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Few more cases
Cancer and cholesterol
Cancer and genetic testing
Available guidance (NICE) Familial breast cancer /colonic/ovarian Familial Hypercholesteremia
Communicating the risks Some common scenarios – group
activity
Familial Breast cancer
30 year old lady who has felt lumpy painful breast
History and examination – nil significant except her concerns are regarding family history of breast cancer.
Maternal aunt diagnosed at the age of 52, was operated and had chemo
She knows this can be genetically linked? What would you advice her?
NICE – key points
Establish the family history – see info regarding taking history.
If there is a gene mutation known – needs direct referral.
Any paternal history of breast cancer?Jewish AncestryAsk for any usual cancers
Important messages to share..
Most women who develop breast ca will not have a known family history.
For most women increasing age is the greatest risk factor
Great majority with family history do not fall into high risk category
Main risk factors are modifiable – smoking, alchohol, HRT, weight & exercise
Risks:
Lifetime risk in general population for women is 10%.
HRT over 5 years - 2/1000(oestrogen)
- 6/1000(combined)
Compared to 10/1000 not on HRT(50-59y) Short term use only for woman with FH Oestrogen only HRT HRT should be confined to woman < 50 if at
raised or increased risk
Combined pill
General advice upto the age of 35y with FH.
>35 y – risk increasesBRCA1 mutations – OC pill protects
against ovarian ca but potential increased risk of breast CA
Colonic Ca
35 year old man, infrequent attendee comes with painful PR bleed.
What would be his main concerns? How would reassure and explain? Guidance regarding screening – establishing family
history
Ovarian cancer
No specific guidance by NICE.Could be BRCA linked – genetic testing
can be offered depending on family history
Recent NICE guidelines – Ca 125 as a screening tool.
United Kingdom Collaborative Trial of Ovarian Cancer Screening (UKCTOCS)- annual ultrasound and Ca 125
Familial hypercholesterolemia
A 34-year-old man whom you are seeing for sore throat says sister died very suddenly 2 weeks ago at the age of 42.
She also happens to be your patient, and when you look in her notes, the cause of death from PM is Myocardial Infarction
Familial Hypercholesterolemia
1 in 500 people have Familial Hypercholesterolemia
50% CVD risk by the age of 50 in men30% CVD risk by the age of 60 in
women110,000 cases in the U.K.Only around 10,000 identified so far
When to think about it: Simon Broome Diagnostic Criteria
TC >7.5, LDL >4.9 ANDDefinite FH:
Tendon xanthomas in 1st or 2nd degree relative
Possible FH:Family history of IHD <60 in 1st degree
relative, and <50 in 2nd degree relativeFamily history of TC >7.5 in 1st or 2nd degree
relative
What about the Genetics?
Autosomal Dominantly InheritedMutation in LDL receptor geneIndividuals should be referred for
genotyping.
What about the rest of the family?
‘Cascade Screening’ of all 1st and 2nd degree relatives – several pilot projects underway to figure out how to do this.
Controversies:How do you assess for possible IHD?Children should be started on a statin as early
as possible, around the age of 10
Key points to remember!
Our role is identify patients at risk or who may have a genetic condition and would benefit from input from Genetic Services
We do this by taking and using a family history – core examples: A common multifactorial disease (e.g. IHD or cancer)
occurring young, strong family history, atypical presentation Early pregnancy, or even pre-conceptually
There is lots of information out there regarding individual conditions
Resources:
NICE guidancewww.learnonline.nhs.uk/pacewww.geneticseducationnhs.ukOPERA online tool for patients via
MacMillan websiteBradford vts online resourceseGP learning modules