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Clinical Science > Hereditary Genetics Syndromes > Flashcards

Hereditary Genetics Syndromes Flashcards

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1
Q

Which cancers have genetic linkages?

A
  • colorectal cancer
  • prostate cancer
  • pancreatic cancer
  • ovarian cancer
  • breast cancer
  • malignant melanoma
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2
Q

What is the most common cancer in women worldwide?

A

breast cancer

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3
Q

What is the second most deadly cancer after lung cancer?

A

breast cancer

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4
Q

What is the lifetime risk for breast cancer?

A

10-13%

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5
Q

What percentage of breast and ovarian cancer are attributed to genetics?

A

only 5-10%

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6
Q

What are risks as predictors of breast cancer?

A
  1. age
  2. gender
  3. family history
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7
Q

Hereditary breast cancer is caused by?

A

pathogenic variant of either BRCA1 or BCRA2

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8
Q

Hereditary breast cancer has what type of inheritance pattern?

A

autosomal dominant with high penetrance

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9
Q

Who can carry pathogenic variants in BCRA1 and BRCA2?

A

Men and women

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10
Q

Increased risks of hereditary breast cancer due to what in certain groups?

A

founder effect

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11
Q

BRCA1 and BRCA2 mutations are more prevalent in which population?

A

Ashkenazi Jews

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12
Q

Who do you have to review when you have an Ashkenazi Jew who has hereditary breast cancer?

A
  • review both sides of the family
  • if either one first-degree relative has been diagnosed with breast cancer OR two second-degree relatives
  • consider genetic counseling
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13
Q

What genes are tumor suppressor genes that:
- control cell growth and death
- repair damaged DNA/preserve chromatid structure
- genomic stability
- transcription regulation
- cell cycle control

A

BRCA1 and BRCA2

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14
Q

Increased translocations, inversions, deletions, and fusions of non-homologous chromosomes is consistent with what?

A

cells with abnormal or deficient BRCA1/2

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15
Q

What types of cancers are associated with BRCA1 and BRCA2 mutations?

A
  • breast cancer (male and female)
  • ovarian, fallopian, or primary peritoneal
  • pancreatic
  • prostate
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16
Q

Which BRCA mutation is associated with a higher lifetime risk of cancer?

A

BRCA 1

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17
Q

In male breast cancer, the BRCA2 mutation increases lifetime risk to what?

A

2-7% (from 0.1%)

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18
Q

The main age of diagnosis of cancer is younger with which BRCA mutation?

A

BRCA1

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19
Q

Men with HBOC has an increased susceptibility to what?

A
  • breast cancer
  • skin cancer
  • prostate
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20
Q

Men with HBOC have a higher risk with which BRCA mutation?

A

BRCA 2

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21
Q

What should you suspect with any of the following:
-onset of breast cancer prior to 50
-breast cancer at any age with Ashkenazi Jewish ancestry
-multiple primary breast cancers in one or both breasts
-two or more relatives with breast cancer, one diagnosed at or before age 50
-three or more breast cancer relatives
-male breast cancer
-“triple negative” receptor breast cancer
-ovarian cancer
-pancreatic or prostate cancer combined with breast or ovarian cancer in family/individual
-known familial mutation of HBOC

A

HBOC

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22
Q

What is the 2nd most common gynecologic malignancy?

A

ovarian cancer

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23
Q

What is the main common cause of gynecologic cancer death?

A

ovarian cancer

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24
Q

Approximately what percent of ovarian cancers are related to HBOC?

A

20%

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25
Q

Women with what mutations have more multifocal disease and more aggressive tumors for ovarian cancer?

A

BRCA 1 and BRCA 2 mutations

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26
Q

What are these common symptoms associated with?
-feeling full quickly after starting to eat
-pain in pelvis or abdomen
-bloating
-more urgent or frequent urination

A

ovarian cancer

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27
Q

Who should you test for HBOC mutations?

A

women with a personal or family history of breast, ovarian, tubal, or peritoneal cancer or an ancestry associated with BRCA1/2 gene mutations

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28
Q

Who should you not recommend to get tested for HBOC mutations?

