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Genetics for health professionals in cancer care : from principles to practice

Section 1 Putting cancer genetics into context Putting cancer genetics into context Introduction to putting cancer genetics into context Genetics/genomics Scientific advances in understanding of the human genome Organisation of genetics services Developments in government policy and public health that relate to genomics The implications of genomic medicine for cancer care Integrating genomics into cancer care Summary References Section 2 Cancer genetics: the basics Cancer genetics: the basics. Introduction Introduction to cancer genetics Knowledge about genetics/genomics amongst health professionals A framework for implementing genetics/genomics into nursing in the UK Core learning outcomes in genetics for other non-genetics health professionals in the UK Core competencies for health professionals across Europe Summary References Taking a cancer family history and drawing a family tree Introduction to taking a cancer family history and drawing a family tree The importance of a cancer family pedigree Standard pedigree nomenclature How to take and record a family pedigree Confidentiality and family pedigrees Psychosocial aspects of family history taking Challenges of family history taking Confirming the family history Summary References Basic cancer genetics Introduction to basic cancer genetics Cells, DNA, chromosomes and genes Gene mutations Patterns of inheritance X-linked recessive inheritance Autosomal recessive inheritance Autosomal dominant inheritance Genes and cancer Oncogenes Tumour suppressor genes and the Knudson two-hit hypothesis DNA repair genes Genetic testing in cancer References Cancer biology Introduction to cancer biology Cancer-related genetic errors Cancer-associated genetic errors Cell proliferation and the cell cycle Regulation of the cell cycle Cell proliferation in cancer Cell senescence Cell death Angiogenesis Hypoxia Invasion and metastasis Tumour immunology References Cancer genetics: the basics. Summary Introduction to section 2 summary Cancer genetics: the basics. Introduction Guided activities for Chapter 2 Further resources for Chapter 2 Taking a family history and drawing a family tree Guided activities for Chapter 3 Further resources for Chapter 3 Basic cancer genetics Guided activities for Chapter 4 Further resources for Chapter 4 Cancer biology Guided activities for Chapter 5 Further resources for Chapter 5 References Section 3 Genetics of specific cancers Genetics of specific cancers. Introduction Introduction to genetics of specific cancers The contribution of genes, lifestyle and the environment to the development of cancer Current practice in genetic testing for highly penetrant cancer-predisposing genes Tumour testing Germline testing Mutation search/diagnostic genetic testing Predictive testing Founder mutation testing Developments in genetic testing for cancer susceptibility Summary References Genetics of breast and ovarian cancer Introduction to genetics of breast and ovarian cancer Factors that increase the risk breast or ovarian cancer Breast cancer Ovarian cancer Genetic associations in breast and ovarian cancer High-penetrance breast and ovarian cancer predisposition genes Intermediate-penetrance breast and/or ovarian cancer predisposition genes Other genes that can increase breast cancer risk Tumour pathology and classification Breast cancer Ovarian and fallopian tube cancer Rationale for BRCA1 and BRCA2 gene testing Genetic testing criteria for breast and ovarian cancer susceptibility Summary References Genetics of colorectal, gastric and related gynaecological cancers Introduction to genetics of colorectal, gastric and related gynaecological cancers Colorectal cancer Non-polyposis syndromes Definition of Amsterdam I positive families Definition of Amsterdam II positive families Definition of Bethesda positive individuals/families Polyposis syndromes Hamartomatous polyposis syndromes Serrated/hyperplastic polyposis syndrome Gastric cancer Uterine cancer Ovarian cancer Summary References Genetics of prostate cancer Introduction to genetics of prostate cancer Prostate cancer Screening for prostate cancer Risk factors for prostate cancer Genetic risk factors for prostate cancer Genetic research in prostate cancer BRCA1, BRCA2 and HOXB13 genes and prostate cancer Rare variants predisposing to prostate cancer BRCA'-associated prostate cancer in diagnosed men Prostate screening for BRCA carriers and their relatives Screening for men with a family history of prostate cancer Genetic testing in men at risk of prostate cancer The association of genetic variants with treatment variables Summary References Genetics of rare cancer syndromes Introduction to genetics of rare cancer syndromes Birt-Hogg-Dube syndrome (BHDS)Carney complex Cowden syndrome/PTEV hamartoma syndrome Familial atypical mole and melanoma (FAMM)Gorlin syndrome/basal cell naevus syndrome Hereditary leiomyomatosis and renal cell cancer (HLRCC)Hereditary