Hereditary Cancer Syndromes Flashcards

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1
Q

Colorectal
Endometrial
Ovarian

A

Lynch syndrome (HNPCC)

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2
Q

Lynch syndrome genes

Inactivation - tumor suppressors

A

MSH2
MLH1
MSH6
PMS2

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3
Q

Lynch syndrome neoplasms

A

Colorectal
Endometrial
Ovarian

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4
Q

Familal adenomatous polyposis gene

Inactivation - tumor suppressor

A

APC

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5
Q

Colorectal cancer
Desmoids and osteomas
Brain tumors

A

FAP

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6
Q

von Hippel Lindau syndrome

A

Hemangioblastomas
Clear cell renal carcinoma
Pheochromocytoma

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7
Q

von Hippel Lindau gene

Inactivation - tumor suppressor

A

VHL

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8
Q

Hemangioblastomas
Clear cell renal carcinoma
Pheochromocytoma

A

VHL syndrome

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9
Q

Li-Fraumeni syndrome

A
Sarcomas
Breast cancer
Brain tumors
Adrenocortical carcinoma
Leukemia
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10
Q

Li-Fraumeni gene

Inactivation - tumor suppressor

A

TP53

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11
Q
Sarcomas
Breast cancer
Brain tumors
Adrenocortical carcinoma
Leukemia
A

Li-Fraumeni syndrome

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12
Q

Multiple endocrine neoplasia type 1

A

Parathyroid adenomas
Pituitary adenomas
Pancreatic adenomas

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13
Q

Multiple endocrine neoplasia type 1 gene

Inactivation - tumor suppressor

A

MEN1

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14
Q

Parathyroid, pituitary, and pancreatic adenomas

A

MEN1

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15
Q

Multiple endocrine neoplasia type 2

A

Medullary thyroid cancer
Pheochromocytoma
Parathyroid hyperplasia (MEN 2A)
Mucosal neuromas (MEN 2B)

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16
Q

Multiple endocrine neoplasia type 2 gene

Activation - proto-oncogene

A

RET

17
Q

Medullary thyroid cancer
Pheochromocytoma
Parathyroid hyperplasia or mucosal neuromas

A

MEN 2A and 2B