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Comps > Cancer > Flashcards

Cancer Flashcards

1
Q

3 types of cancer (family assessment)

A
  1. sporadic (60%) 2. familial (30%) 3. hereditary (10%)
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2
Q

BRCA1/2 associated cancers (5)

A

breast (male & female) ovary prostate pancreatic melanoma

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3
Q

CDH1 associated cancers

A

breast (lobular) diffuse gastric cancer (most likely to metastasize to nearby tissues or bones) prostate colon & rectum Somatic mutations associated with : endometrial, ovarian, and prostate

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4
Q

HNPCC (Lynch syndrome) associated cancers (8)

A

colorectal uterine ovarian stomach gall bladder urinary tract small bowel brain/CNS

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5
Q

PTEN associated cancers (5) & other findings

A

breast kidney thyroid uterine colon other findings: hamartomatous overgrowth & skin lesions

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6
Q

Bannayan-Riley-Ruvalcaba syndrome

A

PTEN mutation clinical features: -macrocephaly -hamartomatous intestinal polyps -lipomas -hemangiomas -pigmented penile macules -DD -large birth weight -joint hyperextensibility -myopathic process in proximal muscles -Hoshimoto’s thyroiditis -multinodular goiter -thyroid adenoma non-medullary thyroid cancer

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7
Q

Proteus syndrome

A

PTEN mutation -ovarian cystadenomas, testicular tumors, menangiomas, monomorphic adenomas of parotid gland -hamartomatous tissue overgrowth -congenital malformation -hyperostosis (excessive growth of bone) -epidermal and connective tissue nevi which occur in a mosaic pattern

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8
Q

Lhermitte-Duclos disease

A

dysplastic gangliocytoma of the cerebellum adult onset occurs in patients with germline PTEN mutations (Tumor of the cerebellum)

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9
Q

STK11 associated cancers (8)

A

small intestine stomach pancreas colon esophagus breast lung ovary

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10
Q

Peutz-Jeghers syndrome

A

STK11 mutation hamartomatous polyps of the GI tract (small intestine, colon, stomach & rectum) mucocutaneous pigmentation

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11
Q

TP53 associated cancers (5)

A

sarcoma adrenocortical carcinoma breast leukemia brain tumors

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12
Q

Li-Fraumeni

A

TP53 mutation AD CHEK2 gene mutation (sometimes) childhood/young adult onset

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13
Q

ATM associated cancers (6)

A

breast stomach bladder pancreas lung ovary

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14
Q

ataxia-telangiectasia

A

ATM homozygous mutation hypersensitive to radiation

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15
Q

PALB2 associated cancers (2)

A

breast (male & female) ovary

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16
Q

Fanconi anemia

A

BRCA2, BRIP1, PALB2 and FANC genes homozygous -congenital malformations of the heart, renal system, and limbs -dermal pigmentary changes -predisposition to development of malignancies -progressive bone marrow failure resulting in anemia, leukopenia, and thrombopenia -hypersensitivity to DNA crosslinking agents

17
Q

CHEK2 associated cancers (9)

A

breast prostate lung colon kidney thyroid ovary brain tumors osteosarcoma

18
Q

Cowden syndrome associated cancers, gene, & features

A

PTEN mutation breast, kidney, thyroid (follicular), uterine & colon cancers associated features: -enlarged head -acral keratoses -oral papilomas -lipoma -colon polyps -thyroid nodules

19
Q

Lynch syndrome (HNPCC) associated genes

A

MLH1, MSH2, MSH6, PMS2, EPCAM

20
Q

Familial Adenomatous Polyposis associated gene & features

A

APC gene mutation features: -CHRPE epidermoid cysts supernumerary teeth duodenal polyposis >100 colorectal adenomatous polyps

21
Q

FAP associated cancers

A

colorectal other associated cancers: thyroid brain hepatoblastoma osteoma desmoid tumor adrenal gland adenoma duodenal adenoma

22
Q

Attenuated FAP (AFAP) associated gene, cancers & features

A

APC gene colorectal cancer 3-99 adenomas

23
Q

MUTYH adenomatous polyposis associated gene & features

A

MUTYH gene features: CHRPE 20-100 colorectal adenomatous polyps Autosomal recessive

24
Q

MUTYH adenomatous polyposis associated cancers

A

Colorectal other cancers: duodenal osteomas ovary bladder skin breast

25
Q

Juvenile polyposis syndrome associated genes & features

A

SMAD4 & BMPR1A genes other features: >3-5 juvenile polyps in colorectum or GI tract

SMAD4 also involved in HHT

26
Q

Juvenile polyposis syndrome associated cancers

A

colorectal other cancers: stomach small intestine pancreas

27
Q

Hyperplastic polyposis syndrome associated genes, cancer & features

A

KRAS & BRAF genes colorectal cancer features: large, right-sided polyps (KRAS) many small, left-sided polyps (BRAF)

These genes are also involved in Noonan syndrome

28
Q

Hereditary mixed polyposis syndrome associated genes, cancer & features

A

SCG5 & GREM1 genes colorectal cancer other features: mixed histology polyps including hyperplastic, adenomatous, and juvenile polyps

Comps (24 decks)

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