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Oncology boards > Hereditary cancer syndromes > Flashcards

Hereditary cancer syndromes Flashcards

1
Q

VHL associated malignancies

A
  • clear cell RCC
  • Hemangioblastoma
  • pheochromocytomas
  • retinal angiomas
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2
Q

Birt-hogg-dube syndrome gene mutation

A

folliculin (FLCN) gene

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3
Q

Birt-hogg-dube syndrome associated malignancies

A
  • clear cell RCC
  • chromophobe RCC
  • spontaneous PTX
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4
Q

Tuberous sclerosis gene mutations

A

TSC1, TSC2

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5
Q

Tuberous sclerosis associated malignancies

A
  • clear cell RCC
  • angiomyolipomas
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6
Q

Hereditary papillary RCC gene mutation

A

CMET

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7
Q

BAP1 associations

A
  • clear cell RCC
  • cutaneous and uveal melanoma
  • mesothelioma (often peritoneal)
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8
Q

Gene mutation and pathologies associated with hereditary paraganglioma and pheocromocytoma syndrome

A

succinate dehydrogenase
- clear cell RCC + pheochromocytomas

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9
Q

MEN1 associated

A

3ps
pituitary adenomas
parathyroid adenomas
pancreatic islet cell tumors (VIPomas, Gastrinomas, insulinomas)
*Also carcinoid and adrenal tumors

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10
Q

MEN2 mutations

A

RET mutations

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11
Q

MEN2A malignancies

A
  • medullary thyroid
  • pheos
  • primary parathyroid hyperplasia
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12
Q

MEN2B

A
  • medullary thyroid
  • pheos
  • mucosal neuromas
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13
Q

MEN2B management

A

thyroidectomy before age 6
screen for pheos and hyperparathyroidism

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14
Q

MUTYH polyposis associated malignancy

A

Increased risk of CRC

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15
Q

Peutz jeghers syndrome gene mutation

A

STK11

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16
Q

Peutz jeghers associated malignancies

A
  • breast
  • CRC
  • gastric
  • pancreatic
  • ovarian
  • lung
  • *GI hamartomas
  • mucutaneous pigmentation (SEE PHOTO online, will prob show photo)
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17
Q

NF1 associated malignancies

A
  • GIST
  • peripheral nerve sheath tumors
  • breast cancer
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18
Q

PALB2 associated malignancies

A
  • pancreatic
  • Male breast cancer
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19
Q

Which ovarian pts need germline testing?

A

universal

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20
Q

Li fraumeni associated maligancies

A
  • breast
  • sarcoma
  • brain tumors
  • adrenocortical
  • leukemia
  • multiple primaries
  • radiation induced malignancies
  • aggressive prostate cancer
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21
Q

Li fraumeni screening

A
  • NO XRT
  • MRI over CT to avoid radiation exposure
  • Breast
  • annual brain MRI
  • ***annual whole body MRI annually
  • endoscopy
  • routine skin checks
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22
Q

MSI pattern associated with hypermethylation pathway AND significance of BRAF in association

A
  • loss of MLH1
  • loss of PMS2
    *BRAF mutant indicates sporadic
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23
Q

Lynch associated malignancies

A
  • colon
  • *endometrial
  • ovarian
  • prostate
  • gastric
  • small bowel
  • CNS (glioma)
  • bladder (UTUC)
  • pancreatic
  • sebaceous skin tumors
  • rarely breast
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24
Q

Lynch screening for colon and uterine

A
  • colonoscopy q1-2 yrs starting at age 20-25
  • salipingo-oophorectomy once child bearing complete
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25
Q

FAP gene mutation

A

APC

26
Q

FAP associated malignancies

A
  • early onset CRC
  • small bowel cancer
  • gastric
  • pancreatic
  • desmoid
27
Q

FAP mgmt

A
  • annual c-scope starting at age 10-15
  • total colectomy
  • CT or MRI looking at desmoid tumors
28
Q

BRCA1 chromosome

A

chromosome 17

29
Q

BRCA2 chromosome

A

chromosome 13

30
Q

BRCA subtype associated with higher risk of breast and ovarian and with TNBC

A

BRCA2

31
Q

BRCA2 other malignancies

A
  • gastric
  • biliary
  • melanoma
32
Q

BRCA screening for breast cancer

A
  • mammos starting at age 30
  • MRI breast at age 25
  • NO routine vaginal US or CA125
33
Q

