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Block 1 WK 6 > Genetics of Cancer > Flashcards

Genetics of Cancer Flashcards

1
Q

(blank) is due to a mutation of a gene within a specific cell in the body.The damaged cell reproduces into multiple damaged cells which then accumulate into a (blank)

A

Cancer

tumor

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2
Q

All cancers are genetic but not all cancer is (blank)

A

hereditary

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3
Q

What percent of cancer is sporadic?
Familial?
Hereditary?

A

60%,
30%
7-10%

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4
Q

What type of cancer does this describe
(60%)
“By chance”
Environmental insults & aging damages the DNA within a given cell

A

sporadic cancer

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5
Q

What type of cancer does this describe
(30%)
Multifactorial
Several genes (not typically known) in combination with several environmental factors
These multiple factors will tend to be shared by family members thereby moderately increasing risk

A

Familial cancer

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6
Q

What type of cancer does this describe:
10%
Cancer that develops due to the person INHERITING a single gene that is mutated
The mutated gene is in every cell of the body & dramatically increase the risk to develop cancer over the lifetime
Genes have roles in certain parts of the body & therefore a mistake will increase the risk of not just any cancer but cancer in the corresponding area
Because the predisposition is inherited, environment & age play less of a role & cancer typically develops earlier than usual

A

hereditary cancer

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7
Q

When should you suspect a hereditary cancer?

A

cancer in 2 or more relatives on same side of fam,
early age diagnosis
multiple primary tumors
bilateral or multiple rare cancers
constellation of tumors consisted with specific cancer syndrome (i.e. breast and ovary)
Evidence of autosomal dominant transmission

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8
Q

What are three types of hereditary breast cancer syndrome?

A

Hereditary Breast & Ovarian Cancer Syndrome (HBOC)
Cowden Syndrome—PTEN gene
Li Fraumeni—p53 gene

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9
Q

What are the characteristics of Hereditary Breast & Ovarian Cancer Syndrome (HBOC)?

A

Breast <50

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10
Q

What are the characteristics of Cowden Syndrome (PTEN gene)

A

Both malignant and benign tumors of the breasts, uterus, thyroid, and skin

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11
Q

What are the characteristics of

Li Fraumeni—p53 gene?

A

Young breast cancer (20s), childhood adrenocortical tumors, sarcomas, leukemia, etc

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12
Q 
Breast cancer before age 50
Ovarian cancer at any age
Male Breast Caner
Bilateral Breast Cancer
Ashkenazi ancestry
IS THIS SIGN OF HEREDITARY OR SPORADIC BREAST CANCER?
A

hereditary

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13
Q

None of the breast cancer is diagnosed before age 50
No ovarian cancer
No clear pattern on one side of family or other
IS THIS SIGN OF HEREDITARY OR SPORADIC BREAST CANCER?

A

sporadic

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14
Q

BRCA1 and BRCA2 are how common in hereditary breast and ovarian cancer syndrom?

A

52% and 32%

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15
Q

(blank) Mutations Increase the Risk of Early-Onset Breast Cancer

A

BRCA1/2

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16
Q

What are the population risk and hereditary risks of Breast Cancer?
By age 40
age 50
lifetime

A

.5% pop 10-20% hereditary
2% pop 33%-50% hereditary
12% pop 56%-87% hereditary

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17
Q

Women with mutations in BRCA1 and BRCA2 have a greatly elevated risk of (blank) as well as breast cancer

A

ovarian cancer

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18
Q

The risk of ovarian cancer due to inherited BRCA1 mutations is (blank) by age 70, compared to the general population risk of 1%.

A

28% to 44%

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19
Q

Mutations in BRCA2 confer an increased risk of ovarian cancer of approximately (blank) by age 70, which represents a 15-fold increase compared to the general population.

A

27%

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20
Q

Is the location of mutation of BRCA1 or BRCA2 genes linked to likelihood of developing ovarian cancer?

A

no relationship has been confirmed

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21
Q

BRCA1/2 Mutations Increase the Risk of a Second Primary Breast Cancer:
Pop risk vs hereditary risk in first 5 years of dx?
pop risk vs hereditary risk in lifetime?

A

5% pop 12%-20% hereditary risk

11% pop 40%-62% hereditary risk

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22
Q

The presence of BRCA also causes a risk in other cancer other than female breast cancer and ovarian cancer, What are these other cancers?

A

Male breast cancer, Prostate cancer, melanoma, pancreatic cancer

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23
Q

What is the gen pop risk of male breast cancer and what is the risk with BRCA mutation?

A

less than 1% pop, 7% BRCA

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24
Q

What is the gen pop risk of prostate cancer and what is the risk with BRCA mutation?

A

15% pop, 20% BRCA

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25
Q

What is the gen pop risk of melanoma and what is the risk with BRCA mutation?

A

1% pop, 2-4% BRCA

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26
Q

What is the gen pop risk of pancreatic and what is the risk with BRCA mutation?

A

1% pop, 2-4% BRCA

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27
Q

The majority of hereditary cancer syndromes are inherited in an (blank) pattern

A

AD

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28
Q

If father is carrier and mother is normal, what is the chance of child inheriting mutation?

