Download Genetic Counseling Boards (Cancer) Exam With 100% Correct And Verified Answers 2024 and more Exams Advanced Education in PDF only on Docsity! Genetic Counseling Boards (Cancer) Exam With 100% Correct And Verified Answers 2024 Fanconi anemia (genes and symptoms). Which FANC gene is BRCA2? - Correct Answer-FANCA, B, C, D (BRCA2), E, F, G --- Also RAD41C, PALB2, and BRIP1 Mostly AR but some X-linked Short stature, skeletal abnormal., abnl pigmentation, AML, tumors oral and others (20- 30% by 50), radial polydactyly Need stem cell transplant! DICER1 syndrome (associated cancers) - Correct Answer-LOKTO 20% cancer risk (40% for females) Lung- PBB Ovarian- Setoli-leydig Kidney- Cystic nephroma and Wilms Thyroid- Differentiated thyroid cancer Other- Rhabdomyosarcoma and pineobastoma Hereditary Retinoblastoma - Correct Answer-RB1 gene (1st tumor suppressor gene described) RB+family hx= 100% of having mutation unifocal RB= ~14%/ bilateral RB= ~100% 30-40% heritable and 80% de novo Also part of 13q del syndrome Retinoblastoma is the most common eye tumor in kids (before 5) ---WATCH for flash photography Other cancers- pineoblastoma, sarcomas, melanoma, and lung Wilms tumor (nephroblastoma) - Correct Answer-10% heritable Familial Wilms - WTI gene AD Also consider Beckwith-Weidemann, isolated hemi-hypertrophy, WAGR (microdel), Denys-Drash (high risk for Wilms and ambig. baby boy genitalia) syndrome, and Frasier syndrome Young age of diagnosis and often bilateral Bloom Syndrome - Correct Answer-BLM gene AR Chromosomal breakage syndrome IUGR, hyper and hypopigmentation, sensitivity to sun (butterfly rash on face), possible infertility in males Shwachman-Diamond syndrome (symptoms) - Correct Answer-AR SBDS gene 2nd most common cause of pancreatic insuff in kids (CF is first) Diarrhea, short stature, eczema Cancer risks similar to FA (this is also chromosome breakage) Adenomatous polyps Hyperplastic polyps Hamartomatous polyps Sessile serrated polyps Juvenile polyps - Correct Answer-Adenomatous- cancer precursor Hyperplastic- typically benign (skin tag) Harmatomatous- normal tissue growing in the wrong place Sessile- pre-malignant (genetic testing not typically fruitful) Juv- combo pathology FAP - Correct Answer-APC gene, 30% de novo, protein truncating >100 polyps (adenomas) 90% upper GI, desmoid, osteoma, thyroid (papillary), brain, hepatoblastoma, CHRPE attenuated form in 20 polyps (CRC in 50s) NO CHRPE founder AJ mutation I1307T (similar risk to having first degree relative with CRC--- no polyposis, but risk for colon cancer) CHRPE, extra teeth, and epidermoid cysts= Gardners Brain= Turcot Start colonoscopy @ 10 -TEST YO KIDS MUTYH-associated polyposis (MAP) - Correct Answer-AR >15 and <100 polyps 1% carrier --- Y165C is European founder Can also see duodenal cancer, ovarian, bladder, skin What are these moderate risk genes associated with? NTHL1 POLD1 POLE GREM1 - Correct Answer-Colon cancer Lynch Syndrome (HNPCC) Does mutation in BRAF make lynch more or less likely? Mutations in EPCAM lead to inactivation of...? - Correct Answer-95% are MSI high- most of the time absent proteins means lynch, but not always Less
