Syndromes Flashcards by Anne Engbers | Brainscape

Q

Lynch

A

MLH1, MSH2, MSH6, PMS2

CRC, endometrial, ovarian, urothelial, stomach cancer

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Q

MAP

A

MUYTH
Autosomal recessive
>1000 polyps

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Q

Screening MAP

A

> 18 years

1x/2years

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Q

MAP has high risk of

A

CRC, ovarian, bladder and skin cancer

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Q

FAP

A

APC
Autosomal dominatn
>100 polyps

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Q

Screening FAP

A

10-12 years

1x/2years

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Q

Hereditary stomach cancer

A

CHD1

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Q

Cowden Syndrome

A

PTEN

Bigger head circumference, fat bumps

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Q

Peutz Jeghers

A

STK11

Pigmentation of mouth and lips

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Q

Neurofibromatosis

A

NF1, NF2

Cafe au lait spots

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Q

Von Hippel Lindau

A

HPL

Swelling of vessels, renal cysts

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Q

POLE/POLD1

A

Autosomal dominant

<0.1% CRC

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