A

50%

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29
Q

What are the NCCN guidelines for Medical Management for Breast Cancer screening for early detection?

A

age 18 begin monthly self exams

age 25 begin clinical exams and MRI mammograms yearly

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30
Q

What are the NCCN guidelines for Medical Management for Ovarian cancer screening for early detection?

A

age 25-35 pelvic exams, transvaginal ultrasound, CA-125 annually

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31
Q

Is a complete colectomy complete?

A

no, some is still left at rectum

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32
Q

What is the chemoprevention for breast cancer and is there a specific age that you should begin? How much does it reduce your risk of cancer?

A

tamoxifen, no variable age, reduces 50%

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33
Q

What is the chemoprevention for ovarian cancer, is there a specific age you should begin, how much does it reduce your risk of cancer?

A

oral contraceptives
no, variable age
Reduces risk by 60%

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34
Q

What are the NCCN Guidelines for Medical Management Breast & Ovarian Cancer Surgical Prevention?

A

Breast cancer -for any age a bilateral masectomy (reduces 90%)
Breast cancer- age 35-40 bilateral salpino oophorectomy (reduces 50%)
Ovarian cancer- 35-40 bilateral salpino oophorectomy (reduces by 96%)

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35
Q

50% of individuals with HBOC do not have a strong (blank) of cancer

A

family history

36
Q

When should you refer an individual for genetic counseling for hereditary breast cancer?

A

Anyone with a personal and/or family history on EITHER side of the family of:
Breast Cancer:
Diagnosed < age 50
In 2 or more close relatives
Bilateral breast cancer or multiple primary breast cancer diagnoses
Male breast cancer
Triple Negative Disease (ER “-”, PR “-”, Her-2 “-”)
Breast and Ovarian Cancer:
Both cancers in the same woman
One of each cancer diagnosed in two close relatives
Ovarian Cancer:
In 2 or more close relatives

37
Q

What ethnicity should be looked at iif a family member had ovarian cancer at any age or breast cancer before 60?

A

Ashkenazi Jewish

38
Q

Anyone with a personal and/or family history suggestive of rare genetic syndromes associated with increased breast cancer risk such as
Breast, thyroid, uterine, sarcomas, brain tumors, and childhood tumors/leukemias
SHould be what?

A

referred to genetic counseling for hereditary breast cancer

39
Q

What percent of colorectal cancer is sporadic?
familial?
Hereditary?

A

73%
20%
5.8%

40
Q

What are types of polyposis?

A

Familial Adenomatous polyposis (FAP)
Peutz Jeghers Syndrom
MYH associated polyposis (MAP)

41
Q

Familial Adenoatous Polyposis (FAP) is associated with what?

A

Turcot & Gardner syndrome

Attenuated Familial Adenomatous Polyposis (AFAP)

42
Q

Peutz Jeghers syndrom is associated with what?

A

Colon, breast, ovarian, pancreatic, sex cord tumors, gastric, mucocutaneous pigmentation

43
Q

MYH Associated Polyposis (MAP) is associated with what?

A

AR polyposis (~55 polyps); increased risk of colon ca; age of onset 48-56

44
Q

What is Familial Adenomatous Polyposis (FAP) caused by? What is your risk of developing adenomas and colon cancer? Do you have other risks?

A

Mutation in APC gene, 100%,100%, risks for extracolonic tumors

45
Q

What is CHRPE?

A

congenital hypertrophy of the retinal pigment epithelium

46
Q

What varients of Familial Adenomatous Polyposis (FAP) ?

A

Turcot syndrome
Gardner Syndrome
Attenuated Familial Adenomatous polyposis (AFAP)

47
Q

What syndrome creates polyposis & CNS tumors (medulloblastoma)

A

Turcot Syndrome

48
Q

What syndrom causes polyposis, osteomas, and soft tissue tumors?

A

gardner syndrome

49
Q

What causes 10-100 colonic polyps, have proximally located polyps, has a colorectal cancer risk of 80%-100%, leads to later development of colon cancer compared to FAP, is autosomal dominant but 20-30% of patients will be 1st affected individual in family.

A

Attenuated Familial Adenomatous Polyposis (AFAP)

50
Q

Does FAP or AFAP have more polyps?

A

FAP

51
Q

how is screening for APC mutation carriers done?

A

sigmoidoscopy at 10-12 yrs (annually)
Clonoscopy (once polyps are detected) annually until colectomy
Upper endoscopy or esophagogastroduodenscopy (EGD) at age of detection (every 1-3yrs)
Post colectomy endoscopy of remaining rectum or pouch (6mo to 3y dependin on # of polyps on previous exams)
Physical exam and ultrasound for thryoid risk at 10-12 yrs (annually)

52
Q

How do you manage APC Carriers?

A

Polypectomy, Preventive removal of the colon and rectum, chemoprevetion

53
Q

What are some helpful chemoprevention for APC carriers?

A

NSAIDs (i.e ibuprofen)

54
Q

Molecular genetic testing for polyposs is important becaues it allows for what?

