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ABSITE > Germline Mutations > Flashcards

Germline Mutations Flashcards

1
Q

TP53

A

Li-fraumeni

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2
Q

Li-fraumeni associated with what cancers?

A

Breast, OSTEOSARCOMA, soft tissue sarcomas, brain, adrenal, Wilms tumor, pancreatic

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3
Q

MENIN gene associated with what cancers?

A

Pancreatic, parathyroid, pituitary

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4
Q

MEN2A associated with what cancers?

A

Medullary thyroid cancer(removed by age 5), pheochromocytoma, parathyroid hyperplasia

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5
Q

MEN2B associated with what gene?

A

RET

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6
Q

MEN2B associated with what cancers?

A

Medullary thyroid, cancer, pheochromocytoma, mucosal neuromas, marfanoid habits

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7
Q

STK11

A

Peutz-Jegher

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8
Q

Peutz-Jegher associated with what cancers?

A

G.I. cancers, breast, testicular, pancreatic

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9
Q

RB1

A

Retinoblastoma
Sarcoma, melanoma, brain cancer

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10
Q

VHL

A

Von Hippel-Lindau syndrome
Associated with renal cell carcinoma, retinal, and CNS tumors, pheochromocytoma

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11
Q

MLH1

A

Turcot syndrome
Hereditary, non-polyposis colorectal cancer
Associated with colorectal, cancer, endometrial, transition, cell carcinoma, stomach, small, bowel, pancreas, ovary

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12
Q

MSH2

A

Hereditary, non-polyposis colorectal cancer
Associated with colorectal, cancer, endometrial, transition, cell carcinoma, stomach, small, bowel, pancreas, ovary

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13
Q

MSH6

A

Hereditary, non-polyposis colorectal cancer
Associated with colorectal, cancer, endometrial, transition, cell carcinoma, stomach, small, bowel, pancreas, ovary

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14
Q

PMS1 and PMS 2

A

Hereditary, non-polyposis colorectal cancer
Associated with colorectal, cancer, endometrial, transition, cell carcinoma, stomach, small, bowel, pancreas, ovary

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15
Q

CDK4

A

Familial melanoma
Associated with melanoma, pancreatic cancer, atypical moles

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16
Q

p16

A

Familial melanoma
Associated with melanoma, pancreatic cancer, atypical moles

17
Q

PTEN

A

Cowden disease
Breast, endometrium, thyroid CA

18
Q

CDH1

A

Hereditary gastric cancer and invasive lobular breast cancer

19
Q

MutY homolog-associated polyposis gene mutation

A

MUTY

20
Q

MUTY associated cancers

A

Adenomatous, R-sided colon polyps
Duodenal
Breast
Ovarian
Bladder

21
Q

SMAD4 association

A

Juvenile polyposis syndrome

22
Q

SMAD4 associated cancers

A

Gastric and pancreatic
Hereditary tenahjectasias

23
Q

Gene associated with hereditary pancreatitis

A

PRSS1

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