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, 591 593, 708 709 Anastomosis, ileal-pouch anal, proctocolectomy with, in FAP, 591 593, 708 709 ileorectal, colectomy with, in FAP, 589 591, 706 707 Attenuated familial adenomatous polyposis syndrome, genetic testing for, 691 B Base excision repair, in MUTYH-associated polyposis and colorectal cancer, 600 601 BRAF testing, for hereditary colorectal cancer, 696 C Carcinogenesis, of colorectal cancer, genetic model for, 575 576 Caretaker genes, in colorectal cancer, 577 578 Chromosomal instability, in colorectal cancer, 578 579 Classification, of colorectal cancer genes, 576 578 gatekeepers, caretakers, and landscapers, 577 578 oncogenes and tumor suppressor genes, 576 577 Colectomy, previous segmented, surgical management of HNPCC patients with, 711 total abdominal, with ileorectal anastomosis for FAP, 707 708 with ileorectal anastomosis in FAP, 589 591 Colon cancer, newly diagnosed in patients with HNPCC, surgical management of, 710 711 Colorectal cancer, genetics of, 573 715 familial adenomatous polyposis (FAP), 585 598 colorectal surgery, 589 594 desmoid disease, 595 596 extracolonic manifestations, 588 gastroduodenal polyps, 594 595 genetic testing, 587 genetics, 587 history, 585 586 incidence and epidemiology, 586 presentation, 588 workup, 589 familial type X, 637 645 genetic counseling for, 669 685 definition of genetic counselor, 669 pretest session, 670 681 process of, 669 670 genetic testing for, 687 703 Surg Oncol Clin N Am 18 (2009) 717 726 doi:10.1016/s1055-3207(09)00070-2 surgonc.theclinics.com 1055-3207/09/$ see front matter ª 2009 Elsevier Inc. All rights reserved.
718 Index Colorectal (continued) adenomatous polyposis syndromes, 690 692 attenuated FAP, 692 FAP, 692 familial colorectal cancer syndrome type X, 697 698 hamartomatous polyposis syndromes, 689 690 hereditary mixed polyposis syndrome, 692 immunohistochemical staining, 693 696 in family members, 698 699 Lynch syndrome, 697 microsatellite instability, 693 696 MLH1 promoter methylation and BRAF testing on tumor DNA, 696 MUTYH-associated polyposis, 692 nonpolyposis syndromes, 693 polyposis syndromes, 688 689 unexpected results, 696 genome-wide association studies and, 663 668 human genetic variation and study of complex diseases, 663 664 published studies, 664 666 research needs, 666 hmsh2 and hmlh1 genes in hereditary nonpolyposis, 611 624 biology of, 614 genotype-phenotype correlations, 618 819 history, 612 613 microsatellite testing and immunohistochemistry, 615 618 mutation testing, 613 population variation and founder mutations, 614 variants of uncertain significance, 614 less common predisposition syndromes, 647 661 hamartomatous polyposis syndrome, 650 651 hyperplastic polyposis, 648 650 juvenile polyposis syndrome, 651 652 Peutz-Jeghers syndrome, 652 655 MSH6 and PMS2 in, 625 636 MUTYH-associated polyposis and, 599 610 age at onset of colorectal polyposis and cancer, 604 clinical surveillance of large bowel for biallelic carriers, 604 605 extracolonic features and surveillance, 605 identification of MUTYH as a susceptibility gene for, 600 inherited as a recessive trait, 601 602 issues for relatives of an index biallelic carrier case, 602 603 molecular pathogenesis of, 601 opportunisitc surgical prophylaxis for biallelic carriers, 605 606 outline of base excision repair and relevance to, 600 601 pathology and tumor microsatellite instability status, 603 604 population differences in allele frequency, 604
