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Marketing Fragment 6 X 10.5.T65 Cambridge University Press 978-0-521-68563-4 - A Practical Guide to Human Cancer Genetics, Third Edition Shirley Hodgson, William Foulkes, Charis Eng and Eamonn Maher Index More information Index Note: page numbers in italics refer to figures and tables N-acetyltransferase alcohol, laryngeal cancer 29 acetylation 61 Allgrove syndrome 43 activity 118 alpha-1 antitrypsin deficiency, hepatocellular achalasia, oesophageal cancer 43 carcinoma 49 acoustic neuroma alphafetoprotein 214 NF2 235–6 alveolar cell carcinoma 30, 31 see also vestibular schwannoma amine compounds, bladder cancer 118, 119 acromegaly, familial 37 Amsterdam Criteria 203 actinic keratosis 148 androgen-insensitivity states, incomplete 111 acute lymphoblastic leukaemia (ALL) angiomyolipomas 247 classification 233 aniridia, sporadic 112, 113, 114 cytogenetic analysis 123–4 anticipation translocations 168 AML 123 acute myeloid leukaemia (AML) 183–4 leukaemia 122 anticipation 123 APC gene classification 120 mutations 190 Klinefelter syndrome 214 benign 191 Kostman syndrome 215 Gardner syndrome 186 acute myelomonocytic leukaemia 233, 234 Turcot syndrome 251 acute promyelocytic leukaemia 168 polymorphism in colon cancer 60 adenocarcinoma, see renal cell carcinoma APKD1 gene 249–50 adenosine deaminase deficiency 245 arsenic 51, 147 adrenal gland tumours asbestos 30 adrenocortical adenoma/carcinoma astrocytoma 13–14 39–40 ataxia telangiectasia 167–9 phaeochromocytoma 37–9 breast cancer 168 adrenocortical hyperplasia 40 gastric adenocarcinoma 46 aflatoxin 48, 51 locus 168 Aicardi syndrome 13 lymphoma 127 AIDS, Kaposi sarcoma 137 medulloblastoma 16 albinism Nijmegen breakage syndrome 75, 240 BADS syndrome 150 prenatal diagnosis 168 basal cell carcinoma 147 ataxia-telangiectasia-like disorder (ATLD)169 Cross syndrome 150 ATM gene 77, 168 oculocutaneous 150 atypical mole syndrome (AMS) 141 brown/rufous 150 atypical mole-melanoma syndrome 27, 140, tyrosinase-negative 148 141 tyrosinase-positive 149 autosomal recessive childhood cancer variable tyrosinase test 149 predisposition syndrome 209 381 © Cambridge University Press www.cambridge.org Cambridge University Press 978-0-521-68563-4 - A Practical Guide to Human Cancer Genetics, Third Edition Shirley Hodgson, William Foulkes, Charis Eng and Eamonn Maher Index More information 382 Index B-K mole syndrome 141 Bowen disease, multiple 244 BADS syndrome 150 brain glioma, NF1 232, 234 Bannayan–Riley–Ruvalcaba syndrome(BRRS) brain tumours 48, 169 familial adenomatous polyposis (FAP) 189 Bannayan–Zonana syndrome, see Bannayan– family history 11 Riley–Ruvalcaba syndrome Li–Fraumeni syndrome 215 Barrett oesophagus 43 brain stem haemangioblastoma 253 basal cell carcinoma (BCC) (skin) 147 BRCA1 70–6 Flegel disease 155 breast cancer susceptibility 70 Gorlin syndrome 199 gene function 73–6 Muir–Torre syndrome 228 germline mutation frequency 72 oculocutaneous albinism 148–50 mutations Rombo syndrome 162 colon cancer 60–1 trichoepithelioma 162–3 fallopian tube carcinoma 89 xeroderma pigmentosum (XP) 260 ovarian carcinoma 77 Bayesian risk calculation 192 prostate cancer 107–8 Bazex syndrome 147, 150 relative disease risk in