Prostate cancer is the most common cancer in men and family history of cancer and age are the strongest contributing factors. We followed about 600,000 men from the Swedish Family-Cancer Database (world’s largest of its kind) for 10 years to design the Prostate Cancer Risk Assessment Model (PCRAM) for the first time, which enables clinicians […]
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Mutations in GRIP1 cause Fraser syndrome
Fraser syndrome (FS) is a rare genetically heterogeneous recessive disorder. FS patients are born with severe malformations affecting their eyes (cryptophthalmos), skin covering the digits (cutaneous syndactyly), respiratory tract, kidneys and genitals. The molecular defect underlying the majority of FS patients is unknown. Thus far mutations in two genes (FRAS1 and FREM2) are known to […]
Mutations in NLRP7 are associated with diploid biparental hydatidiform moles, but not androgenetic complete moles
Molar pregnancies are abnormal pregnancies in which the placenta develops excessively and there is no normal fetal development. They are important because molar tissue can easily develop into a placental tumour for which the patient would need chemotherapy. Molar pregnancies are usually chance (sporadic) occurrences but occasionally women have an inherited predisposition to these pregnancies […]
Promoter methylation in coagulation F7 gene influences plasma FVII concentrations and relates to coronary artery disease
Coagulation factor VII (FVII) is a clotting protein which triggers thrombus formation in the arterial vessels and modulates coronary artery disease (CAD) risk. Plasma FVII concentrations are largely determined by genetic markers as the A2 allele causing lower FVIIa and reduced CAD risk, or the -402A allele that induces higher FVIIa. Other mechanisms such as […]
Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele
An omphalocele is a birth defect affecting about 1 in 5000 live births and characterized by the internal organs located outside the abdomen. We conducted a genetic study using linkage analysis and microarray with quantitative microsphere hybridization techniques in a large family with multiple affected individuals and found a 710 kb duplication of chromosome band […]
Identification of YAP1 as a novel susceptibility gene for polycystic ovary syndrome
Polycystic ovary syndrome (PCOS), characterized by menstrual irregularity, hyperandrogenism and polycystic ovarian morphology, is the most common endocrinopathy in reproductive-aged women leading to anovulatory infertility. Its clinical manifestations and complications are well elaborated while the pathogenesis is obscure. In the current study, the authors took advantage of recently published genome-wide association study and proceeded replication […]
Keratinocytic epidermal nevi are associated with mosaic RAS mutations
Keratinocyte epidermal nevi (KEN) are benign congenital skin lesions that result from postzygotic mutations in mosaicism. Activating oncogenic mutations in FGFR3 and PIK3CA have been reported in approximately 40% of KEN and are absent from normal skin. However, the cause of the remaining cases is not known. Hafner et al. report that postzygotic mutations in […]
Correlation of tumor BRAF mutations and MLH1 methylation with germline MMR gene mutation status: a literature review assessing utility of tumor features for MMR variant classification
Lynch Syndrome is a heritable disorder characterized by increased risk of colorectal, endometrial and other cancers. It is caused by mutations in the DNA mismatch repair (MMR) genes. We conducted a literature review of published studies that investigated MMR gene mutation status and two tumor characteristics commonly used to exclude individuals with colorectal cancer from […]
Fabry International Prognostic Index: a predictive severity score for Anderson-Fabry disease
Anderson Fabry disease is a progressive and debilitating lysosomal storage disorder resulting from a deficiency of a lysosomal enzyme and progressive accumulation of storage material. It affects both males and females and can result in significant pain, bowel symptoms, hearing loss, rash and reduced life expectancy from renal failure, heart disease and stroke. A treatment […]
CDKN2A is the main susceptibility gene in Italian pancreatic cancer families
Pancreatic adenocarcinoma (PC) is the deadliest among common cancers. Because PC progresses rapidly, identifying individuals with a high genetic risk of developing PC is critical to better define emerging strategies for the detection of early lesions. PC is familial in roughly 10% of patients. Germline mutations in CDKN2A, the major melanoma susceptibility gene, are detected […]