1. Few more cases Cancer and cholesterol

2. Cancer and genetic testing Available guidance (NICE) Familial breast cancer /colonic/ovarian Familial Hypercholesteremia Communicating the risks Some common scenarios – group activity

3. 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?

4. 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 Ancestry Ask for any usual cancers

5. 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

6. 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

7. Combined pill General advice upto the age of 35y with FH. >35 y – risk increases BRCA1 mutations – OC pill protects against ovarian ca but potential increased risk of breast CA

9. 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

11. 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

12. 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

13. Familial Hypercholesterolemia 1 in 500 people have Familial Hypercholesterolemia 50% CVD risk by the age of 50 in men 30% CVD risk by the age of 60 in women 110,000 cases in the U.K. Only around 10,000 identified so far

14. When to think about it: Simon Broome Diagnostic Criteria TC >7.5, LDL >4.9 AND Definite FH: Tendon xanthomas in 1 st or 2 nd degree relative Possible FH: Family history of IHD <60 in 1st degree relative, and <50 in 2 nd degree relative Family history of TC >7.5 in 1 st or 2 nd degree relative

15. What about the Genetics? Autosomal Dominantly Inherited Mutation in LDL receptor gene Individuals should be referred for genotyping.

16. What about the rest of the family? ‘Cascade Screening’ of all 1 st and 2 nd 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

17. 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

18. Resources: NICE guidance www.learnonline.nhs.uk/pace www.geneticseducationnhs.uk OPERA online tool for patients via MacMillan website Bradford vts online resources eGP learning modules