carriers 72 Beckwith–Wiedemann syndrome (BWS) 114, screening 81, 84 137, 170–1 Wilms tumour 112–15 adrenocortical tumours 39–40 BRCA2 70–6 diagnosis 171 breast cancer susceptibility 70, 72 genetics 171 fallopian tube cancer 71 hemihypertrophy 172, 200 gene function 73–6 neoplasia incidence 172 germline mutation frequency 70 neuroblastoma 17–18 mutations pancreatoblastoma 54 colon cancer 60–1 Perlman syndrome, differential diagnosis 171 fallopian tube carcinoma 103 rhabdomyosarcoma 137 gastric cancer 46–47 screening 173 male breast cancer 72 Wilms tumour 48, 112, 114 ovarian carcinoma 97, 102 Bethesda guidelines 204–5 pancreatic tumours 52 biliary tract tumours 51 prostate cancer 108 Birt–Hogg–Dubé (BHD) syndrome 173 relative disease risk in carriers 46 Blackfan–Diamond syndrome 174 screening 81, 84 bladder cancer 117–19 pancreatic cancer 52 familial clusters 118 breast cancer 67–70, 84 genetic susceptibility 119 ataxia telangiectasia 77 Muir–Torre syndrome 228 BRCA1 and BRCA2 screening 179 cancer risks 70–4 Bloom syndrome 133, 139, 174–6 function 73–6 protein (BLM) 175 chemoprophylaxis 84 Wilms tumour 112 counselling 79–81 blue rubber bleb naevus syndrome 141–42, 173 Cowden disease 76, 77, 84, 179 BMPR1A mutations 212–13 epidemiology and family history 67–70 bone tumours 132–8 genes 67, 69, 70, 74, 76–7 Ewing sarcoma 136 genetic counselling 79–81 osteosarcoma 133–5 hereditary basis 67 rhabdomyosarcoma 136–7 histopathology sacrococcygeal teratoma 138 genetics, relationship to 78–9 soft tissue sarcomas 137 HRAS proto-oncogene polymorphism 77 synovial sarcoma 137 incidence 68 © Cambridge University Press www.cambridge.org Cambridge University Press 978-0-521-68563-4 - A Practical Guide to Human Cancer Genetics, Third Edition Shirley Hodgson, William Foulkes, Charis Eng and Eamonn Maher Index More information 383 Index Klinefelter syndrome 214 Carney syndrome, see Carney complex Li–Fraumeni syndrome 76, 84 carrier clinics 6–7 male 71, 72, 85, 214 catecholamines, urinary in neuroblastoma management of familial 82 18–19 medullary 46, 78 cavernous haemangioma 15, 25 ovarian cancer susceptibility overlap 76 CDKN1C gene mutations 172 p53 tumour suppressor gene mutations 144, 146 CDKN2A tumour suppressor gene 143, 145 Peutz–Jeghers syndrome 77, 240–43 mutations 144 post-menopausal onset 76 central nervous system 11 predictive testing 86, 87, 90 cerebellar haemangioblastoma 15, 252–253 prophylactic mastectomy 84 cerebellar medulloblastoma 174 risk 84, 155 cerebral glioma 13, 14 screening 81–5 cervical carcinoma 104 magnetic resonance imaging 83–4 Chediak–Higashi syndrome 149–50 susceptibility 76–7, 79, 80 chelitis glandularis 151 tubular 46, 78 chemodectoma, see glomus tumours see also BRCA1, BRCA2 chemoprophylaxis 66 breast disease breast cancer 84 benign 78 cholangiocarcinoma 47, 51 fibrocystic 181 choledochal cysts 52 hyperplastic proliferative 78 cholelithiasis 52 breast self-examination 182 chondrosarcoma 135–6 Brooke–Spiegler syndrome 163 Maffucci syndrome 136, 217–218 see also multiple cylindromatosis myxoid extraskeletal 137 BUB1B 219 choriocarcinoma 89 BUBR1 219 choroid plexus tumours 12–13 chromosome 1p deletion 18 café-au-lait spots chromosome 3 NF1 231, 232 deletion in nasopharyngeal carcinoma 