Index 719 prophylaxis for biallelic mutation carriers, 606 607 risk associated with heterozygous alleles, 602 overview, 573 583 classes of genes, 576 578 genetic model for carcinogenesis, 575 576 historical perspective, 573 575 mutator pathways in, 578 579 surgery for, 705 715 familial adenomatous polyposis, 705 709 hereditary nonpolyposis colorectal cancer, 709 712 Counseling, genetic, for hereditary colorectal cancer, 669 685 definition of genetic counselor, 669 educational component, 672 legal, ethical, and psychosocial issues, 672 681 direct-to-consumer testing, 680 681 disclosure of results, 676 678 genetic discrimination, 673 674 impact of cancer in the family, 672 motivations and deterrents for testing, 673 physician s duty to warn, 678 680 prenatal screening and preimplantation genetic diagnosis, 675 676 psychologicl impact on, 674 675 testing of minors, 675 pretest session, 670 681 process of, 669 670 risk assessment, 670 672 CpG island methylation, in colorectal cancer, 579 D Desmoid disease, in FAP, 595 596 Direct-to-consumer testing, genetic, for hereditary colorectal cancer, 680 681 Disclosure, of results, of genetic testing for hereditary colorectal cancer, 676 678 Discrimination, genetic, due to genetic testing, 673 674 DNA mismatch repair, role of MSH6 and PMS2 in, 625 636 Duty to warn, physician s, in genetic testing for hereditary colorectal cancer, 678 680 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, 663 668 of FAP, 586 Ethical issues, in genetic counseling for hereditary colorectal cancer, 672 681 direct-to-consumer testing, 680 681 disclosure of results, 676 678 genetic discrimination, 673 674
720 Index Ethical (continued) impact of cancer in the family, 672 motivations and deterrents for testing, 673 physician s duty to warn, 678 680 prenatal screening and preimplantation genetic diagnosis, 675 676 psychological impact on, 674 675 testing of minors, 675 F Familial adenomatous polyposis (FAP), 585 598 colorectal surgery, 589 594 colectomy with ileorectal anastomosis, 589 591 factors influencing choice and timing of, 593 594 proctocolectomy with ileal-pouch anal anastomosis, 591 593 desmoid disease, 595 596 extracolonic manifestations, 588 gastroduodenal polyps, 594 595 genetic testing, 587, 690 691 for attenuated FAP, 691 genetics, 587 history, 585 586 incidence and epidemiology, 586 presentation, 588 role of surgery in, 705 709 restorative proctocolectomy and ilea-pouch anal anastomosis, 708 surveillance and timing of, 709 total abdominal colectomy and ileorectal anastomosis, 707 708 workup, 589 Familial colorectal cancer type X, genetic testing for, 697 698 HNPCC and, 637 645 Family history, in genetic counseling for hereditary colorectal cancer, 670 671 FAP. See Familial adenomatous polyposis. Founder mutations, of hmsh2 and hmlh1 genes in HNPCC, 614 G Gastroduodenal polyps, in FAP, 594 595 Gatekeeper genes, in colorectal cancer, 577 578 Genetic counseling, for hereditary colorectal cancer, 669 685 definition of genetic counselor, 669 educational component, 672 legal, ethical, and psychosocial issues, 672 681 direct-to-consumer testing, 680 681 disclosure of results, 676 678 genetic discrimination, 673 674 impact of cancer in the family, 672 motivations and deterrents for testing, 673 physician s duty to warn, 678 680 prenatal screening and preimplantation genetic diagnosis, 675 676
psychological impact on, 674 675 testing of minors, 675 pretest session, 670 681 process of, 669 670 risk assessment, 670 672 Genetic testing, direct-to-consumer, legal and ethical issues, 680 681 for hereditary colorectal cancer, 687 703 adenomatous polyposis syndromes, 690 692 attenuated FAP, 692 familial colorectal cancer syndrome type X, 697 698 FAP, 587, 692 hamartomatous polyposis syndromes, 689 690 hereditary mixed polyposis syndrome, 692 immunohistochemical staining, 693 696 in family members, 698 699 Lynch syndrome, 697 microsatellite instability, 693 696 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, 688 689 unexpected results, 696 motivations and deterrents for, 673 Genetics, familial colorectal cancer type X, HNPCC and, 637 645 genome-wide association studies and colorectal cancer, 663 668 human genetic variation and study of complex diseases, 663 664 published studies, 664 666 research needs, 666 hmsh2 and hmlh1 genes in HNPCC, 611 624 biology of, 614 genotype-phenotype correlations, 618 819 history, 612 613 microsatellite testing and immunohistochemistry, 615 618 mutation testing, 613 population variation and founder mutations, 614 variants of uncertain significance, 614 MUTYH-associated polyposis and colorectal cancer, 599 610 age at onset of colorectal polyposis and cancer, 604 clinical surveillance of large