paraganglioma/phaeochromocytoma Muir-Torre syndrome (MTS)Multiple endocrine neoplasia type 1 (MEN1)Multiple endocrine neoplasia type 2 (MEN2)Peutz-Jehgers syndrome (PJS)Von Hippel-Lindau disease (VHL)Summary References Genetics of specific cancers. Summary Introduction to section 3 summary Genetics of specific cancers. Introduction Guided activity for Chapter 7 Further reading for Chapter 7 Chapters 8-11. Genetics of specific cancers and rare syndromes Guided activities for Chapters 8-10 Guided activities for Chapter 8 Further resources for Chapter 8 Guided activities for Chapter 9 Further resources for Chapter 9 Guided activities for Chapter 10 Guided activities for Chapter 11 Section 4 Cancer risk assessment and communicating risk Cancer risk assessment and communicating risk. Introduction Introduction to cancer risk assessment and communicating risk Risk in the context of cancer family history Cancer risk factors Assessing cancer family history Categorising and calculating cancer risk from the family history Risk perception Communicating risk Summary References Risk assessment in breast and ovarian cancer Introduction to risk assessment in breast and ovarian cancer Family history and cancer risk Familial risk in breast and ovarian cancer Breast cancer Triple-negative breast cancer Ovarian cancer Young-onset high-grade serous ovarian cancer Fallopian tube cancer Primary peritoneal cancer Ovarian cancer only families Prostate cancer Pancreatic cancer Rare BRCA2 related cancers Risk categorisation: near population, moderate-risk and high-risk groups of breast and ovarian cancer Near population, moderate- and high-risk categories Changing family histories and risk Summary References Risk assessment in colorectal, gastric and related gynaecological cancers Introduction to risk assessment in colorectal, gastric and related gynaecological cancers Obtaining a family history of CRC, GC and related gynaecological cancers Specific questions relating to a family history of CRC, GC and related gynaecological cancers Confirmation of a family history of CRC, GC and related gynaecological cancers Assessing a family history of CRC, GC and related gynaecological cancers Inherited GC Histology and tumour test results Familial risk When a patient with a family history of CRC, GC or related gynaecological cancer should be referred to genetics services and why Summary References Cancer risk assessment and communicating risk. Summary Introduction to section 4 summary Cancer risk assessment and communicating risk. Introduction Guided activities for Chapter 13 Chapters 14 and 15 Cancer risk assessments Guided activities for Chapters 14 and 15 Guided practice for Chapters 14 and 15 References Section 5 Early detection of hereditary cancer Early detection of hereditary cancer. Introduction Introduction to early detection of hereditary cancer Aims of screening Principles of screening for early detection of cancer Key elements of a screening test Limitations and potential harms of screening The availability of high-risk screening in the UK Psychological impact of screening on individuals at high risk of cancer Summary References Early detection of hereditary breast cancer Introduction to early detection of hereditary breast cancer Breast screening services Normal-risk population Screening for women with a family history of breast cancer Screening for women at moderate risk Screening for women at high risk BRCA1/2 and equivalent risk TP53 and equivalent risk Benefits, limitations and harmful effects of screening Benefits Limitations and harmful effects Over-diagnosis QA in breast screening References Early detection of hereditary colorectal and gastric cancer Introduction to early detection of hereditary colorectal and gastric cancer Methods for CRC screening Faecal occult blood testing (FOBT)Flexible sigmoidoscopy Colonoscopy Screening the average-risk population: the UK BCSP Outcomes of the BCSP Screening groups at increased risk for CRC Lynch syndrome Familial adenomatous polyposis (FAP)Colorectal surveillance in FAP Upper gastrointestinal surveillance in FAP MUTYH-associated polyposis (MAP)Peutz-Jeghers syndrome (PJS)Juvenile polyposis (JPS)Screening for patients at moderately increased risk of CRC Gastric cancer Screening for GC Summary References Early detection of hereditary gynaecological cancers Introduction to early detection of hereditary gynaecological cancer The rationale for screening Gynaecological cancer screening—the tests Ovarian cancer screening in high-risk women Early detection using symptoms Future OC screening strategies Screening for endometrial cancer Summary References Early detection of hereditary cancer. Summary Introduction to section 5 summary Early detection of hereditary cancer. Introduction Guided activities for Chapter 17 Early detection of hereditary breast cancer Guided activities for Chapter 18 Further reading for Chapter 18 Early detection of hereditary colorectal and gastric cancer Guided activities for Chapter 19 Early detection of hereditary gynaecological cancers Guided activities for Chapter 