Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a further replication in an additional sample of 2,646 BRCA1 carriers. We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.7×10-8, HR = 1.14, 95% CI: 1.09-1.20). In addition, we identified two novel ovarian cancer risk modifier loci: 17q21.31 (rs17631303, P = 1.4×10-8, HR = 1.27, 95% CI: 1.17-1.38) and 4q32.3 (rs4691139, P = 3.4×10-8, HR = 1.20, 95% CI: 1.17-1.38). The 4q32.3 locus was not associated with ovarian cancer risk in the general population or BRCA2 carriers, suggesting a BRCA1-specific associat

Spontaneous vegetative endocarditis due to Enterococcus faecalis in a Rottweiler puppy

International audienceEine 5-monatige Rottweiler-Hündin wurde wegen Durchfall und eines plötzlich auftretenden Herzgeräusches in die Klinik überwiesen. Die definitive Diagnose einer bakteriellen Endokarditis wurde aufgrund sonografisch diagnostizierter vegetativer Herzläsionen und positivier Enterococcus faecalis-Kulturen im Blut und Urin gestellt. Ungünstige Nebenbefunde waren eine eitrige Nephritis und ein Niereninfarkt. Trotz Intensivbehandlung verschlechterten sich die klinischen Anzeichen der Endocarditis und der Hund musste euthanasiert werden.A 5-month-old female Rottweiler was referred because of a 5-week diarrhea and a sudden onset of a cardiac murmur auscultated by its veterinarian. Definitive diagnosis of bacterial endocarditis was based on ultrasonographic visualization of vegetative cardiac lesions and positive cultures of Enterococcus faecalis in blood and urine. Complicating findings were suppurative nephritis and renal infarction. Despite intensive supportive care, the endocarditis and clinical condition deteriorated and the dog had to be euthanized