bowel for biallelic carriers, 604 605 extracolonic features and surveillance, 605 identification of MUTYH as a susceptibility gene for, 600 inherited as a recessive trait, 601 602 issues for relatives of an index biallelic carrier case, 602 603 molecular pathogenesis of, 601 opportunistic surgical prophylaxis for biallelic carriers, 605 606 outline of base excision repair and relevance to, 600 601 pathology and tumor microsatellite instability status, 603 604 population differences in allele frequency, 604 prophylaxis for biallelic mutation carriers, 606 607 risk associated with heterozygous alleles, 602 Index 721
722 Index Genetics (continued) of familial adenomatous polyposis, 587 of hereditary colorectal cancer, 573 715 overview, 573 583 classes of genes, 576 578 genetic model for carcinogenesis, 575 576 historical perspective, 573 575 mutator pathways in, 578 579 of less common colorectal cancer predisposition syndromes, 647 661 hamartomatous polyposis syndrome, 650 651 hyperplastic polyposis, 648 650 juvenile polyposis syndrome, 651 652 Peutz-Jeghers syndrome, 652 655 role of MSH6 and PMS2 in DNA mismatch repair process and carcinogenesis, 625 636 Genome-wide association studies, colorectal cancer and, 663 668 human genetic variation and study of complex diseases, 663 664 published studies, 664 666 research needs, 666 Genotype-phenotype correlations, hmsh2 and hmlh1 genes in HNPCC, 618 619 H Hamartomatous polyposis syndrome, 650 651 genetic testing for, 689 690 Hereditary mixed polyposis syndrome, genetic testing for, 692 Hereditary nonpolyposis colorectal cancer (HNPCC), familial colorectal cancer type X and, 637 645 genetic testing for, 693, 697 hmsh2 and hmlh1 genes in, 611 624 biology of, 614 genotype-phenotype correlations, 618 819 history, 612 613 microsatellite testing and immunohistochemistry, 615 618 mutation testing, 613 population variation and founder mutations, 614 variants of uncertain significance, 614 role of surgery in, 709 712 for women, 712 mutation carriers who have not yet developed colorectal cancer, 711 mutation carriers with adenomas, 711 newly diagnosed, 710 711 previous segmental resection, 711 with metastatic disease, 712 with microsatellite instability, 712 History, family, in genetic counseling for hereditary colorectal cancer, 670 671 hmsh2 and hmlh1 genes, in HNPCC, 611 624
Index 723 biology of, 614 genotype-phenotype correlations, 618 819 history, 612 613 microsatellite testing and immunohistochemistry, 615 618 mutation testing, 613 population variation and founder mutations, 614 variants of uncertain significance, 614 HNPCC. See Hereditary nonpolyposis colorectal cancer. Hyperplastic polyposis syndrome, 648 650 genetic testing for, 690 Hysterectomy, prophylactic, for women with HNPCC, 712 I Ileal-pouch anal anastomosis, proctocolectomy with, in FAP, 591 593, 707 708 Ileorectal anastomosis, colectomy with, in FAP, 589 591, 706 707 Immunohistochemical staining, in genetic testing for hereditary colorectal cancer, 693 697 how to follow up results, 694 696 normal, with high microsatellite instability, 697 sensitivity and specificity, 694 unexpected results, 696 testing for hmsh2 and hmlh1 genes in HNPCC, 615 618 limitations of, 617 J J-pouch, ileal-pouch anal anastomosis with proctocolectomy for FAP, 591 593, 707 708 Juvenile polyposis syndrome, 651 652 genetic testing for, 689 L Landscaper genes, in colorectal cancer, 577 578 Legal issues, in genetic counseling for hereditary colorectal cancer, 672 681 direct-to-consumer testing, 680 681 disclosure of results, 676 678 genetic discrimination, 673 674 impact of cancer in the family, 672 motivations and deterrents for testing, 673 physician s duty to warn, 678 680 prenatal screening and preimplantation genetic diagnosis, 675 676 psychological impact on, 674 675 testing of minors, 675 Lynch syndrome. See Hereditary nonpolyposis colorectal cancer. M Medical records, confirmation of, in genetic counseling for hereditary colorectal cancer, 671 672 Metastatic disease, in HNPCC patients, surgical management of, 712 Methylation assays, for hmsh2 and hmlh1 genes in HNPCC, 617 618
