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Few more cases Cancer and cholesterol. Cancer and genetic testing Available guidance (NICE) Familial...

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Few more cases Cancer and cholesterol
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Page 1: Few more cases Cancer and cholesterol. Cancer and genetic testing Available guidance (NICE) Familial breast cancer /colonic/ovarian Familial Hypercholesteremia.

Few more cases

Cancer and cholesterol

Page 2: Few more cases Cancer and cholesterol. Cancer and genetic testing Available guidance (NICE) Familial breast cancer /colonic/ovarian Familial Hypercholesteremia.

Cancer and genetic testing

Available guidance (NICE) Familial breast cancer /colonic/ovarian Familial Hypercholesteremia

Communicating the risks Some common scenarios – group

activity

Page 3: Few more cases Cancer and cholesterol. Cancer and genetic testing Available guidance (NICE) Familial breast cancer /colonic/ovarian Familial Hypercholesteremia.

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?

Page 4: Few more cases Cancer and cholesterol. Cancer and genetic testing Available guidance (NICE) Familial breast cancer /colonic/ovarian Familial Hypercholesteremia.

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

Page 5: Few more cases Cancer and cholesterol. Cancer and genetic testing Available guidance (NICE) Familial breast cancer /colonic/ovarian Familial Hypercholesteremia.

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

Page 6: Few more cases Cancer and cholesterol. Cancer and genetic testing Available guidance (NICE) Familial breast cancer /colonic/ovarian Familial Hypercholesteremia.

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

Page 7: Few more cases Cancer and cholesterol. Cancer and genetic testing Available guidance (NICE) Familial breast cancer /colonic/ovarian Familial Hypercholesteremia.

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

Page 8: Few more cases Cancer and cholesterol. Cancer and genetic testing Available guidance (NICE) Familial breast cancer /colonic/ovarian Familial Hypercholesteremia.
Page 9: Few more cases Cancer and cholesterol. Cancer and genetic testing Available guidance (NICE) Familial breast cancer /colonic/ovarian Familial Hypercholesteremia.

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

Page 10: Few more cases Cancer and cholesterol. Cancer and genetic testing Available guidance (NICE) Familial breast cancer /colonic/ovarian Familial Hypercholesteremia.
Page 11: Few more cases Cancer and cholesterol. Cancer and genetic testing Available guidance (NICE) Familial breast cancer /colonic/ovarian Familial Hypercholesteremia.

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

Page 12: Few more cases Cancer and cholesterol. Cancer and genetic testing Available guidance (NICE) Familial breast cancer /colonic/ovarian Familial Hypercholesteremia.

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

Page 13: Few more cases Cancer and cholesterol. Cancer and genetic testing Available guidance (NICE) Familial breast cancer /colonic/ovarian Familial Hypercholesteremia.

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

Page 14: Few more cases Cancer and cholesterol. Cancer and genetic testing Available guidance (NICE) Familial breast cancer /colonic/ovarian Familial Hypercholesteremia.

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

Page 15: Few more cases Cancer and cholesterol. Cancer and genetic testing Available guidance (NICE) Familial breast cancer /colonic/ovarian Familial Hypercholesteremia.

What about the Genetics?

Autosomal Dominantly InheritedMutation in LDL receptor geneIndividuals should be referred for

genotyping.

Page 16: Few more cases Cancer and cholesterol. Cancer and genetic testing Available guidance (NICE) Familial breast cancer /colonic/ovarian Familial Hypercholesteremia.

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

Page 17: Few more cases Cancer and cholesterol. Cancer and genetic testing Available guidance (NICE) Familial breast cancer /colonic/ovarian Familial Hypercholesteremia.

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

Page 18: Few more cases Cancer and cholesterol. Cancer and genetic testing Available guidance (NICE) Familial breast cancer /colonic/ovarian Familial Hypercholesteremia.

Resources:

NICE guidancewww.learnonline.nhs.uk/pacewww.geneticseducationnhs.ukOPERA online tool for patients via

MacMillan websiteBradford vts online resourceseGP learning modules


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