Bowel cancer Flashcards
Who is offered bowel screening
> 55 years
One off scope screening test at 55
60-74 FIT tests 2 yearly
75 can request a kit
What provide for moderate risk families bowel cancer
Clinic appointment
Surveillance either one off at 55 or 5 yearly
NHS bowel screening
High risk families bowel cancer provided with
Appointmet genetic clinic
Genetic testing
Chemoprevention advice - aspirin
What prevention is considered in lynch syndrome
Colonosopies 2 yearly from age 25
Women hysterectomy and oophorectomy offered to women at risk of gynaecology cancers once have families
FAP prevention considered
Annual bowel checks from 10-13 years old
Sigmoidoscopy examine lower part of bowel
Colonoscopies examine more of bowel
What is lynch syndrome
Hereditary non polyposis colorectal cancer
What causes lynch syndrome
MMR genes - MLH1, MSH2, MSH6 and PMS2
What are MLH1 and MSH2 carriers offered screening ways
Rectal screening - colonoscopy every 2 years from 25-75 years
H pylori one off screening
NHS cervical screening
Hysterectomy + BSO after 35/childbearing
Epidemiology of increased cancer risk in lynch syndrome gene carriers
80% increased risk colorectal cancer in men
70% colorectal in women, 60% endometrial cancer
MSH6/PMS2 carriers screening
35-75 yeras colorectal screening annually
Hysterectomy alone after 45 years for PMS2
What are the amsterdam criteria used for
Diangostic criteria fro lynch sundrome
What is the criteria in amsterdam criteria
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
What falls under lynch tumours
Colorectal cancer
Endometrail
Ovarian
Small bowel
Ureter
Gastric
Pancreatic
Hepatobiliary tract
Glioblastoma
Benign skin tumours/cacners
How is lynch syndrome testing done
MSI - microsatellite instability
IHC - immunohistochemical test
BRAF test
On tujmour tissue sample or a sample of family members in whom lynch syndrome most likely
Results of lynch syndrome testing
MSI high - dysfunctional MMR - needs further testing
Abnormal IHC - absence of MMR proteins and need for further genetic testing
+BRAF mutation = sporadic origin
What results mean can progress to further testing tfor lynch syndrome
MSI high, abnormal IHC and negative BRAF OR
Amsterdam +-> germline MMR testing
Who is offered predictive testing for inhertied cancer
Pathogenic variant identified in famuily
When is testing in children for cancer genes considered
TP53/FAP - earlier surveillance possible
When start surveilling indiviudals with mutation increasing cancer risk
25-30
What protects genetic testing for cancer insurance wise
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
What is the exception for insurance and predictive testing
Positive predictive Huntingtons disease and life insrance >500,000
Breast cancer risk factors
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
Types of risk stratification for breast cancer
By phenotype - eg age, number of relatives, breast and ovarian cancer
Genotype - herditary, family cluster, sporadic disease
What is herditary breast cancer
Single gene, high penetrance
BRCA1, BRCA2, TP53, PTEN, STK11, PALB2
