B Base excision repair, in MUTYH-associated polyposis and colorectal cancer, BRAF testing, for hereditary colorectal cancer, 696

Size: px

Start display at page:

Download "B Base excision repair, in MUTYH-associated polyposis and colorectal cancer, BRAF testing, for hereditary colorectal cancer, 696"

Theodore Brown
5 years ago
Views:

1 Index Note: Page numbers of article titles are in boldface type. A Adenomatous polyposis, familial. See Familial adenomatous polyposis. Anal anastomosis, ileal-pouch, proctocolectomy with, in FAP, , Anastomosis, ileal-pouch anal, proctocolectomy with, in FAP, , ileorectal, colectomy with, in FAP, , Attenuated familial adenomatous polyposis syndrome, genetic testing for, 691 B Base excision repair, in MUTYH-associated polyposis and colorectal cancer, BRAF testing, for hereditary colorectal cancer, 696 C Carcinogenesis, of colorectal cancer, genetic model for, Caretaker genes, in colorectal cancer, Chromosomal instability, in colorectal cancer, Classification, of colorectal cancer genes, gatekeepers, caretakers, and landscapers, oncogenes and tumor suppressor genes, Colectomy, previous segmented, surgical management of HNPCC patients with, 711 total abdominal, with ileorectal anastomosis for FAP, with ileorectal anastomosis in FAP, Colon cancer, newly diagnosed in patients with HNPCC, surgical management of, Colorectal cancer, genetics of, familial adenomatous polyposis (FAP), colorectal surgery, desmoid disease, extracolonic manifestations, 588 gastroduodenal polyps, genetic testing, 587 genetics, 587 history, incidence and epidemiology, 586 presentation, 588 workup, 589 familial type X, genetic counseling for, definition of genetic counselor, 669 pretest session, process of, genetic testing for, Surg Oncol Clin N Am 18 (2009) doi: /s (09) surgonc.theclinics.com /09/$ see front matter ª 2009 Elsevier Inc. All rights reserved.

2 718 Index Colorectal (continued) adenomatous polyposis syndromes, attenuated FAP, 692 FAP, 692 familial colorectal cancer syndrome type X, hamartomatous polyposis syndromes, hereditary mixed polyposis syndrome, 692 immunohistochemical staining, in family members, Lynch syndrome, 697 microsatellite instability, MLH1 promoter methylation and BRAF testing on tumor DNA, 696 MUTYH-associated polyposis, 692 nonpolyposis syndromes, 693 polyposis syndromes, unexpected results, 696 genome-wide association studies and, human genetic variation and study of complex diseases, published studies, research needs, 666 hmsh2 and hmlh1 genes in hereditary nonpolyposis, biology of, 614 genotype-phenotype correlations, history, microsatellite testing and immunohistochemistry, mutation testing, 613 population variation and founder mutations, 614 variants of uncertain significance, 614 less common predisposition syndromes, hamartomatous polyposis syndrome, hyperplastic polyposis, juvenile polyposis syndrome, Peutz-Jeghers syndrome, MSH6 and PMS2 in, MUTYH-associated polyposis and, age at onset of colorectal polyposis and cancer, 604 clinical surveillance of large bowel for biallelic carriers, extracolonic features and surveillance, 605 identification of MUTYH as a susceptibility gene for, 600 inherited as a recessive trait, issues for relatives of an index biallelic carrier case, molecular pathogenesis of, 601 opportunisitc surgical prophylaxis for biallelic carriers, outline of base excision repair and relevance to, pathology and tumor microsatellite instability status, population differences in allele frequency, 604

