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PASG 60100 Genetics > Breast and Ovarian Cancer (Ch. 7) > Flashcards

Breast and Ovarian Cancer (Ch. 7) Flashcards

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1
Q

What are the genes involved in breast cancer?

A

BRCA1
BRCA2
P53
SKT11
ERBB2
PTEN

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2
Q

What chromosomes are BRCA1 and BRCA2 found on respectively?

A

BRCA1 - chr17
BRCA2 - chr13

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3
Q

What are the genes involved in ovarian cancer?

A

BRCA1
BRCA2
P53
MLH1
MSH2
MSH6
ERBB2

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4
Q

What is the inheritance pattern observed with breast cancer?

A

autosomal dominant

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5
Q

What diagnostic tools are used to determine breast cancer?

A
  • immunohistochemical stains (IHC)
  • FISH
  • annual breast exams
  • breast imaging or ultrasound
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6
Q

What kind of genes are BRCA1 and BRCA2?

A

tumor suppressor genes

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7
Q

What is the “2-hit” hypothesis?

A

must have 2 mutations to develop cancer - a mutation in the oncogene and one in the tumor-suppressor gene

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8
Q

Which gene has a higher risk of male breast cancer?

A

BRCA2

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9
Q

Which gene has a higher risk of ovarian cancer?

A

BRCA2

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10
Q

Why is ovarian cancer difficult to diagnose?

A

symptoms can be confused with menstrual symptoms and positionality

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11
Q

What are the screening techniques used to help determine breast cancer?

A

Mammograms
Ultrasound
MRI (best paired with mammograms)
Self breast exams

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12
Q

What are the screening techniques used to help determine ovarian cancer?

A

Transvaginal ultrasound
Serum CA-125 level analysis
Bilateral salpingo-oophorectomy

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13
Q

Which genes are associated with founder effect?

A

BRCA1 and BRCA2

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14
Q

What syndrome is due to a p53 mutation on chromosome 17?

A

Li-Fraumeni syndrome

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15
Q

What is Li-Fraumeni syndrome characterized by?

A

premenopausal breast cancer

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16
Q

What syndrome is due to a PTEN mutation on chromosome 10?

A

PTEN hamartoma tumor syndrome (PHTS) + Cowden’s syndrome

17
Q

What is Cowden’s syndrome characterized by?

A

hamartomas and malignancies ie breast, thyroid, colorectal, kidney and endometrial cancers

18
Q

What syndrome is due to a STK11 mutation on chromosome 19?

A

melanocytic macules on lips, perioral/buccal regions, GI polyps

19
Q

What are the guidlines for intensive breast cancer screening?

A

MRI after 25 y/o annually
Mammogram at 30 y/o

PASG 60100 Genetics (16 decks)

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