724 Index Microsatellite instability, in colorectal cancer, 578 in genetic testing for hereditary colorectal cancer, 693 697 how to follow up results, 694 695 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, 615 618 limitations of, 616 617 Minors, genetic testing of, 675 Mismatch repair, role of MSH6 and PMS2 in, 625 636 MLH1 promoter methylation testing, for hereditary colorectal cancer, 696 Molecular diagnosis, of less common colorectal cancer predisposition syndromes, 647 661 Molecular pathogenesis, of colorectal neoplasia in MUTYH-associated polyposis, 601 MSH6, role in DNA mismatch repair and carcinogenesis, 625 636 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, 626 636 Mutator pathways, in colorectal cancer, 578 579 MUTYH-associated polyposis, and colorectal cancer, 599 610 age at onset of colorectal polyposis and cancer, 604 clinical surveillance of large bowel for biallelic carriers, 604 605 extracolonic features and surveillance, 605 genetic testing for, 691 692 identification of MUTYH as a susceptibility gene for, 600 in differential diagnosis for nonpolyposis colorectal cancer, 698 inherited as a recessive trait, 601 602 issues for relatives of an index biallelic carrier case, 602 603 molecular pathogenesis of, 601 opportunistic surgical prophylaxis for biallelic carriers, 605 606 outline of base excision repair and relevance to, 600 601 pathology and tumor microsatellite instability status, 603 604 population differences in allele frequency, 604 prophylaxis for biallelic mutation carriers, 606 607 risk associated with heterozygous alleles, 602 N Nonpolyposis syndromes, genetic testing for, 693
Index 725 O Oncogenes, in colorectal cancer, 576 577 P Penetrance, risk of cancer in MSH6 and PMS2 mutation carriers, 629 633 Peutz-Jeghers syndrome, 652 655 genetic testing for, 689 Phenotype-genotype correlations, hmsh2 and hmlh1 genes in HNPCC, 618 619 Physician s duty to warn, in genetic testing for hereditary colorectal cancer, 678 680 PMS2, role in DNA mismatch repair and carcinogenesis, 625 636 Polyposis. See also specific syndromes., familial adenomatous, 585 598 MUTYH-associated, 599 610 syndromes, genetic testing for, 688 692 Polyps, gastroduodenal, in FAP, 594 595 Preimplantation genetic diagnosis, of hereditary colorectal cancer, 675 676 Prenatal screening, for hereditary colorectal cancer, 675 676 Proctocolectomy, restorative, with ileal-pouch anal anastomosis for FAP, 708 709 with ileal-pouch anal anastomosis in FAP, 591 593 Prophylaxis, for biallelic MUTYH carriers, 606 607 opportunistic surgical, in established colorectal cancer, 605 606 Psychosocial issues, in genetic counseling for hereditary colorectal cancer, 672 681 PTEN hamartoma tumor syndrome, genetic testing for, 690 R Records, medical, confirmation of, in genetic counseling for hereditary colorectal cancer, 671 672 Rectal cancer, newly diagnosed in patients with HNPCC, surgical management of, 710 711 Risk assessment, in genetic counseling for hereditary colorectal cancer, 670 672 confirmation of medical records, 671 672 family history, 670 671 S Screening, prenatal, for hereditary colorectal cancer, 675 676 Segmented colectomy, previous, surgical management of HNPCC patients with, 711 Surgery, colorectal, in FAP, 589 594 colectomy with ileorectal anastomosis, 589 591 factors influencing choice and timing of, 593 594 proctocolectomy with ileal-pouch anal anastomosis, 591 593 opportunistic prophylactic, for biallelic MUTYH carriers, 605 606 role in FAP, 705 709 restorative proctocolectomy and ilea-pouch anal anastomosis, 708 surveillance and timing of, 709
726 Index Surgery (continued) total abdominal colectomy and ileorectal anastomosis, 707 708 role in HNPCC, 709 712 for women, 712 mutation carriers with adenomas, 711 newly diagnosed, 710 711 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, 604 605 extracolonic features and, 605 T Testing. See Genetic testing. Total abdominal colectomy, with ileorectal anastomosis for FAP, 707 708 Tumor suppressor genes, in colorectal cancer, 576 577 W Women, with HNPCC, surgical options for, 712