Introduction Curriculum links and transferable skills Cancer Syndromes › Breast/Ovarian Cancer › Colorectal Cancer Cases Patient Resources References
Difficult area of curriculum to cover Interesting topic Surprisingly common and applicable to everyday consultations
1 in 3-4 Of the general population will develop cancer during their lifetime Breast cancer: 1 in 9 women Ovarian cancer: 1 in 35 women Bowel cancer: 1 in 18 men, 1 in 20 women Incidence increases with age (risk factor) 1 in 20 cases of cancer have a genetic basis
It has been estimated that at least one in 10 of the patients seen in primary care has a disorder with a genetic component. Genetic knowledge, skills and attitudes are important to general practitioners providing support and management to patients and families with, or at risk of, genetic conditions. Consideration of the family history in, for example, cancer, cardiovascular disease and diabetes, and understanding genetic aspects of antenatal and newborn screening, are particularly important. General practitioners have a key role in identifying patients and families who would benefit from being referred to appropriate specialist genetic services.
Studies indicate that around 25–35% of some common cancers, including breast, bowel and prostate cancers, have a heritable component. The identification of genes predisposing to breast, ovarian and colon cancers has led to an increase in the number of people referred to cancer genetics services. In 2002, around 40% of cancer genetics referrals to clinical genetics departments came direct from GPs, and GPs dealt with an average of one or two consultations relating to family cancer a month. Referenced in National Service Framework – Cancer: The Cancer Plan, NICE guidance – breast and colorectal cancer
Ability to recognise, refer appropriately and reassure if family history only suggests population risk only Staged counselling, screening and health promotion Impact of health and disease on patient and family Providing and co-ordinating long term care Consideration of ethical implications Extensive genetic knowledge not required
Younger age at diagnosis of cancer Multiple family members affected Same cancers Bilateral, or multiple primaries Related cancers.... (unusual cancers)
40-50 patients age 35-64 per 2000 patients in GP have 1 first degree relative with colorectal, breast, ovarian or uterine cancer (UK) Breast/ovarian cancer syndromes: BRCA 1 + 2 › Ass. cancers: Male Breast Cancer, Prostate Cancer, Certain melanomas, association with CML / renal cell carcinoma Colorectal cancer syndromes: FAP / HNPCC › HNPCC associated cancers: ovarian, endometrial, gastric, biliary, urinary tract
BRAC1 main gene - DNA repair gene. BRAC2 secondary gene If present: › Breast cancer risk rises sharply after 35 years › Ovarian cancer risk rises sharply after 45 years › 90% will have had one or other by age 80y
Faulty gene already identified Which relatives are affected? › First degree, second degree, maternal or paternal side Detailed information › Age at diagnosis › Certainty of diagnosis Family history of other/unusual cancers Bilateral breast cancer is counted twice Jewish ancestry Encourage patient to discuss family history with relatives – poor communication can impede collection of information
Include: › Name, DOB, address, NHS number, (telephone number) › Whatever family history available › Name(s) of affected family members if seen by any genetics team › (Pregnant or non-pregnant) Yorkshire Regional Genetic Service › Medical Staff: Consultants, Registrars › Genetic Counsellors › Family History Administrators › DNA / Cytology labs › Based at LGI: switchboard 0113 243 2799 Other specialties: Paediatrics, Midwives Other services: Haemoglobinopathy and Sickle Cell Service GPwSI in Genetics
Referral received (can be via secondary care) Questionnaire sent out by family history administrators and returned by pt Consultants review referral and FH Triage to Genetic Counsellor / Consultant Often initial contact with Genetic Counsellor
Information gathering: › Discuss family history › Identify patient concerns / wishes Information provision: › Explain risks and genetic contribution › Discuss screening if appropriate › Preventative measures › Discuss tests if appropriate Decision making: › Guide patient through difficult choices › Institute management which patient chooses Non-directive Doesn’t always result in a test!
