Neoplasia 1: Inherited Cancer Syndromes: Autosomal Dominant, Autosomal Recessive (AR), and Familial Flashcards

1
Q

Rb gene

A

Retinoblastoma

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2
Q

p53

A

Li-Fraumeni syndrome (various tumors) - elderly

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3
Q

p16/INK4A

A

Melanoma

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4
Q

APC

A

Familial adenomatous polyposis/colon cancer (By second decade)

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5
Q

BRCA1, BRCA2

A

Breast and ovarian tumors

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6
Q

MEN 1, RET

A

Multiple Endocrine Neoplasia 1 and 2

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7
Q

MSH2, MLH1, MSH6

A

Hereditary Nonpolyposis Colon Cancer (HNPCC)

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8
Q

PTCH

A

Nevoid Basal Cell Carcinoma Syndrome

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9
Q

PTEN

A

Cowden Syndrome (epithelial cancers)

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10
Q

LKB1

A

Peutz-Jegher Syndrome (epithelial cancers)

Hamartoma!

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11
Q

VHL

A

Renal Cell Carcinomas

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12
Q

ATM, ATR gene

A

Ataxia Telangiectasia (AR)

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13
Q

Bloom’s Syndrome (AR)

A

Lymphoma and Leukemia

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14
Q

Fanconi’s Anemia (AR)

A

Lymphoma and leukemia

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15
Q

Xeroderma Pigmentosum (AR)

A

Skin cancers

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16
Q

Ataxia Telangiectasia (AR)

A

Lymphoma, leukemia, and breast cancers

17
Q

Familial cancers

A

Colon, breast, and pancreas

18
Q

NF1, NF2

A

Neurofibromatosis 1 and 2