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Oncology AB > Cancer Genetics AB > Flashcards

Cancer Genetics AB Flashcards

1
Q

Gastric cancer - what are the genetic associations?

A

BRCA2
HNPCC
Peutz-Jegher
Familial Diffuse Gastric Cancer (CHD1 or e-cadherin gene)

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2
Q

Familial Diffuse Gastric Cancer - who does it affect and what is the incidence of cancer?

A

Maoris in NZ
Newr 100% incidence of gastric cancer
Also lobular breast cancer
Remove stomachs when they get to adulthood

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3
Q

Gastric cancer - what are the molecular subtypes?

A

CIN
EBV associated
MSI
GS - gastric subtype; correlates with diffuse gastric cancer

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4
Q

Familial adenomatous polyposis - what is the underlying genetic abnormality?

A

Autosomal dominant

Mutation in APC gene

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5
Q

Lynch syndrome - what are the underlying genetic mutations?

A

Autosomal dominant
Germline mutation leading to mismatch repair

Mutations in MLH1, MSH2, MLH3, PSM - can be identified on ICH of the tumour tissue

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6
Q

Lynch syndrome - which cancers are associated with this syndrome?

A 
Colon
Endometrial
Ovarian
Stomach 
Hepatobiliary
Urinary tract
Brain
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7
Q

What is the recommended screening/management of FAP?

A

Total colectomy with ileorectal anastomosis
Sigmoidoscopy from age 12-15
Duodenal screening fro age 25 or at time of colectomy

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8
Q

What is the recommended screening for HNPCC?

A

Colonoscopy 1-2 yearly from age 25 or 5 years younger than familial case

? Screen for extracolonic tumours

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9
Q

Breast cancer - what are the genetic associations?

A

5-10% of breast cancers are gene related

BRCA 1/2
PTEN
p53
ATM
MLH1
MSH2
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10
Q

What is the mutation in Li-Fraumeni syndrome?

A

p53 - Ch 17

Autosomal dominant

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11
Q

What is the mutation in Cowden syndrome?

A

PTEN - Ch 10

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12
Q

What cancers are seen in Cowden syndrome?

A 
Breast - 25-50%
Ovarian - 1%
Thyroid
Endometrial
Genitourinary
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13
Q

What cancers are seen in Li-Fraumeni syndrome?

A 
Breast - >90%
Soft tissue sarcoma
Brain tumours
Adrenocortical cancer
Leukaemia
Colon
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14
Q

What is the genetic mutation in Peutz-Jeghers syndrome?

A

STK11/LKB1

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15
Q

What cancers are seen in Peutz-Jeghers?

A 
Breast cancer - 50%
Sex cord tumours
Small intestine
Colorectal Urterine
Testicular
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16
Q

What is the mutation seen in hereditary diffuse gastric cancer?

A

CDH1

17
Q

What are the mutations seen in HNPCC/Lynch syndrome?

A 
MLH1
MSH2
MSH6
PMS1
PMS2
18
Q

Does BRCA1 or BRCA2 confer a higher risk for developing prostate cancer?

A

BRCA2 (RR 4+)

19
Q

What are the histologic features of BRCA1 breast cancer?

A 
High grade
Hormone receptor negative 75%
Pushing borders 
Less DCIS
Medullary histology
Stains positive for basal keratin
20
Q

Which chromosomes are BRCA1 and BRCA2 located on?

A 
BRCA1 = Ch 17q
BRCA2 = Ch 13q
21
Q

When do you perform genetic testing in breast and ovarian cancer where there is NO family history?

A

Breast cancer

22
Q

Which familial cancer is PLAB2 similar to?

A

BRCA2

23
Q

How effective is chemoprevention (e.g. Tamoxifen) at primary prevention of breast cancer?

A

Reduces risk of hormone positive breast cancer by 30-40%

Not associated with proven survival benefit

Younger high risk women benefit most

24
Q

What is the penetrance of Li Fraumeni syndrome by age 60?

A

90%

25
Q

What is Gardner syndrome?

A

FAP + extra-intestinal features (osteomas, desmoid tumours, epidermoid cysts)

26
Q

What is Turcot syndrome?

A

Familial colon cancer + primary brain tumour

Medulloblastoma in FAP
GBM in Lynch

27
Q

What does MYH polyposis resemble?

A

Attenuated FAP

28
Q

What is the mode of inheritance of MYH polyposis?

A

Autosomal recessive

29
Q

What are the common genetic abnormalities in serrated polyps?

A

Widespread DNA methylation and frequent BRAF +

30
Q

What is the genetic abnormality associated with familial paraganglioma syndrome?

A

Autosomal dominant, variable penetrance

Mainly SDHB, SDHD

Testing: screen with IHC looking for absent SDH protein

31
Q

What are the genetic associations with phaeochromocytoma?

A 
vHL
MEN2
SDH mutations
MH1
RET
NF1
32
Q

What are the findings in Birt-Hogg-Dube syndrome?

A

Bilateral multifocal kidney cancer (usually chromophobe)

Skin signs (fibrofolliculoma)

33
Q

What is the mode of inheritance of von Hippel Lindau?

A

Autosomal dominant

Germline mutation of VHL gene - Ch 3p

34
Q

What are the typical abnormalities in von Hippel Lindau syndrome?

A

Cerebellar or spinal haemangioblastomas
Retinal angiomas
Clear cell renal cancer
Phaeochromocytoma

35
Q

What tumours occur in NF1?

A

10% get cancer

Optic nerve gliomas and other astrocytomas
Childhood leukaemias
Phaeochromocytoma
Other sarcomas (GIST)

36
Q

What are the risks associated with P16 mutations?

A

High risk of melanoma

Some increased risk of pancreatic cancer

37
Q

What on earth is BAP?

A

BAP = BRCA1 associated protein

Associated: melanomas, mesothelioma, lung adenocarcinoma, meningioma

38
Q

What are POLD1 and POLE mutations associated with?

A

Polyposis, CRC
POLD1 also endometrial cancer

Lynch syndrome-like families without mutation

Oncology AB (5 decks)

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