A

diagnosis for at risk individuals, reduces screening costs, save childrens from undergoing unneccessary colonscopies

55
Q

What does genetic testing confirm?

A

diagnosis of FAP or AFAP

56
Q

Who should be referred for counseling and testing of APC gene?

A

Anythign with more than 10-20adenomas, at risk individuals based on fam history

57
Q

In the testing of APC gene, who should be tested first?

When does cancer screening start?

A

affected individuals

in childhood

58
Q

What is another name for hereditary NOn-polyposis colorectal cancer (HNPCC)?

A

lynch syndrome

59
Q

What is lynch syndrome linked to and how is it inherited?

A

endometrial, ovary, pancreas, stomach, ureter & renal pelvis, small bowel, biliary tract, sebaceous skin tumors, & brain cancers
Autosomal dominant

60
Q

90% of colon cancers are (blank)

A

right sided

61
Q

Is HNPCC or lynch syndrome polyposis?

A

no it is nonpolyposis

62
Q

Why is lynch syndrome caused by?

A

mismatch repair genes: MLH1, MSH2, MSH6, & PMS2

63
Q

Lynch syndrome tumors are microsatellite instable (MSI-H) whereas only 15% of sporadic tumors are due to (Blank)

A

accumulation of mutations due to mutations in mismatch repair genes

64
Q

Having the HNPCC gene increases your risk greatly of (blank), what other cancers does it increase the risk of?

A

Colon and endometrium

Stomach, ovary, hepatobillary tract, urniary tract, small bowl, brain/central nervous sytem

65
Q

What is the mean age of onset for Colon and endometrium

Stomach, ovary, hepatobillary tract, urniary tract, small bowl, brain/central nervous sytem

A

44-61 years

66
Q

Lynch syndrome increases risk of a (blank)

A

second cancer

67
Q

Colorectal cancer patients with (blank) are at high risk of developing a second primary cancer, especially of the colon, rectum, or endometrium.
The risk of another associated cancer was estimated to be up to 30% within 10 years of the first cancer diagnosis and up to 50% within 15 years of the first cancer diagnosis.

A

Lynch syndrome

68
Q

Therefore, surgical considerations for patients with Lynch syndrome who develop colorectal cancer must be based not only on treating the first primary cancer, but also the (blank) of a second primary cancer.

A

prevention

69
Q

Women with (blank) who initially develop endometrial cancer are at greatly increased risk of subsequent colorectal cancer.

A

Lynch syndrome

70
Q

Lynch Syndrome Management Colorectal Cancer Surveillance involves what?

A

colonoscopy starting between ages 20-25 every 1-2 years and annually after 40

71
Q

What reduces CRC risk by over 50% and overall mortality by 65%

A

annual colonoscopies for Lynch syndrome colorecectal cancer

72
Q

If you have sporadic CRC (lynch syndrome) how often do you need to get a colonoscopy?

A

every 5 years

73
Q

For women with lynch syndrome, what might be considered to reduce the likelihood of gynecologic cancer?
What are methods of surveillance for it?

A 
Prophylactic hysterectomy (remove ovaries and uterus), 
surveillance: endometrial aspiration, transvaginal ultrasound, CA-125 (bein at 25-35 every 1-2 years)
74
Q

The majority of hereditary cancer syndromes are inherited in an (blank) pattern

A

AD

75
Q

Is multigene testing in cancer successful?

A

not really, too much info hard to get through it all

76
Q

(blank) percent of stage 1 breast cancers recur and will benefit only a minority, therefore signature gene tests should be done to tell you what?

A

15%

Whether or not chemo will be effective

77
Q

Most medical societies require what before genetic testing? Why?

A

genetic counseling
only 10% of cancer is hereditary so unnecessary for testing in some cases, provide key info about pnts medical management, test affected person first to save time and money

78
Q

In genetic testing who should you test first and why?

A

test affected person first to save time and money

79
Q

Tell me about genetic testing and insurance?

A

genetic testing can be expensive but insurance typically covers. BRAC1 & 2 testing coveried ~90%,

80
Q

Is genetic discrimination a theoretical or tangible concern?

A

theoretical, laws are there to protect against this, concern not relevant for individuals who have already have cancer.

81
Q

Hereditary cancer isn’t as (blank) as you may think. For every 10 patients you see with cancer (especially breast, ovarian, colon, uterine, thyroid, etc): you will have (blank)

A

1 with hereditary cancer syndrome

82
Q

An individual with HBOC will have what percent risk for a 2nd breast cancer?
For ovarian cancer?

A

40-60%

20%

83
Q

An individual with HNPCC/Lynch will be at what percent risk for a 2nd colon cancer or another HNPCC cancer?

A

50%

84
Q

What is the typical inheritance of a cancer causing mutation?
If someone in the family is affected, who should be tested?

A

Autosomal dominant inheritance

Everyone in the family is at risk

85
Q

30% of people with cancer will have an increased risk of developing another due to (blank)

A

familial cancer

86
Q

When considering giving genetic counseling what should you do?

A

Dont always focus on family history, do not let fear of genetic discrimination or cost of testing be a barrier to referral, use preventative steps

Block 1 WK 6 (10 decks)

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