Hereditary cancer syndromes Flashcards

1
Q

Breast and ovarian cancer; prostate, pancreatic, colorectal, melanoma, endometrial, gastric, biliary

A

BRCA1 and BRCA2

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2
Q

Lifetime ovarian cancer risk with BRCA1

A

40%

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3
Q

Lifetime breast cancer risk with BRCA1

A

57%

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4
Q

Lifetime ovarian cancer risk with BRCA2

A

18%

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5
Q

Lifetime breast cancer risk with BRCA2

A

57%

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6
Q

Breast and ovarian cancer; colon and rectal, stomach, small intestine, and pancreatic cancers

A

Peutz-Jeghers

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7
Q

Gene for Peutz-Jeghers

A

STK11

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8
Q

Breast cancer; sarcomas, brain cancer, leukemias, adrenocortical cancers

A

Li-Fraumeni

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9
Q

Gene for Li-Fraumeni

A

TP53

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10
Q

Breast cancer; endometrial, thyroid

A

Cowden

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11
Q

Gene for Cowden

A

PTEN

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12
Q

Colon, endometrial, ovarian, gastric

A

HPNCC (Lynch)

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13
Q

Gene for Lynch

A

MLH1, MSH2, MSH6, PMS2

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14
Q

Breast cancer; colorectal, prostate, male breast, thyroid, kidney

A

Hereditary breast cancer (CHEK2)

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15
Q

Breast cancer; pancreatic and prostate cancers

A

Hereditary breast cancer (PALB2)

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16
Q

Breast cancer; leukemias and lymphomas

A

Ataxia-telangectasia

17
Q

Gene for ataxia-telangectasia

A

ATM

18
Q

CHEK2: type of gene

A

Tumor suppressor (interacts with p53 and repairs DNA)

19
Q

Cancer associated with BRIP1 mutation

A

Ovarian (perform risk-reducing BSO)

20
Q

Cancer associated with RAD51C mutation

A

Ovarian (perform risk-reducing BSO)

21
Q

Inheritance patter of Cowden syndrome

A

Autosomal dominant