A

women whose personal or family history is not associated with potential harmful BRCA1/2 gene mutations

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29
Q

What are some risk assessment tools for HBOC?

A
  • gail model 2 (used in practice and research; not appropriate with BRCA mutations)
  • breast and ovarian analysis of disease incidence and carrier estimation algorithm (used to calculate specific HBOC risk, primarily used in research)
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30
Q

What does an ambiguous genetic test result for HBOC mean?

A

mutation in either BRCA1 or BRCA 2 that has uncertain link to HBOC

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31
Q

Management of HBOC breast cancer in women with BRCA 1/2 mutations should consist of what?

A

age 25:
- clinical exam every 6-12 months
age 25-29:
- annual mri with contrast or mammogram
age 30-75:
- annual mammogram and mri with contrast
age >75:
- considered on individual basis

discuss option of risk-reducing mastectomy, consider risk reducing agents

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32
Q

Management of HBOC breast cancer in males with BRCA1/2 mutations should consist of what?

A

age 35:
- self exam training and education
- clinical breast exam, every 12 months

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33
Q

Management of HBOC ovarian cancer with BRCA 1/2 mutations should consist of what?

A
  • risk reducing salpingo-oophrectomy
  • age 35-40, upon completion of child bearing
  • RRSO could be delayed in BRCA2 carriers until age 40-45 because of later age onset
  • consider risk reducing agents
  • transvaginal ultrasound and CA-125 maybe at the clinicians discretion
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34
Q

Management of HBOC prostate cancer with BRCA 1/2 mutations should consist of what?

A

age 45:
- recommended screening for BRCA2 carriers
- consider screening for BRCA1 carriers

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35
Q

Management of HBOC pancreatic cancer and melanoma with BRCA 1/2 mutations should consist of what?

A
  • individualized based on family history
36
Q

What is the average age for colorectal cancer?

A
  • males: 68
  • females: 72
37
Q

What is the lifetime risk of colorectal cancer in the general population?

A

5%

38
Q

Rates of what cancer is higher in males and african-americans?

A

colorectal cancer

39
Q

Incidence of colorectal cancer is higher in people of lower socioeconomic status due to what?

A
  • physical inactivity/obesity
  • poor diet
  • tobacco use
  • lower rates of colorectal screening
40
Q

What is colorectal cancer highly influenced by?

A

genetics, diet, and environment

41
Q

What are these symptoms associated with:
- hematochezia or melena (black stool)
- unexplained weight loss
- prolonged diarrhea or constipation
- cramping abdominal pain
- abdominal distention, gas pain, distention, fullness
- vomiting
- decreased energy

A

colorectal cancer

42
Q

One of the first signs of colorectal cancer may be what?

A

anemia

43
Q

New onset anemia in an elderly patient is what until proven otherwise?

A

colon cancer

44
Q

What are the different types of polyps?

A
  • adenomatous (higher risk of cancer)
  • non-adenomatous (some cancer risk(
  • inflammatory (no cancer risk)
45
Q

What percent of CRC is familial?

A

15-30%

46
Q

Hereditary CRC can be a result of what?

A

single gene or multiple gene mutations (and combo of genetics and environmental factors)

47
Q

What are the two hereditary colorectal cancer syndromes?

A
  • familial adenomatous polyposis (FAP)
  • hereditary nonpolyposis colorectal cancer (HNPCC)
48
Q

What are the two types of FAP?

A
  • classic FAP
  • attenuated FAP
49
Q

What genes are associated with both classic and attenuated FAP?

A
  • APC gene
  • MYH/MUTYH gene
50
Q

What gene is associated with the most common mutation in FAP?

A

APC gene (adenomatous polyposis coli gene)

51
Q

What does the normal APC gene do?

A

regulates cell division and act as tumor suppressor

52
Q

FAP associated with the APC gene has what type of inheritance pattern?

A

autosomal dominant with near complete penetrance (25% are de novo)

53
Q

What type of FAP gene is less common than APC mutations?

A

MYH/MUTYH gene

54
Q

What does the normal MYH/MUTYH gene do and what does the variant do?