If risk of gene common gene mutation >20% and affected relative available 1 st stage search for genetic mutation in affected relative – BRCA1 or BRCA2 or TP53 or less common gene if clinical features suggest If causative mutation not found then genetic testing on woman unlikely to be informative but doesn’t mean there is not definitely a gene fault present If causative mutation found then a predictive test (family specific mutation test) made available to all female blood relatives › If negative reassured and no risk of transmission to children, breast cancer risk same as general population › If positive risk of cancer increased, each of her children have 50% risk of inheriting the gene fault Results available within 2 weeks where mutation already known, 8 weeks if not
Discuss risks and benefits and then offer: › Mammographic/MRI annual surveillance if: Moderate to high risk aged 40-49 Known BRCA1, BRCA2 or TP53 mutations or high risk aged 30-49 › Individual strategies for women for high risk/known mutation aged >50 (moderate risk can step down to normal 3 yearly surveillance) › Ovarian screening via research study Risk reduction surgery - prophylactic bilateral mastectomy +/- oophrectomy › Only appropriate for small number of high risk families, doesn’t prevent all breast cancers › If considering but no gene defect – strict thorough assessment of medical records/cancer registry/death certificates – MDT review prior
Breast awareness Encourage attendance at local breast screening programme (from 2012 women aged 47-73), older women can self-refer Modifiable risk factors › Increased risk of breast cancer Alcohol consumption Obesity Older age at first pregnancy › Reduced risk of breast cancer Moderate physical activity Breastfeeding Increased number of births
Risk changes with age and family history changes If aged <40 years – return at 40 years for referral for surveillance if: › One first degree relative <40 years at age of diagnosis › One first AND one second relative >50 years average age at diagnosis › Two first degree relatives aged >50 years on average at diagnosis
FHx of breast cancer › UKMEC – FHx not a contraindication to any forms of contraception UKMEC 1 (unrestricted use) Genetic mutation › COCP is UKMEC 3 (risks generally outweigh benefits) › Progesterone methods UKMEC 2 (benefits generally outweigh risks)
Get specialist advice if wants HRT but fulfils criteria for specialist assessment for breast cancer risk General advice › Increased risk of breast cancer with HRT dependent on dose and duration (2 fold increase at 10 years but small for 2 years duration, risk disappears 5 years after stopping it) › FHx breast cancer same relative risk increase as general population › Oestrogen-only methods only if no uterus › As low a dose as possible for shortest duration If moderate to high risk of breast cancer only give HRT up to age 50
Familial Polyposis Coli › Gene Test › Annual screens › Consider prophylactic surgery Hereditary Non-Polyposis Colon Cancer (HNPCC) › Three cases needed - all 1 st degree relatives, one under 50 years › Regular screens › Consider right hemi-colectomy
Family HistoryLifetime Risk No family history2% 1x 1 st degree relative6% 1x 1 st degree + 2x 2 nd degree8% consider screening 1x 1 st degree aged <45years10% screen – 5 or 10 yearly colonoscopies 2x 1 st degree relative17% screen HNPCC70% screen
Mrs. Brown is worried because three of her family members have died of cancer. What do we need to find out?
Is she symptomatic e.g. breast lump, PR bleeding › If so, fast-track referral as appropriate. If asymptomatic then need further risk assessment: › More detailed family history › Have any of the family members been referred to Genetic services? Is there a known genetic mutation in the family? › Does she fit any referral criteria?
Her mother died of breast cancer aged 45, her maternal aunt was diagnosed with ovarian cancer aged 72, and her maternal grandmother was also diagnosed with breast cancer, but she’s not sure how old she was. What would you do now? What information would you give her?
Her sister was diagnosed and died of cervical cancer in her late 30’s. This was more of a shock as it came just after her paternal grandfather (who was a heavy smoker) died of lung cancer. Her paternal aunt (who is now in her 60’s) she thinks was diagnosed with breast cancer about 10 years ago. What would you do now? What information would you give her?