3 Index 719 prophylaxis for biallelic mutation carriers, risk associated with heterozygous alleles, 602 overview, classes of genes, genetic model for carcinogenesis, historical perspective, mutator pathways in, surgery for, familial adenomatous polyposis, hereditary nonpolyposis colorectal cancer, Counseling, genetic, for hereditary colorectal cancer, definition of genetic counselor, 669 educational component, 672 legal, ethical, and psychosocial issues, direct-to-consumer testing, disclosure of results, genetic discrimination, impact of cancer in the family, 672 motivations and deterrents for testing, 673 physician s duty to warn, prenatal screening and preimplantation genetic diagnosis, psychologicl impact on, testing of minors, 675 pretest session, process of, risk assessment, CpG island methylation, in colorectal cancer, 579 D Desmoid disease, in FAP, Direct-to-consumer testing, genetic, for hereditary colorectal cancer, Disclosure, of results, of genetic testing for hereditary colorectal cancer, Discrimination, genetic, due to genetic testing, DNA mismatch repair, role of MSH6 and PMS2 in, Duty to warn, physician s, in genetic testing for hereditary colorectal cancer, E Educational component, of genetic counseling for hereditary colorectal cancer, 672 Endometrial cancer, surgical options for women with HNPCC, 712 Epidemiology, genome-wide association studies and colorectal cancer, of FAP, 586 Ethical issues, in genetic counseling for hereditary colorectal cancer, direct-to-consumer testing, disclosure of results, genetic discrimination,

4 720 Index Ethical (continued) impact of cancer in the family, 672 motivations and deterrents for testing, 673 physician s duty to warn, prenatal screening and preimplantation genetic diagnosis, psychological impact on, testing of minors, 675 F Familial adenomatous polyposis (FAP), colorectal surgery, colectomy with ileorectal anastomosis, factors influencing choice and timing of, proctocolectomy with ileal-pouch anal anastomosis, desmoid disease, extracolonic manifestations, 588 gastroduodenal polyps, genetic testing, 587, for attenuated FAP, 691 genetics, 587 history, incidence and epidemiology, 586 presentation, 588 role of surgery in, restorative proctocolectomy and ilea-pouch anal anastomosis, 708 surveillance and timing of, 709 total abdominal colectomy and ileorectal anastomosis, workup, 589 Familial colorectal cancer type X, genetic testing for, HNPCC and, Family history, in genetic counseling for hereditary colorectal cancer, FAP. See Familial adenomatous polyposis. Founder mutations, of hmsh2 and hmlh1 genes in HNPCC, 614 G Gastroduodenal polyps, in FAP, Gatekeeper genes, in colorectal cancer, Genetic counseling, for hereditary colorectal cancer, definition of genetic counselor, 669 educational component, 672 legal, ethical, and psychosocial issues, direct-to-consumer testing, disclosure of results, genetic discrimination, impact of cancer in the family, 672 motivations and deterrents for testing, 673 physician s duty to warn, prenatal screening and preimplantation genetic diagnosis,

5 psychological impact on, testing of minors, 675 pretest session, process of, risk assessment, Genetic testing, direct-to-consumer, legal and ethical issues, for hereditary colorectal cancer, adenomatous polyposis syndromes, attenuated FAP, 692 familial colorectal cancer syndrome type X, FAP, 587, 692 hamartomatous polyposis syndromes, hereditary mixed polyposis syndrome, 692 immunohistochemical staining, in family members, Lynch syndrome, 697 microsatellite instability, MLH1 promoter methylation and BRAF testing on tumor DNA, 696 MUTYH-associated polyposis, 692 in differential diagnosis for nonpolyposis colorectal cancer, 698 nonpolyposis syndromes, 693 polyposis syndromes, unexpected results, 696 motivations and deterrents for, 673 Genetics, familial colorectal cancer type X, HNPCC and, genome-wide association studies and colorectal cancer, human genetic variation and study of complex diseases, published studies, research needs, 666 hmsh2 and hmlh1 genes in HNPCC, biology of, 614 genotype-phenotype correlations, history, microsatellite testing and immunohistochemistry, mutation testing, 613 population variation and founder mutations, 614 variants of uncertain significance, 614 MUTYH-associated polyposis and colorectal cancer, age at onset of colorectal polyposis and cancer, 604 clinical surveillance of large bowel for biallelic carriers, extracolonic features and surveillance, 605 identification of MUTYH as a susceptibility gene for, 600 inherited as a recessive trait, issues for relatives of an index biallelic carrier case, molecular pathogenesis of, 601 opportunistic surgical prophylaxis for biallelic carriers, outline of base excision repair and relevance to, pathology and tumor microsatellite instability status, population differences in allele frequency, 604 prophylaxis for biallelic mutation carriers, risk associated with heterozygous alleles, 602 Index 721

