William D. Foulkes

Making a diagnosis of a rarely seen condition can be difficult for a pathologist, especially when key clinical and molecular observations are not available to them. We present an illustrative example. A 33-year-old woman presented to medica…

Background: Endometriosis affects an estimated 10% of reproductive-aged women and is associated with increased ovarian cancer risk. While BRCA1/2 mutations are established risk factors for ovarian cancer, their association with endometriosi…

PurposeIt is uncertain whether, and to what extent, hormonal contraceptives increase breast cancer (BC) risk for germline BRCA1 or BRCA2 mutation carriers.MethodsUsing pooled observational data from four prospective cohort studies, associat…

BackgroundSarcomas in adults can be associated with hereditary cancer syndromes characterized by early-onset predisposition to numerous types of cancer. Because of variability in familial presentation and the largely unexplained genetic bas…

Investigation of genetic changes in tumours by loss of heterozygosity (LOH) is a powerful technique for identifying chromosomal regions that may contain tumour suppressor genes. LOH has been described on chromosome 6 in ovarian carcinoma us…