A 50-year-old woman who has a family history of breast cancer presents with a 6-month history of increasing abdominal girth. On close questioning, she volunteers a history of vague abdominal pain dating back 1 year. She has no children and has never been pregnant. Bimanual pelvic examination reveals a 10-cm right adnexal mass. Percussion of the abdomen indicates ascites. Aspiration cytology of the ascites fluid reveals malignant papillary structures with psammoma bodies. A mutation in which of the following genes is most likely associated with this patient's malignant disease?
Malignant papillary structures and psammoma bodies (laminated calcified concretions) in a patient with ascites is most compatible with the diagnosis of papillary serous cystadenocarcinoma of the ovary. The same gene implicated in hereditary breast cancers, namely BRCA1, has been incriminated in the pathogenesis of familial ovarian cancer. Women who bear BRCA1 gene mutations tend to develop ovarian cancer considerably earlier than women who have sporadic ovarian cancer, but their prognosis is considerably better. Mutations in the WT-1 tumor suppressor gene (choice E) are related to Wilms tumor.Diagnosis: Ovarian cancer, papillary serous cystadenocarcinoma
BRCA1
p53
Rb
VHL
Female Genital Tract