Balmana J - Search Results

1

Role of POLE and POLD1 in familial cancer.

Mur P, García-Mulero S, Del Valle J, Magraner-Pardo L, Vidal A, Pineda M, Cinnirella G, Martín-Ramos E, Pons T, López-Doriga A, Belhadj S, Feliubadaló L, Munoz-Torres PM, Navarro M, Grau E, Darder E, Llort G, Sanz J, Ramón Y Cajal T, Balmana J, Brunet J, Moreno V, Piulats JM, Matías-Guiu X, Sanz-Pamplona R, Aligué R, Capellá G, Lázaro C, Valle L. Mur P, et al. Among authors: balmana j. Genet Med. 2020 Dec;22(12):2089-2100. doi: 10.1038/s41436-020-0922-2. Epub 2020 Aug 14. Genet Med. 2020. PMID: 32792570 Free PMC article.

2

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. Campos B, et al. Among authors: balmana j. Ann Oncol. 2001 Dec;12(12):1699-703. doi: 10.1023/a:1013517313008. Ann Oncol. 2001. PMID: 11843247 Free article.

3

Mismatch repair gene analysis in Catalonian families with colorectal cancer.

Palicio M, Balmaña J, González S, Blanco I, Marcuello E, Peinado MA, Julià G, Germà JR, López López JJ, Brunet J, Capellà G. Palicio M, et al. Among authors: balmana j. J Med Genet. 2002 Jun;39(6):E29. doi: 10.1136/jmg.39.6.e29. J Med Genet. 2002. PMID: 12070261 Free PMC article. No abstract available.

4

Microsatellite instability and immunostaining for MSH-2 and MLH-1 in cutaneous and internal tumors from patients with the Muir-Torre syndrome.

Machin P, Catasus L, Pons C, Muñoz J, Conde-Zurita JM, Balmaña J, Barnadas M, Martí RM, Prat J, Matias-Guiu X. Machin P, et al. Among authors: balmana j. J Cutan Pathol. 2002 Aug;29(7):415-20. doi: 10.1034/j.1600-0560.2002.290705.x. J Cutan Pathol. 2002. PMID: 12139636

5

[Description of a new TP53 gene germline mutation in a family with the Li-Fraumeni syndrome. Genetic counselling to healthy mutation carriers].

Balmaña J, Nomdedéu J, Díez O, Sabaté JM, Balil A, Pericay C, López López JJ, Brunet J, Baiget M, Alonso C. Balmaña J, et al. Med Clin (Barc). 2002 Oct 19;119(13):497-9. doi: 10.1016/s0025-7753(02)73474-x. Med Clin (Barc). 2002. PMID: 12406399 Spanish.

6

RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain.

Campos B, Díez O, Domènech M, Baena M, Balmaña J, Sanz J, Ramírez A, Alonso C, Baiget M. Campos B, et al. Among authors: balmana j. Hum Mutat. 2003 Oct;22(4):337. doi: 10.1002/humu.9176. Hum Mutat. 2003. PMID: 12955719

7

Genetic counseling program in familial breast cancer: analysis of its effectiveness, cost and cost-effectiveness ratio.

Balmaña J, Sanz J, Bonfill X, Casado A, Rué M, Gich I, Díez O, Sabaté JM, Baiget M, Alonso MC. Balmaña J, et al. Int J Cancer. 2004 Nov 20;112(4):647-52. doi: 10.1002/ijc.20458. Int J Cancer. 2004. PMID: 15382046 Free article.

8

[Haplotype of the BRCA2 6857delAA mutation in 4 families with breast/ovarian cancer].

Campos B, Díez O, Alvarez C, Palma L, Domènech M, Balmaña J, Sanz J, Ramírez A, Alonso C, Carvallo P, Baiget M. Campos B, et al. Among authors: balmana j. Med Clin (Barc). 2004 Oct 23;123(14):543-5. doi: 10.1016/s0025-7753(04)74590-x. Med Clin (Barc). 2004. PMID: 15535929 Spanish.

9

Caution should be used when interpreting alterations affecting the exon 3 of the BRCA2 gene in breast/ovarian cancer families.

Díez O, Gutiérrez-Enríquez S, Ramón y Cajal T, Alonso C, Balmaña J, Llort G. Díez O, et al. Among authors: balmana j. J Clin Oncol. 2007 Nov 1;25(31):5035-6; author reply 5036-8. doi: 10.1200/JCO.2007.13.4346. J Clin Oncol. 2007. PMID: 17971607 No abstract available.

10

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.

Balmaña J, Balaguer F, Castellví-Bel S, Steyerberg EW, Andreu M, Llor X, Jover R, Castells A, Syngal S; Gastrointestinal Oncology Group of the Spanish Gastroenterological Association. Balmaña J, et al. J Med Genet. 2008 Sep;45(9):557-63. doi: 10.1136/jmg.2008.059311. Epub 2008 Jun 25. J Med Genet. 2008. PMID: 18603628

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