6 722 Index Genetics (continued) of familial adenomatous polyposis, 587 of hereditary colorectal cancer, overview, classes of genes, genetic model for carcinogenesis, historical perspective, mutator pathways in, of less common colorectal cancer predisposition syndromes, hamartomatous polyposis syndrome, hyperplastic polyposis, juvenile polyposis syndrome, Peutz-Jeghers syndrome, role of MSH6 and PMS2 in DNA mismatch repair process and carcinogenesis, Genome-wide association studies, colorectal cancer and, human genetic variation and study of complex diseases, published studies, research needs, 666 Genotype-phenotype correlations, hmsh2 and hmlh1 genes in HNPCC, H Hamartomatous polyposis syndrome, genetic testing for, Hereditary mixed polyposis syndrome, genetic testing for, 692 Hereditary nonpolyposis colorectal cancer (HNPCC), familial colorectal cancer type X and, genetic testing for, 693, 697 hmsh2 and hmlh1 genes in, biology of, 614 genotype-phenotype correlations, history, microsatellite testing and immunohistochemistry, mutation testing, 613 population variation and founder mutations, 614 variants of uncertain significance, 614 role of surgery in, for women, 712 mutation carriers who have not yet developed colorectal cancer, 711 mutation carriers with adenomas, 711 newly diagnosed, previous segmental resection, 711 with metastatic disease, 712 with microsatellite instability, 712 History, family, in genetic counseling for hereditary colorectal cancer, hmsh2 and hmlh1 genes, in HNPCC,

7 Index 723 biology of, 614 genotype-phenotype correlations, history, microsatellite testing and immunohistochemistry, mutation testing, 613 population variation and founder mutations, 614 variants of uncertain significance, 614 HNPCC. See Hereditary nonpolyposis colorectal cancer. Hyperplastic polyposis syndrome, genetic testing for, 690 Hysterectomy, prophylactic, for women with HNPCC, 712 I Ileal-pouch anal anastomosis, proctocolectomy with, in FAP, , Ileorectal anastomosis, colectomy with, in FAP, , Immunohistochemical staining, in genetic testing for hereditary colorectal cancer, how to follow up results, normal, with high microsatellite instability, 697 sensitivity and specificity, 694 unexpected results, 696 testing for hmsh2 and hmlh1 genes in HNPCC, limitations of, 617 J J-pouch, ileal-pouch anal anastomosis with proctocolectomy for FAP, , Juvenile polyposis syndrome, genetic testing for, 689 L Landscaper genes, in colorectal cancer, Legal issues, in genetic counseling for hereditary colorectal cancer, direct-to-consumer testing, disclosure of results, genetic discrimination, impact of cancer in the family, 672 motivations and deterrents for testing, 673 physician s duty to warn, prenatal screening and preimplantation genetic diagnosis, psychological impact on, testing of minors, 675 Lynch syndrome. See Hereditary nonpolyposis colorectal cancer. M Medical records, confirmation of, in genetic counseling for hereditary colorectal cancer, Metastatic disease, in HNPCC patients, surgical management of, 712 Methylation assays, for hmsh2 and hmlh1 genes in HNPCC,