BRCA2 mgmt for prostate cancer

A
  • prostate cancer screening at age 40
34
Q

Cowden syndrome gene mutation

A

PTEN

35
Q

Cowden syndrome malignancies

A
  • mucocutaneous lesions
  • macrocephaly
  • breast tumors
  • endometrial
  • thyroid
  • CRC
  • RCC
  • Melanoma
36
Q

Cowden syndrome screening

A
  • MRI and mammos starting at age 30
  • annual thyroid US starting at age 7
  • Colonoscopy starting at age 35
37
Q

Alternative name for Lynch

A

Hereditary nonpolyposis colorectal cancer syndrome

38
Q

Gardner syndrome is a subtype of what disorder

A

FAP

39
Q

ATM associated malignancies

A
  • pancreatic cancer
  • prostate cancer
  • stomach cancer
  • invasive ductal carcinoma of the breast
40
Q

Radiation in prostate cancer SE’s

A
  • bowel dysfunction
  • urinary frequency, incontinence, nocturia
41
Q

Radical prostatectomy in prostate cancer SE’s

A
  • urinary incontinence
  • *erectile dysfunction
42
Q

degarelix, relugolix mechanism

A

GnRH antagonists

43
Q

ADT duration for high risk disease

A

2 years

44
Q

Goserelin, triptorelin mechanism

A

GNHR/LHRH agonists

45
Q

Malignancy patients with fanconi anemia are at increased risk of

A
  • head and neck cancer
46
Q

Answer to next step up after diagnosis of cancer in patient with Fanconi Anemia clinical features

A
  • chromosome breakage test (severe toxicities from chemo)
47
Q

Additional screening required for CDKN2A mutant patients

A

MRCP + EUS for pancreatic cancer

48
Q
A
49
Q
A
50
Q

When germline testing is indicated for CRC

A

age <50

51
Q

High risk breast cancer screening - age + screening

A

Starting at age 30 - MRI and mammogram annually but staggered by 6 months so get imaging every 6 months

52
Q

Role of chemoprevention in high risk breast cancer patients

A

IF BRCA wildtype, tamoxifen
IF BRCA1, no chemoprevention
IF BRCA2, tamoxifen (reduces breast cancer by 50% but only prevents hormone receptor)

53
Q

Indications for germline testing in breast

A

Given metastatic disease OR triple negative any age OR diagnosis at age <50 OR multiple primary BC OR male OR Ashkenazi Jewish ancestry OR lobular with personal or FH h/o diffuse gastric OR >1 first degree relative with breast cancer <50/male breast/ovarian/pancreatic/high risk prostate OR >3 diagnosis of breast/prostate on same side of family (first and second degree) including the pt w/ breast cancer

54
Q

Screening required for FAP patients

A
  • colonoscopy starting in teenage years
  • colectomy as polyps arise
  • Following colectomy, EGD
  • annual thyroid exams
  • annual abdominal exam for desmoid tumors
55
Q

CDH1 mutation 1) management 2) associated malignancies

A

Poppy sitting on steps/prostate cancer. CD’s all over floor/CDH1. Prophylactic gastrectomy recommended/T on the operating table in middle of room and surgeon cutting stomach out. BDSM chick with whip in front of doorway/autosomal dominant.

56
Q

CHEK2 associated malignancies

A

Coded character: Dr. Cerny
Location: Josh’s room
Scene: He has huge tits + gastric cancer patietn sitting at Josh’s desk + bill roebuck standing in wall + poppy + bones covering floor + Kathleen laying naked on floor /associated malignancies = breast + stomach + prostate + kidney + sarcoma + plasma cell neoplasms.

57
Q

Risk of ovarian cancer in BRCA1 and 2

A

1 = 40-60% (much higher)
2 = 13-29%

58
Q

Risk of contralateral breast cancer in BRCA1 and 2 pts

A

1 = 30-40%
2 = 25%

59
Q

RAD51c associated malignancies

A

Breast (especially triple negative)
Ovarian

60
Q

RAD51c management

A
  • annual mammo starting at age 40
  • BSO at age 45

Oncology boards (41 decks)

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