20 References Section 6 Reducing the risk of cancer Reducing the risk of cancer. Introduction Introduction to reducing the risk of cancer Chemoprevention Risk-reducing surgery The importance of a multidisciplinary approach to facilitating informed decision-making about risk-reducing options Summary References Reducing the risk of breast cancer Introduction to reducing the risk of breast cancer Options for reducing the risk of breast cancer Chemoprevention Risk-reducing mastectomy Surgical options for reducing breast cancer risk The risks, benefits and limitations of surgical risk reduction Breast reconstruction Prosthetic reconstruction Autologous reconstruction Nipple reconstruction Summary References Reducing the risk of colorectal and gastric cancer Introduction to reducing the risk of colorectal and gastric cancer Environmental and lifestyle risk factors for CRC and GC Obesity Diet Smoking Alcohol Exercise Inflammation and infection Preventative measures Aspirin and non-steroidal anti-inflammatory drugs (NSAIDs)Antioxidants, trans-resveratrol and calcium Risk-reducing surgery Colectomy Polypectomy Gastrectomy in hereditary diffuse gastric cancer (HDGC)Summary References Reducing the risk of gynaecological cancers Introduction to reducing the risk of gynaecological cancer Principles of risk-reducing gynaecological surgery Occult cancers detected as a result of risk-reducing surgery Primary peritoneal cancer Timing of surgery Hormonal considerations Surgical considerations Patient-specific factors Type of surgical intervention Box 25.1 Recommended points of information when consenting for risk-reducing gynaecological surgery Premenopausal women only All women Screening for familial gynaecological cancers Lifestyle modifications Summary References Reducing the risk of cancer. Summary Introduction to section 6 summary Reducing the risk of cancer. Introduction Guided activities for Chapter 22 Reducing the risk of breast cancer Guided activities for Chapter 23 Reducing the risk of colorectal and gastric cancer Guided activities for Chapter 24 Reducing the risk of gynaecological cancers Guided activities for Chapter 25 Further reading for Chapter 25 Reference Section 7 Managing hereditary cancer Managing hereditary cancer. Introduction Introduction to managing hereditary cancer The impact of a cancer-predisposing gene mutation on cancer management The psychosocial impact of genetic testing close to cancer diagnosis Practical challenges for health professionals in cancer care and genetics in managing genetic testing of newly diagnosed cancer patients Summary References Managing hereditary breast cancer Introduction to managing hereditary breast cancer Accommodating genetic testing in the early breast cancer timeframe Management of the index breast Systemic therapy in mutation carriers Management of the contralateral breast The support needs of women with hereditary breast cancer Case studies to illustrate key issues Carrier status detection based on risk assessment guided by age and phenotype risk factor rather than significant family history Importance of residual disease as a predictor of significant persisting risk: an example where contralateral mastectomy was advised against/delayed Definitive surgical approach: impact on reconstruction options of preceding therapy/surgical choices Summary References Managing hereditary colorectal and gastric cancer Introduction to managing hereditary colorectal and gastric cancer Diagnosis Surgical resection Chemotherapy Targeted agents Surveillance Survivorship Summary References Managing hereditary gynaecological cancers Introduction to managing hereditary gynaecological cancer Hereditary OC BRCA-related OC Management of BRCA-related OC Follow-up of BRCA-related OC Treatment of recurrent disease in BRCA-related OC BRCA genetic testing for women with high-grade serous OC Lynch syndrome-related OC Hereditary EC Lynch syndrome-related EC Management of LS-related EC References Managing hereditary cancer. Summary Introduction to section 7 summary Managing hereditary cancer. Introduction Guided activities for Chapter 27 Chapters 28-30. Managing hereditary cancer Guided activities for Chapters 28-30 Further resources for Chapters 28-30 Section 8 Genetic counselling and supporting individuals with a family history of cancer Genetic counselling and supporting individuals with a family history of cancer. Introduction Introduction to genetic counselling and supporting individuals with a family history of cancer The process of genetic counselling The provision of genetic counselling in the UK and Europe Evaluating the effectiveness of genetic counselling The concept of family in relation to genetics Family communication about hereditary cancer Information and support Summary References Genetic counselling about cancer predisposition Introduction to genetic counselling about cancer predisposition The initial genetic counselling consultation Pre-test genetic counselling Post-test genetic counselling and management of mutation carriers The psychological impact of genetic