Index. F Falco, G.D., 159 Familial adenomatous polyposis (FAP), 60, 151, 168, 174 Familial diffuse gastric cancer (FDGC), 143

Transcription

1 A Adherens junction, 28, 30, 31, 58, 60, 64, 82 Adhesion, 28 32, 36, 57, 58, 60, 62, 64, 80 82, 130, 150 Aggregation, 4, 15, 41, 116, 117, 143, 160, 185, 186, 198 Allelic imbalance (AI), Amino acid, 78, 80 Anamnesis, 20, 189 Anastomosis, 171, 173, 174 Archive, 21 B Bacani, J.T., 41, 43 Bakir, T., 13 Barber, M.E., 39 Becker, K.F., 79 Bernini, M., 13 Berx, G., 28 Birch, J.M., 179 Blood donor, 20, 23 Bonaparte, N., 4, 6 8 Brooks-Wilson, A.R., 37 41, C Caldas, C., 80 Cancer database, 19 23, 179 Cancer risk, 14 15, 180, 188 Cancer stem cell (CSC), 66, 67 Carneiro, F., 141 Caron, O., 39 Carvalho, J., 35, 87, 111 Catenin, 29 31, 66, CDH1, 6, 12 15, 28, 29, 31 32, 36 38, 41 44, 52 68, 78 83, 87 94, , 116, 118, , , , 152, , , 185, 188, 189. See also E-cadherin Cell adhesion, 28 32, 36, 57, 58, 64, 80, 82, 130, 150 Chemical chaperones, 83 Chinese hamster ovary (CHO), 80, 81 Chromosomal instability (CIN), 117 Chromosome 16, 36 Chung, D.C., 135 CIN. See Chromosomal instability (CIN) Cleft palate (CL/P), 42, 44 Clinical management, 88, 130, 136, , 153, Cluster, 4 6, 9, 13, 15, 29, 36, 37, 41, 44, 53, 54, 63, 90, 92, 101, 102, 113, , , 144, , 194 Codon, 37, 78 Comparative genomic hybridization (CGH), 89 Complication, Control, 15, 20, 21, 23, 30, 31, 58, 65, 80, 83, 113, 114, 148, 171, 173 Corso, G., 4, 11, 19, 43, 111, 167, 177, 183, 191 Criteria, 15, 37, 88, 90 92, , 136, , 145, 151, , 171, 178, 179, 189, 191, CSC. See Cancer stem cell (CSC) Cytoplasmic, 29, 43, 79, 82 G. Corso and F. Roviello (eds.), Spotlight on Familial and Hereditary Gastric Cancer, DOI / , Springer Science+Business Media Dordrecht

