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Genomics > Bowel cancer > Flashcards

Bowel cancer Flashcards

1
Q

Who is offered bowel screening

A

> 55 years
One off scope screening test at 55
60-74 FIT tests 2 yearly
75 can request a kit

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2
Q

What provide for moderate risk families bowel cancer

A

Clinic appointment
Surveillance either one off at 55 or 5 yearly
NHS bowel screening

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3
Q

High risk families bowel cancer provided with

A

Appointmet genetic clinic
Genetic testing
Chemoprevention advice - aspirin

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4
Q

What prevention is considered in lynch syndrome

A

Colonosopies 2 yearly from age 25
Women hysterectomy and oophorectomy offered to women at risk of gynaecology cancers once have families

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5
Q

FAP prevention considered

A

Annual bowel checks from 10-13 years old
Sigmoidoscopy examine lower part of bowel
Colonoscopies examine more of bowel

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6
Q

What is lynch syndrome

A

Hereditary non polyposis colorectal cancer

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7
Q

What causes lynch syndrome

A

MMR genes - MLH1, MSH2, MSH6 and PMS2

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8
Q

What are MLH1 and MSH2 carriers offered screening ways

A

Rectal screening - colonoscopy every 2 years from 25-75 years
H pylori one off screening
NHS cervical screening
Hysterectomy + BSO after 35/childbearing

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9
Q

Epidemiology of increased cancer risk in lynch syndrome gene carriers

A

80% increased risk colorectal cancer in men
70% colorectal in women, 60% endometrial cancer

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10
Q

MSH6/PMS2 carriers screening

A

35-75 yeras colorectal screening annually
Hysterectomy alone after 45 years for PMS2

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11
Q

What are the amsterdam criteria used for

A

Diangostic criteria fro lynch sundrome

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12
Q

What is the criteria in amsterdam criteria

A

CRC <50 yeras
CRC <60 years + abnormality on IHC already detected
CRC at any age and one other lynch tumour at any age
CRC <60 and one 1st degree relative with lynch tumour <60
CRC <75 + >2 1st/2nd degree relatives w lynch tumours <75 - two cases must be FDR

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13
Q

What falls under lynch tumours

A

Colorectal cancer
Endometrail
Ovarian
Small bowel
Ureter
Gastric
Pancreatic
Hepatobiliary tract
Glioblastoma
Benign skin tumours/cacners

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14
Q

How is lynch syndrome testing done

A

MSI - microsatellite instability
IHC - immunohistochemical test
BRAF test
On tujmour tissue sample or a sample of family members in whom lynch syndrome most likely

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15
Q

Results of lynch syndrome testing

A

MSI high - dysfunctional MMR - needs further testing
Abnormal IHC - absence of MMR proteins and need for further genetic testing
+BRAF mutation = sporadic origin

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16
Q

What results mean can progress to further testing tfor lynch syndrome

A

MSI high, abnormal IHC and negative BRAF OR
Amsterdam +-> germline MMR testing

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17
Q

Who is offered predictive testing for inhertied cancer

A

Pathogenic variant identified in famuily

18
Q

When is testing in children for cancer genes considered

A

TP53/FAP - earlier surveillance possible

19
Q

When start surveilling indiviudals with mutation increasing cancer risk

A

25-30

20
Q

What protects genetic testing for cancer insurance wise

A

Code on genetic testing and insurance
Not require or pressure into predictive or genetic tetsing
Dont ask for aor take into account resut of predictive genetic test if applying for insrance
Stop discrimination

21
Q

What is the exception for insurance and predictive testing

A

Positive predictive Huntingtons disease and life insrance >500,000

22
Q

Breast cancer risk factors

A

AMILY HISTORY
smoking
Obesity
Alcohol
Lack of exercise
Nulliparity or first pregnancy >30
Early menarche <12 and/or late menopause
Current or prev HRT use
Prev radiotherapy
Prev breast cancer

Prolonged breast feeding is protective

23
Q

Types of risk stratification for breast cancer

A

By phenotype - eg age, number of relatives, breast and ovarian cancer
Genotype - herditary, family cluster, sporadic disease

24
Q

What is herditary breast cancer

A

Single gene, high penetrance
BRCA1, BRCA2, TP53, PTEN, STK11, PALB2

25
Q

What is a family cluster of breast cancer

A

Relatively common >1 gene
Low penetrance
Polygenic risk scores

26
Q

Current options for genetic testing in breast cancer

A

Single mutation predicitve test - if known mutation in family
Standard panel test - BRCA1/BRCA2/PALB2 if FH breast/ovarian cancer meeting testing criteria 10% chance of finding a mutation

27
Q

What % of colorectal tumours are caused by lynch syndrome

A

1 in 30
Over 1,100 colorectal cancers in UK per year

28
Q

What causes lynch syndrome

A

LH1, MSH2, MSH6, PMS2 mutation - mismatch repair genes

29
Q

What are core lynch cancers and other cancers it causes

A

Bowel
Endometrial

Other GI, gynaecological, CNS tumours, uroloigcal tumours

30
Q

What is 3,2,1 in lynch syndrome

A

Amsterdam criteria - 3 lynch tunours, 2 successive generations, 1 diangosis <50

31
Q

What should be done in all colorectal cancers NICE recommend

A

Lynch syndrome testing

32
Q

How test for lynch syndrome

A

Immunohistochemistry, Microsatellite instability
If abnormal -> look for sporaduc non lynch cause of tumour - IF NON then evidence of lynch in blood DNA

33
Q

Further testing for lynch syndrome

A

BRAF V600E + MLH1 promotor hypermethylation = common lynch misnomers - non lynch cause- if positive not lynch sydnroem

Germline gene testing
Mlh1, msh2,msh6, pms2

34
Q

What is classical/attenutated FAP

A

Classical - highly penetrant - 1000s adenomas 100% malignancy risk
Attenuated - nont so highly penetrant - 10-100 adenomas, colonoscopy every 1 -2 years

35
Q

Extracolonic FAP features

A

Gastric fundus polyps, duodenal polyposis, CHRPE (retinal hyperpigemnt), desmoid tumours, osteomas ,

36
Q

What causes FAP

A

Inherited APC tumour supressor gene mutations

37
Q

Rare single gene bowel cnacer conditions

A

MUTYH - recessive in aFAP - lifelong colonoscopy follow
DOMINANT
Peutz-Jeghers syndrome - STK11 (perioral hyperpigmentation, GI polyposis, other malignancy risk)
Juvenile polyposis - SMAD4 gene - GI polypisis, HHT

38
Q

How treat FAP

A

Prophylactic colectomy offered form 20 years onwards

39
Q

Lynch management bowel cancer

A

2 yearly colonsocopy 25-75 years

40
Q

Gastric cancer risk lynch syndrome management

A

H.pylori testing, eradication
egular endoscopy screening not routinely offered

41
Q

Fynaecological test lynch syndrome

A

Screening not effective
Risl reduconig
TAH/BSO once chilbearing complete

42
Q

What medication can be used in lynch syndrme

A

Regular aspirin for at least 2 years esp colorectal cancers

Genomics (11 decks)

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