Disorder and Diseases Flashcards

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1
Q

mutations in oncogenes and tumor supressor genes

A

Cancer

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2
Q

mutation linked in breast(cancer)

A

BRCA1/2 genes

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3
Q

mutations in lung(cancer)

A

EGFR and KRAS Genes

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4
Q

mutation that involves translocation affecting genes

A

Leukemia

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5
Q

Treatment that targets rapid dividing cells(cancer cells)

A

Chemotherapy

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6
Q

Inherited mutations in the TP53 gene, leading to a high risk of cancer at an early age

A

Li-Fraumeni Syndrome

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7
Q

Mutation in RB1 gene, white reflection in the pupil(leukocoria), vision loss, eye redness. Can be treated with chemo, radiation, and enucleation

A

Retinoblastoma

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8
Q

caused by defect in nucleotide excision repair(NER), leading to inability to repair UV-induced DNA damage. Extreme sensitivity to UV light, high risk of skin cancer. Preventions: avoid sunlight, sunscreen, regular dermatology.

A

Xeroderma Pigmentosum(XP)

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9
Q

Mutation in ATM gene, results in lack of muscle coordination, small; dilated blood vessels), increased risk of leukemia and lyphoma. Treatments are physical therapy, immune system support, screening for early cancer detection

A

Ataxia-Telangiectasia(A-T)

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10
Q

Refers to any irregularity or dysfunction in the cell cycle

A

Disorder

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11
Q

Cell cycle malfunction (specific condition caused by dysfunction)

A

Disease

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