Genetics & Cancer Lecture Notes

These flashcards cover the key vocabulary from the Genetics & Cancer lecture notes, including important genetic disorders and cancer-related concepts.

Marfan Syndrome

A genetic disorder affecting connective tissue, characterized by long limbs and cardiovascular issues.

Neurofibromatosis

A genetic disorder that causes neurogenic tumors due to mutations, typically found on chromosome 17.

Phenylketonuria (PKU)

An autosomal recessive metabolic disorder due to deficiency of phenylalanine hydroxylase, resulting in elevated phenylalanine.

Tay-Sachs Disease

An autosomal recessive condition leading to lipid accumulation in CNS, primarily affecting infants.

Multifactorial Inheritance Disorders

Conditions caused by multiple genes and environmental factors, e.g., cleft lip and heart diseases.

Aneuploidy

Abnormal number of chromosomes, such as in Turner syndrome (monosomy X) and Klinefelter syndrome (XXY).

Oncogenesis

The process of tumor formation, involving mutations in oncogenes and tumor suppressor genes.

Metastasis

The spread of cancer cells to distant sites from the original tumor through lymphatic or blood circulation.

Proto-oncogenes

Normal genes that, when mutated, become oncogenes leading to increased cell division.

Tumor markers

Substances produced by cancer cells used for screening, diagnosing, and monitoring response to treatment.