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Onc boards > Familial syndromes > Flashcards

Familial syndromes Flashcards

1
Q

BRCA1

A

Breast (often triple negative)
Ovarian
Prostate

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2
Q

BRCA2

A 
Breast
Ovarian
Prostate
Pancreatic
Melanoma
Gallbladder/bile duct
Stomach
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3
Q

TP53 (Li-Fraumeni)

A 
Breast (more likely HR-/Her2+)
Soft tissue sarcoma/osteosarcoma
Brain tumors
Adrenocortical cancer
Leukemia
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4
Q

PTEN (Cowden)

A 
Breast
Follicular thyroid
Endometrial
Colon
Renal
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5
Q

STK11 (Peutz-Jeghers)

A 
Breast
Colon
Pancreatic
Stomach
Small bowel
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6
Q

CDH1

A

Diffuse gastric cancer

Breast (mainly lobular)

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7
Q

PALB2

A

Breast

Pancreatic

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8
Q

MSH2, MLH1, MSH6, PMS2, EPCAM (HNPCC/Lynch syndrome)

A 
Colorectal
Endometrial
Ovarian
Pancreatic
Biliary
Gastric/small bowel
Ureter/renal pelvis
Glioblastoma
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9
Q

VHL

A 
Pheo
ccRCC
Pancreatic neuroendocrine tumor
Paragangliomas
Hemangioblastoma
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10
Q

APC (familial adenomatous polyposis)

A

Colon
Gastric/small bowel
Desmoid tumors
Medulloblastoma

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11
Q

BAP1

A

Uveal or cutaneous melanoma
Mesothelioma
ccRCC

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12
Q 
Fumarate hydratase (FH)
Hereditary leiomyomatosis and RCC (HLRCC)
A

Cutaneous and uterine leiomyomata

RCC, esp type 2 papillary

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13
Q

Folliculin (FLCN)

Burt-Hogge-Dube

A

Renal, esp chromophobe and oncocytoma
Pulmonary cysts (can have spontaneous PTX)
Cutaneous lesions

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14
Q

MEN1

A

Pituitary (prolactinoma)
Parathyroid
Pancreatic NET (insulinoma, VIPoma, glucagonoma, gastrinoma)

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15
Q

MEN2a (RET mutation)

A

Pheo
Medullary thyroid
Hyperparathyroidism

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16
Q

MEN2b (RET mutation)

A

Pheo
Medullary thyroid
Marfanoid habitus
Mucosal neuromas

17
Q

NF1

A

Malignant peripheral nerve sheath tumor
CNS gliomas
Cutaneous neurofibromas

18
Q

BRCA 1/2 breast cancer screening

A

Annual mammogram and breast MRI starting age 25-30

19
Q

PALB2 breast cancer screening

A

Annual mammogram and breast MRI starting age 30

20
Q

TSC 1/2

A 
RCC
Angiomyolipoma
Subependymal giant cell astrocytoma
Skin (angiofibromas)
Lymphangioleiomyomatosis (LAM)

Onc boards (24 decks)

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