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Gyn Onc > Hereditary cancer syndromes > Flashcards

Hereditary cancer syndromes Flashcards

1
Q

How many ovarian cancers are attributed to genetic mutations?

A

30%

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2
Q

What chromosomes are BRCA mutations on?

A

BRCA1- 17q21
BRCA2- 13q12-13

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3
Q

What kind of gene is BRCA?

A

tumor suppressor gene, 80% of patients have a frameshift mutation, which causes a defect in double stranded DNA repair and E3 ubiquitination

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4
Q

How is BRCA inherited?

A

Autosomal dominant

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5
Q

What is the lifetime risk of HGSTOC for BRCA?

A

BRCA1- 25-40%
BRCA2- 18-27%

Penetrance ranges from 41-90%

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6
Q

What is the risk of a BRCA mutation in the ashkenazi jewish population?

A

1/40, compared to general population risk of (BRCA1- 1/300, BRCA2 1/800)

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7
Q

When is BSO recommended for BRCA patients?

A

BRCA1- 35-40yo
BRCA2- 40-45yo or when childbearing is complete

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8
Q

How many patients have fallopian tube cancer found at time of RR-BSO?

A

2-17%

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9
Q

How much is the risk reduction with rr-BSO?

A

> 80%, but still risk of primary peritoneal cancer due to an unrecognized STIC (2-4.3%)

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10
Q

How much do OCPs reduce risk of HGSTOC for BRCA patients?

A

60% risk reduction if taken for at least 6 years

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11
Q

How much is breast cancer risk reduced with BSO in BRCA patients?

A

BRCA1- 56%
BRCA2-46%

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12
Q

What is SEE-FIM pathological protocol for RR-BSO

A

examined at 5 micrometer sections per 2mm thick tissue block; an occult STIC may measure 1mm or less

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13
Q

What is the lag time from diagnosis of STIC to invasive disease?

A

4 years

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14
Q

Which genes are considered high penentrance?

A

BRCA1, BRCA2, CDH1, PALB2, PTEN, TP53

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15
Q

EOC genetic testing criteria

A

-Personal hx of EOC at any age
-A FamHx of EOC: only needed if first or second degree relative had EOC at any age
-Family member with a probability of >5% of a BRCA1/2pv based on probability models

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16
Q

Breast cancer genetic testing criteria

A

-Personal hx of breast cancer:
-if dx before age 46
-if dx ages 46-50 and have unknown/limited famhx or multiple prior familial breast cancers with metachronous or synchronous cancers in more than one relative with breast, ovarian, pancreatic, or prostate ca at any age
-if dx at 51 or older and one or more relatives with any breast cancer </= 50yo or male breast cancer at any age
-Dx at any age: to guide PARP or herceptin use, if triple negative, lobular breast cancer w/ personal or family hx of gastric cancer, one or more blood relatives with male breast cancer, ovarian or pancreatic cancer at any age, 3 or more total dx of breast cancer in parent or close relative, two ore more close blood relatives with breast or prostate cancer at any age
-Ashkenazi Jewish

17
Q

Breast screening for BRCA patients

A

18yo- Breast awareness
25yo- clinical breast exam q6-12mo
25-29yo- annual MRI w/ contrast
30-75yo- annual MRI and mammogram
>75yo- individual

18
Q

Ovarian/uterine screening for BRCA patients

A

No exam, US, or CA125 has been proven useful
BRCA1- RRSO 35-40yo
BRCA2- RRSO 40-45yo

19
Q

Lynch syndrome genes

A

MLH1, MSH2, MSH6, PMS2 EPCAM

20
Q

How many patients have MLH1 silencing

A

20-30% have MLH1 silenced by non-inherited methylation of the MLH1 promoter

21
Q

Bethesda guidelines for lynch syndrome

A

-Diagnosed in patient under 50yo
-Presence of synchronous or metachronous, CRC or other lynch related tumor regardless of age
-CRC with IHC deficient MSI histology dx in a patient younger than 60yo
-CRC dx in a patient with one or more first degree relatives with a LS related cancer, with one of the cancers being dx before age 50
-CRC dx in a patient with 2 or more 1st or 2nd degree relatives with LS related cancers regardless of age

22
Q

Lynch screening- MLH1, MSH2, and EPCAM

A

-colonoscopy btwn 20-25yo, or 2-5y prior to the earliest dx
proband, every 1-2 years
-TLH/BSO in 40s
-Annual EMB 30-35yo
-EGD with duodenoscopy q2-3y starting at 30-35y
-UA w/ cytology at 25-30yo annually
-annual CNS exam starting 25-30yo

23
Q

Lynch screening- MSH6, PMS2

A

-colonoscopy 25-30yo or 2-5y prior to earliest proband colon cancer if dx before age 30, q 1-2y
-endometrial and ovarian cancer surveillance as other lynch mutations

24
Q

ATM gene- risk of cancer

A

EOC: <3%
insufficient evidence for RRSO
Breast: 15-40%

25
Q

BARD1 gene- risk of cancer

A

EOC: none
Breast: 15-40%

26
Q

PALB2 gene- risk of cancer

A

EOC: 3-5%
insufficient evidence for RRSO
Breast: 41-60%

27
Q

RAD51C gene- risk of cancer

A

EOC: >10%
consider RRSO between 45-50yo
Breast: 15-40%

28
Q

RAD51D gene- risk of cancer

A

EOC: >10%
consider RRSO between 45-50yo
Breast: 15-40%

29
Q

BRIP1 gene- risk of cancer

A

EOC: >10%
consider RRSO between 45-50yo
Breast: >10%

30
Q

TP53 gene- risk of cancer

A

EOC: none
Breast: >60%

31
Q

PTEN gene- risk of cancer

A

EOC: none
Breast: 40-60%

32
Q

STK11 gene- risk of cancer

A

non epithelial OC (sex cord): >10%
Breast: 40-60%

33
Q

CDH1 gene- risk of cancer

A

EOC: none
Breast: 41-60%
Gastric cancer association

34
Q

CDKN2A gene- risk of cancer

A

EOC: none
Breast: none
Melanoma: 28-76%

35
Q

CHEK2 gene- risk of cancer

A

EOC: none
Breast: 15-40%

36
Q

MLH1/MSH2 genes- risk of cancer

A

EOC: >10%
consider RRSO w/ hysterectomy
Uterine: 60%
Colon: 60%

37
Q

MSH6 gene- risk of cancer

A

EOC: <13%
Breast: <15%

38
Q

PMS2 gene- risk of cancer

A

EOC: <3%
Breast: <15%

Gyn Onc (5 decks)

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