Cancer Genetics

Front

Ataxia Telangiectasia Gene

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ATM

Front

A-T lifetime risk of cancer

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30-40%

Front

A-T common malignancies

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non-Hodgkin lymphoma (typically B cell), leukemia, medulloblastomas, gliomas, gastric, uterine, BCC, breast

Front

contraindication for A-T

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radiation

Front

A-T clinical features

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• - cerebellar ataxia (early childhood)

  • - wheelchair by early adolescence

  • - slurred speech

  • -abn eye movements (oculomotor apraxia)

  • - vision problems

    • - CALs

    • - premature aging/graying

    • - telangiectases by age 5

    • - death by 45 typical

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ATM heterozygotes

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• - increased risk of breast cancer (females)

• - increased risk of radiation-induced DNA damage, leukemia, stomach cancer, colon cancer (males and females)

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Beckwith-Wiedemann inheritance

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• - AD, but 85% de novo

• - imprinting errors of 11p15 region including IGF2, H19, CDKN1C, KVLQT1, and LIT1 genes

Front

Beckwith-Wiedemann cancer risks

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• - 8% risk of malignancy, typically by age 5

• - Wilms' tumor, adrenocortical carcinoma, gonadoblastoma, hepatoblastoma, neuroblastoma, rhabdomyosarcoma

• - benign tumors also occur

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Beckwith-Wiedemann non-cancer features

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-macrosomia

• - earlobe creases/ear pits

• - macroglossia

• - omphalocele

• - visceromegaly of 1+ abdominal organ

• - hemihyperplasia

• - renal abnormalities

• - cleft palate (rare)

• - polyhydramnios, prematurity

Front

Birt-Hogg-Dube Gene

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FLCN