A

tumor suppressor and variant results in DNA damage due to base pair mismatch

55
Q

FAP associated with the MYH/MUTYH gene has what type of inheritance pattern?

A

autosomal recessive

56
Q

What is the lifetime risk of colon cancer in classic FAP?

A

100%

57
Q

In affected FAP pts, what is the average age of onset of colon cancer?

A

39

58
Q

Classic FAP has how many polyps?

A

greater than 100, can be thousands

59
Q

Once diagnosis of classic FAP is established, what is recommended?

A

colectomy, usually before 20

60
Q

Individuals with attenuated FAP develop how many polyps?

A

fewer, typically less than 100

61
Q

What age do polyps develop in individuals with attenuated FAP?

A

44 years old

62
Q

What is the lifetime risk of colon cancer in individuals with attenuated FAP?

A

70-80%

63
Q

What is the mean age of colon cancer with AFAP?

A

56

64
Q

The location of the mutation within the APC gene has been associated with what?

A
  • severity of colonic polyposis
  • degree of cancer risk
  • age of cancer onset
  • survival
65
Q

Where are the locations of mutations in classic FAP?

A

middle of the gene

66
Q

Where are the locations of mutations in attenuated FAP?

A

ends of genes

67
Q

If genetic testing cannot be done in individuals with suspected FAP, what should pts do?

A

undergo yearly colonoscopies beginning at age 12

68
Q

What is commonly known as lynch syndrom?

A

hereditary nonpolyposis colorectal cancer

69
Q

Lynch syndrome develops how many polyps?

A

less than 100

70
Q

In lynch syndrome, the polyps are what?

A
  • larger and flatter
  • undergo rapid transformation to cancer
71
Q

Lynch syndrome usually occurs at what age compared to colorectal cancer that is not inherited?

A

45 vs 65

72
Q

Lynch syndrome progresses from a normal colonoscopy to cancer in how many years?

A

2-3 years

73
Q

What are these malignancies associated with:
- uterine cancer (endometrial)
- ovarian cancer
- gastric cancer
- small bowel cancer
- biliary tract cancer
- upper urinary tract cancer
- pancreatic cancer
- skin cancer
- brain cancer

A

Lynch syndrome

74
Q

What are the top associated malignancies with lynch syndrome?

A
  • colorectal
  • uterine
75
Q

In lynch syndrome, the most common site of extracolonic cancer is?

A

the uterus (endometrium)

76
Q

What is this associated with:
- at least 3 relatives with lynch syndrome associated cancer
- one should be a first-degree relative of the other two
- at least two successive generations should be affected
- at least one member diagnosed before age 50
- FAP should be excluded in colorectal cancer cases
- tumors should be verified by pathology

A

Amsterdam II criteria to identify carriers for lynch syndrome

77
Q

What is the inheritance pattern of lynch syndrome?

A

autosomal dominant

78
Q

What occurs with a defect in one of the mismatch repair genes: MLH1, MSH2, MSH6, and PMS2?

A

lynch syndrome

79
Q

MSH6 mutations have higher risks of what?

A

endometrial cancer

80
Q

At what age should you start colonoscopies if your have lynch syndrome?

A

age 25

81
Q

How should you screen for endometrial and ovarian cancer?

A
  • pelvic exam
  • blood test (CA125)
  • transvaginal ultrasound
  • endometrial biopsy at 25-35
82
Q

What is the name for a hamartomata’s polyposis syndrome?

A

Peutz-jehgers syndrome

83
Q

Peutz-jehgers syndrome mutation occurs on which chromosome?

A

19

84
Q

What is the inheritance pattern for Peutz-jehgers syndrome?

A

autosomal dominant

85
Q

What are these manifestations associated with:
- melanocytic macules on lips, perioral, and buccal regions

A

Peutz-jehgers syndrome

86
Q

Those with Peutz-jehgers syndrome have an increased risk of cancer of what?

A
  • GI tract: COLON, stomach and small bowel
  • breast cancer
  • pancreatic cancer

Clinical Science (18 decks)

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