8 724 Index Microsatellite instability, in colorectal cancer, 578 in genetic testing for hereditary colorectal cancer, how to follow up results, sensitivity and specificity, 694 tumors high in, with normal immunohistochemical staining results, 697 in tumors of HNPCC patients, surgical management of, 712 status of, in MUTYH-associated polyposis, 601 testing for hmsh2 and hmlh1 genes in HNPCC, limitations of, Minors, genetic testing of, 675 Mismatch repair, role of MSH6 and PMS2 in, MLH1 promoter methylation testing, for hereditary colorectal cancer, 696 Molecular diagnosis, of less common colorectal cancer predisposition syndromes, Molecular pathogenesis, of colorectal neoplasia in MUTYH-associated polyposis, 601 MSH6, role in DNA mismatch repair and carcinogenesis, Mutation carriers, surgical management of HNPCC patients who are, 711 those do not yet have colorectal cancer, 711 those with adenoma, 711 Mutation testing, for hmsh2 and hmlh1 genes in HNPCC, 613 Mutations, inherited, in MSH6 and PMS2, Mutator pathways, in colorectal cancer, MUTYH-associated polyposis, and colorectal cancer, age at onset of colorectal polyposis and cancer, 604 clinical surveillance of large bowel for biallelic carriers, extracolonic features and surveillance, 605 genetic testing for, identification of MUTYH as a susceptibility gene for, 600 in differential diagnosis for nonpolyposis colorectal cancer, 698 inherited as a recessive trait, issues for relatives of an index biallelic carrier case, molecular pathogenesis of, 601 opportunistic surgical prophylaxis for biallelic carriers, outline of base excision repair and relevance to, pathology and tumor microsatellite instability status, population differences in allele frequency, 604 prophylaxis for biallelic mutation carriers, risk associated with heterozygous alleles, 602 N Nonpolyposis syndromes, genetic testing for, 693

9 Index 725 O Oncogenes, in colorectal cancer, P Penetrance, risk of cancer in MSH6 and PMS2 mutation carriers, Peutz-Jeghers syndrome, genetic testing for, 689 Phenotype-genotype correlations, hmsh2 and hmlh1 genes in HNPCC, Physician s duty to warn, in genetic testing for hereditary colorectal cancer, PMS2, role in DNA mismatch repair and carcinogenesis, Polyposis. See also specific syndromes., familial adenomatous, MUTYH-associated, syndromes, genetic testing for, Polyps, gastroduodenal, in FAP, Preimplantation genetic diagnosis, of hereditary colorectal cancer, Prenatal screening, for hereditary colorectal cancer, Proctocolectomy, restorative, with ileal-pouch anal anastomosis for FAP, with ileal-pouch anal anastomosis in FAP, Prophylaxis, for biallelic MUTYH carriers, opportunistic surgical, in established colorectal cancer, Psychosocial issues, in genetic counseling for hereditary colorectal cancer, PTEN hamartoma tumor syndrome, genetic testing for, 690 R Records, medical, confirmation of, in genetic counseling for hereditary colorectal cancer, Rectal cancer, newly diagnosed in patients with HNPCC, surgical management of, Risk assessment, in genetic counseling for hereditary colorectal cancer, confirmation of medical records, family history, S Screening, prenatal, for hereditary colorectal cancer, Segmented colectomy, previous, surgical management of HNPCC patients with, 711 Surgery, colorectal, in FAP, colectomy with ileorectal anastomosis, factors influencing choice and timing of, proctocolectomy with ileal-pouch anal anastomosis, opportunistic prophylactic, for biallelic MUTYH carriers, role in FAP, restorative proctocolectomy and ilea-pouch anal anastomosis, 708 surveillance and timing of, 709

10 726 Index Surgery (continued) total abdominal colectomy and ileorectal anastomosis, role in HNPCC, for women, 712 mutation carriers with adenomas, 711 newly diagnosed, previous segmental resection, 711 with metastatic disease, 712 with microsatellite instability, 712 Surveillance, for FAP in at-risk of family members, 709 of large bowel for biallelic MUTYH carriers, extracolonic features and, 605 T Testing. See Genetic testing. Total abdominal colectomy, with ileorectal anastomosis for FAP, Tumor suppressor genes, in colorectal cancer, W Women, with HNPCC, surgical options for, 712

Familial and Hereditary Colon Cancer

Familial and Hereditary Colon Cancer Aasma Shaukat, MD, MPH, FACG, FASGE, FACP GI Section Chief, Minneapolis VAMC Associate Professor, Division of Gastroenterology, Department of Medicine, University of