A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P < 10−8, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers

Factor Viii Inhibitors In Patients With Congenital Severe Haemophilia A And Its Relation To Genotype

[No abstract available]186e411e414Graw, J., Brackmann, H.H., Oldenburg, J., Schneppenheim, R., Spannagl, M., Schwaab, R., Haemophilia A: from mutation analysis to new therapies (2005) Nat Rev Genet, 6, pp. 488-501Gouw, S.C., van den Berg, H.M., The multifactorial etiology of inhibitor development in haemophilia: genetics and environmental (2009) Semin Tromb Hemost, 35, pp. 723-734Oldenburg, J., Pavlova, A., Genetic risk factors for inhibitors to factors VIII and IX (2006) Haemophilia, 12 (SUPPL. 6), pp. 15-22Margaglione, M., Castaman, G., Morfini, M., The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype (2008) Haematologica, 93, pp. 722-728Antonarakis, S.E., Rossiter, J.P., Young, M., Factor VIII gene inversion in sevee hemophilia A: results of an international consortium study (1995) Blood, 86, pp. 2206-2212Leiria, L., Roisenberg, I., Salzano, F., Bandinelli, E., Intron 1 and 22 invrsions and factor VIII inhibitors patients with severe haemophilia A in southern Brazil (2009) Haemophilia, 15, pp. 309-313Gouw, S., Van Der Bom, J.G., Van Den Berg, H.M., Influence of the type F8 gene mutation on inhibitor development in a single centre cohort of severe haemopilia A patients (2011) Haemophilia, 17, pp. 275-281Viel, K.R., Ameri, A., Abshire, T.C., Inhibitors of Factor VIII in black patients with hemophilia (2009) N Engl J Med, 360, pp. 1618-1627Santos, A., Annichino-Bizzacchi, J.M., Ozelo, M.C., Inhibitors of factor VIII in haemophilia (2009) N Engl J Med, 361, pp. 309-31

Volatile compounds and palynological analysis from pollen pots of stingless bees from the mid-north region of Brazil

ABSTRACT Samburá is the botanical pollen nectar agglutinated by salivary secretions of bees. Stingless bee pollen samples were collected in three periods of the year in Monsenhor Gil town, PI, Brazil, for extraction of volatile constituents by different techniques, analyzed by gas chromatography-mass spectrometry (GC-MS) and the palynological analysis used to identify the dominant pollen. Among the volatile compounds identified, kaur-16-ene, methyl and ethyl hexadecanoate, methyl linoleate and heneicosane were identified more frequently in the studied parameters: period of sample collection and extraction techniques used. The palynological analysis identified the pollen of Mimosa caesalpiniifolia Benth. as the dominant pollen in all samples studied