counselling and genetic testing Genetic testing in childhood Reproductive options for genetic testing Prenatal diagnosis Pre-implantation genetic diagnosis Summary References Psychosocial issues and supporting individuals with a family history of cancer Introduction to psychosocial issues and supporting individuals with a family history of cancer Psychosocial issues involved in living with a cancer family history Psychosocial issues involved in decisions about risk management Assessment of psychological issues Management of psychosocial issues Cognitive behavioural therapy Solution focused therapy Systemic or family therapy Other approaches The role of peer support Case study: example of support for a patient diagnosed with a family history of breast cancer Summary References Ethical and cultural issues Introduction to ethical and cultural issues Culture Ethical principles Informed consent Confidentiality and disclosure The right to know versus the right not to know Ethical dilemmas in cancer genetics and how these are managed Summary References Genetic counselling and supporting individuals with a family history of cancer. Summary Introduction to section 8 summary Genetic counselling and supporting individuals with a family history of cancer. Introduction Guided activity for Chapter 32 Further resource for Chapter 32 Genetic counselling about cancer predisposition Guided activity for Chapter 33 Further resources for Chapter 33 Psychosocial issues and supporting individuals with a family history of cancer Guided activity for Chapter 34 Further resources for Chapter 34 Ethical and cultural issues Guided activity for Chapter 35 Further resources for Chapter 35 References Section 9 Managing cancer family history in primary, secondary and palliative care Managing cancer family history in primary, secondary and palliative care. Introduction Introduction to managing cancer family history in primary, secondary and palliative care Background Managing cancer family history within genetics services Managing cancer family history within primary and secondary care Family history questionnaires Telephone clinics Nurse-led cancer family history clinics Managing cancer family history within palliative care Summary References Experiences of managing cancer family history in primary care Introduction to experiences of managing cancer family history in primary care Breast cancer family history clinics in primary care The Breast Cancer Risk Assessment Service Evaluation of the BCRAS over the third year of the service Benefits and challenges Location of clinics Accessing the clinics Raising awareness and developing relationships across organisational boundaries Providing accurate risk assessment Summary References Experiences of managing cancer family history in secondary care Introduction to experiences of managing cancer family history in secondary care Rationale for setting up the clinics Experience of running the clinics The Breast Cancer Family History Clinic The Colorectal Cancer Family History Clinic Benefits Challenges and lessons learned Facilitating transition to the new service Managing family dynamics and maintaining confidentiality Helping patients to accept screening recommendations Establishing confidence amongst local colleagues Changing funding and support needs Summary References Experiences of managing cancer family history in palliative care Introduction to experiences of managing cancer family history in palliative care Palliative care Why so late?Discussing and assessing family history at end of life Looking to the future: opportunities of cancer risk assessment in the palliative care setting Summary References A practical guide to setting up a cancer family history clinic in primary or secondary care Introduction to a practical guide to setting up a family history clinic in primary or secondary care Collaborative working Benefits of a cancer family history clinic for patients and health professionals Key elements involved in setting up a cancer family history clinic in primary or secondary care Engagement of stakeholders in the planning and design of the service Collaboration with genetics and screening services Access to ongoing cancer genetics education Organisation of service Take the family history and draw a family tree Work out whether or not the cancer risk is increased Explain the screening plan Refer to genetics if appropriate Closing Summary References Managing cancer family history in primary, secondary and palliative care. Summary Introduction to section 9 summary Managing cancer family history in primary, secondary and palliative care. Introduction Guided activity for Chapter 37 Further resource for Chapter 37 Chapters 38-40. Managing cancer family history in primary, secondary and palliative care Guided activity for Chapters 38-40 Further resources for Chapters 38-40 A practical guide to setting up a cancer family history clinic in primary or secondary care Guided activities for Chapter 41 Further resource for Chapter 41 Reference

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