MOLECULAR GENETIC MEDICINE

By STEVEN HERNANDEZ

CONTENTS 1 BASIC PRINCIPLES IN CANCER GENETICS 2 DEFINING GENETIC CHANGES ASSOCIATED WITH CUTANEOUS MALIGNANT MELANOMA 3 THE GENETICS OF BREAST AND OVARIAN CANCER 4 GENETICS OF VON HIPPEL-LINDAU DISEASE 5 GENETICS OF NF1 AND NF2 6 GENETICS OF GASTRIC CANCER 7 MULTIPLE ENDOCRINE NEOPLASIA TYPE I 8 MULTIPLE ENDOCRINE NEOPLASIA TYPE 2 9 TP53 IN CANCER ORIGIN AND TREATMENT 10 COLORECTAL CANCER 11 GENETICS OF PROSTATE CANCER 12 TUBEROUS SCLEROSIS COMPLEX 13 RETINOBLASTOMA: PATIENTS, TUMORS, GENE AND PROTEIN CONTRIBUTE TO THE UNDERSTANDING OF CANCER 14 GENETICS OF WILMS TUMOR 15 GENETICS OF NEUROBLASTOMA 16 GENETICS OF BRAIN TUMORS 17 MOLECULAR GENETICS OF LUNG CANCER 18 GENETICS OF LIVER CANCER 19 THE GENETICS OF BLADDER CANCER 20 GENETICS OF RHABDOMYOSARCOMA 21 ROLE OF TELOMERES AND TELOMERASE IN AGING AND CANCER BASIC PRINCIPLES IN CANCER GENETICS 1 INTRODUCTION IT IS NOW WELL ESTABLISHED THAT THE MALIGNANT PHENOTYPE IS GENETICALLY DETERMINED AND THAT INTERACTIONS BETWEEN THE ENVIRONMENT AND THE GENETIC MAKEUP OF A CELL CAN INFLUENCE THE COURSE OF SPECIFIC TUMORS IN CERTAIN CASES, MUTATIONS IN SPECIFIC GENES CONFER A PREDISPOSITION TO CANCER, AGAIN POINTING TO THE IMPORTANCE OF HIGHLY SPECIFIC GENETIC CHANGES IN THE DEVELOPMENT OF PARTICULAR TUMORS AS OUR UNDERSTANDING OF THE SERIES OF EVENTS WHICH TAKE PLACE DURING THE TRANSFORMATION OF A NORMAL CELL INTO A CANCER CELL IMPROVES, IT IS BECOMING CLEAR THAT CANCER CELLS EMPLOY A COMPLEX REPERTOIRE OF TRICKS, BOTH TO ESCAPE NORMAL CELLULAR GROWTH CONTROL AS WELL AS OVERCOME THE POWERFUL FORCES OF TERMINAL DIFFERENTIATION THE STUDY OF THE GENETIC EVENTS WHICH UNDERLIE THIS MECHANISM HAS BEEN A PRIORITY OF CANCER MOLECULAR GENETICISTS FOR MANY YEARS, WHERE THE EXPECTATION IS THAT, THROUGH A BETTER UNDERSTANDING OF THE MOLECULAR GENETIC EVENTS THAT CONTRIBUTE TO THIS COMMONLY FATAL COLLECTION OF DISEASES, INSIGHTS INTO NOVEL THERAPIES MAY EMERGE WHICH, IF NOT PROVIDE A CURE, WILL HOPEFULLY RETARD THE RAMPANT GROWTH OF MALIGNANT CELLS THAT AFFECTS 1 IN 4 ADULTS AND 1 IN