29 NF2 236 chromosome 7q 15, 53 Calman–Hine model 7 chromosome 9p21 deletion 14 cancer predisposition testing 5, 209 chromosome 11 allele loss 37 candidiasis chromosome 11p15.5 172 chronic mucocutaneous syndrome 151 chromosome 11q13 37 KID syndrome 148, 156 chromosome 13 allele loss 37 capillary morphogenesis gene-2 (CMG2) 156 chromosome 13q14 22–3 carcinogens, environmental 117, 118 chromosome 22 16, 17 basal cell carcinoma 147 chronic lymphocytic leukaemia (CLL) 124–5 bladder cancer 117, 118 HLA haplotype 124 CML 123 chronic myeloid leukaemia (CML) 123–4 hepatocellular carcinoma 48 Philadelphia chromosome 123 squamous cell carcinoma 147 cirrhosis 48, 49, 50 carcinoid tumours 55 childhood 50–1 cardiac tumours 32 familial 50 fibroma 32, 198 Clouston syndrome 153 myxoma 32 Coat disease 26 rhabdomyoma 32 Cockayne syndrome 177–8, 261 Carney complex 17, 32, 159, 176–7 CS-B gene product 177 pituitary adenoma 176 coeliac disease 178 Sertoli cell tumours 109 familial clustering 178 testicular tumour 176 HLA association 178 © Cambridge University Press www.cambridge.org Cambridge University Press 978-0-521-68563-4 - A Practical Guide to Human Cancer Genetics, Third Edition Shirley Hodgson, William Foulkes, Charis Eng and Eamonn Maher Index More information 384 Index coeliac disease (cont.) Crohn disease 55 oesophageal cancer 43, 178 Cronkhite–Canada syndrome 56 small bowel lymphoma 55, 178 Cross syndrome 150 colon adenoma, HNPCC 202 cryptorchidism, testicular cancer 109, 110 colon cancer 57–61 CTNNBI mutations 160 BRCA1 mutations 60–1 Cushing syndrome 39 family history 58 cutaneous leiomyoma, multiple 157–8 genetic factors 57–8 cutaneous neurofibromas 233 Muir–Torre syndrome 59, 228–9 CYLD gene multistep pathogenesis 63 R758X mutation 158 screening 65 cylindromatosis, multiple 158 colon multiple polyposis, Turcot syndrome 250 cystic fibrosis 50 colonic polyps 57, 58, 59 colonoscopy De Sanctis–Caccione syndrome 260 HNPCC screening 207 De Toni–Fanconi syndrome 50 colorectal cancer Denys–Drash syndrome 183 familial adenomatous polyposis 191 Frasier syndrome 183 germline mutations 206 Wilms tumour 113, 114 risk 58 dermatological malignancy, conditions screening 207 predisposing to 148–63 see also colon cancer, rectal tumours Bazex syndrome 150–1 common bile duct atresia 50 candidiasis 151 common variable immunodeficiency 127, 129, cheilitis glandularis 151 178–9 congenital generalised fibromatosis 152 communication, risk 5 dyskeratosis congenita 152–3 congenital hypertrophy of the retinal pigment ectodermal dysplasia 153 epithelium (CHRPE) 186–8, 190 epidermodysplasia verruciformis 155 Costello syndrome 179 epidermolysis bullosa 153–5 counselling Ferguson-Smith self-healing epithelioma 155 breast cancer 79–81 Flegel disease 155 Gorlin syndrome 199 Gorlin syndrome 195 HNPCC 209 juvenile hyaline fibromatosis 155 Peutz–Jeghers syndrome 240 KID syndrome 156 pre-test interviews 6 Klippel–Trenaunay syndrome 156 retinoblastoma 22 lichen planus 156–7 Cowden disease (syndrome) 33, 34, 36, 179–83 lichen sclerosis et atrophicus 157 adenomatous polyps 55 mast cell disease 157 breast cancer 76–7, 179, 181 multiple cutaneous leiomyomas 157–8 diagnosis 179–81 multiple
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