC, Chenevix-Trench G.

Cancer Epidemiol Biomarkers Prev. 2002 Apr;11(4):413-6.


MDM2 SNP309 accelerates breast and ovarian carcinogenesis in BRCA1 and BRCA2 carriers of Jewish-Ashkenazi descent.

Yarden RI, Friedman E, Metsuyanim S, Olender T, Ben-Asher E, Papa MZ.

Breast Cancer Res Treat. 2008 Oct;111(3):497-504. Epub 2007 Nov 18.


Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalence.

de Juan Jiménez I, García Casado Z, Palanca Suela S, Esteban Cardeñosa E, López Guerrero JA, Segura Huerta Á, Chirivella González I, Sánchez Heras AB, Juan Fita MJ, Tena García I, Guillen Ponce C, Martínez de Dueñas E, Romero Noguera I, Salas Trejo D, Goicoechea Sáez M, Bolufer Gilabert P.

Fam Cancer. 2013 Dec;12(4):767-77. doi: 10.1007/s10689-013-9622-2.


Evaluation of genetic variations in miRNA-binding sites of BRCA1 and BRCA2 genes as risk factors for the development of early-onset and/or familial breast cancer.

Erturk E, Cecener G, Polatkan V, Gokgoz S, Egeli U, Tunca B, Tezcan G, Demirdogen E, Ak S, Tasdelen I.

Asian Pac J Cancer Prev. 2014;15(19):8319-24.


The BRCA2 c.9004G>A (E2002K) [corrected] variant is likely pathogenic and recurs in breast and/or ovarian cancer families of French Canadian descent.

Cote S, Arcand SL, Royer R, Nolet S, Mes-Masson AM, Ghadirian P, Foulkes WD, Tischkowitz M, Narod SA, Provencher D, Tonin PN.

Breast Cancer Res Treat. 2012 Jan;131(1):333-40. doi: 10.1007/s10549-011-1796-4. Epub 2011 Sep 27. Erratum in: Breast Cancer Res Treat. 2012 Jan;131(1):341.


A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.

Karami F, Mehdipour P.

Biomed Res Int. 2013;2013:928562. doi: 10.1155/2013/928562. Epub 2013 Nov 7. Review.


Age at onset of bilateral breast cancer, the presence of hereditary BRCA1, BRCA2, CHEK2 gene mutations and positive family history of cancer.

Skasko E, Kluska A, Niwińska A, Kwiatkowska E, Bałabas A, Piatkowska M, Dabrowska M, Nowakowska D, Pieńkowski T.

Onkologie. 2009 Apr;32(4):182-8. doi: 10.1159/000200930. Epub 2009 Mar 13.


Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany.

Meyer P, Voigtlaender T, Bartram CR, Klaes R.

Hum Mutat. 2003 Sep;22(3):259.


BRCA2 mutation analysis of 87 Spanish breast/ovarian cancer families.

Campos B, Diez O, Domènech M, Baena M, Pericay C, Balmaña J, del Rio E, Sanz J, Alonso C, Baiget M.

Ann Oncol. 2001 Dec;12(12):1699-703.


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.


Report of Endometrial Cancer in Australian BRCA1 and BRCA2 mutation-positive Families.

Duffy DL, Antill YC, Stewart CJ, Young JP; kConFab, Spurdle AB.

Twin Res Hum Genet. 2011 Apr;14(2):111-8. doi: 10.1375/twin.14.2.111.

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