Cancer ABGC Study Set Questions and Answers 100% Pass

Cancer ABGC Study Set Questions and Answers 100% Pass HBOC Genes and Inheritance - ANSWER -- BRCA1, BRCA2 - Autosomal Dominant BRCA1 cancer risks - ANSWER -Primarily breast, Ovarian, Male Breast, Prostate, Pancreatic BRCA2 cancer risk - ANSWER -Breast, Ovarian, male breast, prostate, pancreatic, melanoma What ethnic population has an increased risk for HBOC And what is their carrier frequency - ANSWER -Ashkenazi Jewish - 1:40 individuals carry one of three founder mutations Carney Complex Keystone Features - ANSWER -- 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 2 | P a g e Created by Grace Amelia © 2025, All Rights Reserved. skin features - lentigines. generally around mucosal areas (lips, genitals, eyes) Follow Up care for HBOC positive - ANSWER -- 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 - ANSWER -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 - ANSWER -- 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) -Incomplete penetrance 3 | P a g e Created by Grace Amelia © 2025, All Rights Reserved. - Can also see lobular breast cancer and colorectal cancer HDGC Testing - ANSWER -30-50% of pathogenic variants detected through sequencing. 4% through gene targeted del/dup analysis HDGC Follow Up - ANSWER -- Prophylactic gastrectomy is recommended for CHD1 carriers between 18-40 years - Those who do not undergo surgery offered surveillance every 6-12 months through upper endoscopy HDGC Diagnostic Criteria - ANSWER -Clinical diagnosis. Must have endoscopy and one of the following: - fam hx one or more 1st or 2nd degree with gastric cancer - personal/family hx of DGC before 40 - Per/fam hx of DGC and LBC, one diagnosed before 50 Gardner Syndrome - ANSWER -Form of FAP - Has features of FAP plus : Dental abnormalities, osteomas Cowden Syndrome Genes and Inheritance - ANSWER -PTEN 4 | P a g e Created by Grace Amelia © 2025, All Rights Reserved. - Autosomal Dominant Cowden Syndrome Keystone Features - ANSWER -- Macrocephaly - Autism/Devo Delay - Intestinal Hamartomatous polyps (45% of cases) - Lipomas - Pigemented macules of penis - Hashimotos - Vascular Malformations - ID - Scoliosis (50%) - Increased Cancer Risks Cowden syndrome cancer risks - ANSWER -- Breast 85% - Thyroid % - Endometrial 28% - Kidney % - Colon 9% Mechanism of Disease for Cowden - ANSWER -PTEN(80%) - Tumor suppressor gene that modulates G1 progression through negative regulation of the PI3K/AKT pathway - Loss of PTEN or mutations in its promotor region 5 | P a g e Created by Grace Amelia © 2025, All Rights Reserved. KLLN Epimutations - 30% of CS without PTEN - killin protein is transcription factor playing a role in p53 apoptosis Diagnostic Criteria for Cowden Syndrome - ANSWER -Pathogenic mucocutaneous lesion combined with one of the following - six or more facial papules, more than three of which must be trichilemmoma - Cutaneous facial papules and oral mucosal papillomatosis - Oral mucosal papillomatosis and acral keratosis - six or more palmoplanter feratoses Pathognomonic criteria for Cowden - ANSWER --Adult Lhermitte-Duclos disease, defined as the presence of a cerebellar dysplastic gangliocytoma -Mucocutaneous lesions --Trichilemmomas (facial), --acral keratoses --Papillomatous lesions --mucosal lesions Types of Leukemia - ANSWER -- Acute myeloid leukemia (AML) - Chronic Myeloid Leukemia (CML) 6 | P a g e Created by Grace Amelia © 2025, All Rights Reserved. - Acute Lymphocytic Leukemia (ALL) - Chronic Lymphocytic Leukemia (CLL Acute myeloid leukemia (AML) - ANSWER -Bone marrow makes blast cells that are not completely matured. These are precursor cells that fail to develop into WBC and therefore cannot fend off infection. Can also have abnormal RBC and platelet development crowding out normal cells Chronic Myeloid Leukemia (CML) - ANSWER -- Typically slow growth and spread but can become rapid and acute - Associated with Philadelphia chromosome (chr9/22 rearrangement). Causes the breakage of BCR and ABL genes Acute Lymphocytic Leukemia (ALL) - ANSWER --Progresses rapidly and replaces health