Cancer ABGC Study Set (GUARANTEED A+)

HBOC Genes and Inheritance correct answers - BRCA1, BRCA2 - Autosomal Dominant BRCA1 cancer risks correct answers Primarily breast, Ovarian, Male Breast, Prostate, Pancreatic BRCA2 cancer risk correct answers Breast, Ovarian, male breast, prostate, pancreatic, melanoma What ethnic population has an increased risk for HBOC And what is their carrier frequency correct answers Ashkenazi Jewish - 1:40 individuals carry one of three founder mutations Carney Complex Keystone Features correct answers - Increased risk for benign tumors -- Cardiac Myxoma (can block flow of blood through heart causing health issues and even sudden death. Have tendency to recur when removed - Can develop endocrine tumors such as adrenal tumors - can develop primary pigmented nodular adrenocortical disease (PPNAD). PPNAD cause increased cortisol production and leads to weight gain in the face, upper body, slowed growth in children, fragile skin and fatigue skin features - lentigines. generally around mucosal areas (lips, genitals, eyes) Follow Up care for HBOC positive correct answers - Clinical breast exams every 6-12 months starting at 25 - Annual MRI starting at 25 - Alternating mammograms and MRIs starting at 30 - Consider risk reducing mastectomy - Consider risk reducing saplingo-oopherectomy (35-40 BRCA1 and 40-45 in BRCA2) Hereditary Diffuse Gastric Cancer (HDGC) genes and inheritance correct answers CDH1: 30-50% of families have a germline variant. Tumor suppressor gene PALB2: Shown to predispose to breast cancer and susceptibility for gastric cancer. - Autosomal dominant inheritance. Second somatic hit necessary Hereditary Diffuse Gastric Cancer (HDGC) keystone phenotypic features correct answers - Poorly differentiated adenocarcinomas - Non-specific symptoms (vomiting, abdominal pain, weight loss, loss of appetite). Generally once cancer has significantly progressed - Age of onset 14-69 but typically before 40 (38 average)