2 208 Index D Database, 19 23, 179 De Falco, G., 159 Degree, 14, 20, 80, 83, 143, 151, 153, 161, 169, 200, 201 Deletion, 36, 37, 42, 88 90, 92, 93, 104, 116, 147, 153, 160 Diffuse gastric cancer (DGC), 36, 37, 42 44, 52, 56, 57, 63 68, 79, 88, 92, 106, 142, 143, 145, 147, 148, 161, 200 DNA methyltransferase (DNMT), 113, 115, 148 Dussaulx-Garin, L., 39, 133 E Early onset diffuse gastric cancer (EODGC), 37, 42 44, 79 Early onset gastric cancer (EOGC), 42, 188 Eastern, 4, 12, 89, 187 E-cadherin, 6, 13, 27 32, 35 44, 53 55, 57 68, 78 83, 88, 92, 116, 130, 142, , 149, 150, 160, 170, 178, 192, 193. See also CDH1 mutation, 31, 36 44, 82 trafficking, 58, 79, 83 EGFR signalling. See Epidermal growth factor receptor (EGFR) signalling EMT. See Epithelial-mesenchymal transition (EMT) Endoplasmic reticulum associated degradation (ERAD), 82, 83 Endoscopy, 143, 150, 151, 153, 161, 162, 187, 188 EODGC. See Early onset diffuse gastric cancer (EODGC) EOGC. See Early onset gastric cancer (EOGC) Epidermal growth factor receptor (EGFR) signalling, 31, 81, 82 Epigenetics, 57, Epithelia, 28, 29, 58, 59, 62, 63, 66 Epithelial-mesenchymal transition (EMT), 31, 52, 56, 63 67, 149 Eto, K., 13 Extracellular, 29, 31, 42, 43, 58, 60, 79, 80, 82, 83, 113, 116, 149, 150 F Falco, G.D., 159 Familial adenomatous polyposis (FAP), 60, 151, 168, 174 Familial diffuse gastric cancer (FDGC), 143 Familial gastric cancer (FGC), 3 9, 11 15, 91, , 143, , Familial intestinal gastric cancer (FIGC), 15, 143, , 195, 196 Family history, 7, 9, 12, 14, 15, 19, 20, 37, 117, 132, 136, 143, 161, 184, 185, 188, 200 FAP. See Familial adenomatous polyposis (FAP) FDGC. See Familial diffuse gastric cancer (FDGC) Ferrara, F., 167 FGC. See Familial gastric cancer (FGC) FGP. See Fundic gland polyposis (FGP) FIGC. See Familial intestinal gastric cancer (FIGC) Figueiredo, J., 77 Fitzgerald, R.C., 79 Food consumption, 14, 20, 185, 186 Foschi, R., 13 Frameshift, 6, 37, 44, 131, Fraumeni, J.F., 179 Frebourg, T., 40, 41 Frequency, 4, 11 15, 37, 41, 54, 56, 61, 63, 65, 80, 90, 94, 117, 118, 147, 179, 185, 188 Fundic gland polyposis (FGP), 151, 152 G Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS), Gayther, S.A., 39, 40, 133 Generation, 4, 15, 20, 90, , 161, 185, 189, 197, 198, 201 Genetic counseling, 78, 80, 81, 136, 161, 179, Genetics, 4, 7, 9, 12 15, 41, 42, 44, 53, 54, 56, 67, 78, 80, 81, 88, 90, 92, , 104, 105, 107, 108, 112, , 132, 136, 142, 143, 145, 148, 150, , , 168, 169, 174, 178, 179, , 188, 189 Genetic screening, 13 15, 186 Geographic, 12 15, 37, 92, 184 Germline level, 79 Germline mutations, 6, 7, 12 15, 32, 35 44, 53, 54, 56, 60, 66, 78, 79, 88, 92, 106, 116, 117, , 142, 143, 147, 148, 160, , 178, 179, 184, 185, 188, 192, 193, 202 Ghaffari, S.R., 40 Graziano, F., 27 Guilford, P.J., 6, 38 41, 51, 133, 134, 142

3 209 H Han, M.A., 13 Hansford, S., 97 HAT. See Histone acethyltransferase (HAT) HDACi. See Histone deacetylase inhibitor (HDACi) HDGC. See Hereditary diffuse gastric cancer (HDGC) Helicobacter pylori (H. pylori ), 7, 14, 15, 41, 57, 117, 146, 160, 186 Hemminki, K., 13 Hereditary cancer, 9, 98, 99, 105, 107, 179, 184, 185 Hereditary diffuse gastric cancer (HDGC), 14, 15, 37 44, 51 68, 77 83, 87 94, , 116, , , , 168, 169, 171, 173, 174, 178, 179, , 189 guidelines, 161 Hereditary disorders, Hereditary gastric cancer, Hereditary non-polyposis colorectal cancer (HNPCC), 90, 117, 118, 178, 179, 184 Hereditary syndrome, 116, 178 High and low incidences, 12, 13, 89 Histone acethyltransferase (HAT), 115 Histone deacetylase inhibitor (HDACi), 56, 57 Histone deacetylases (HDAC), 148 HNPCC. See Hereditary non-polyposis colorectal cancer (HNPCC) Homeostasis, 30 Humar, B., 38 40, 51, 148, 149 Huntsman, D., 97 I IGC. See Intestinal gastric cancer (IGC) IGCLC. See International gastric cancer linkage consortium (IGCLC) Insertion, 88, 90, 104 In silico model, International gastric cancer linkage consortium (IGCLC), 37, 81, 88, 90 92, 136, 142, 143, 161, 170, 171, 184, 185, 191, 197, 200, 201 Interview, 19, 187 Intestinal gastric cancer (IGC), 36, 65, 143, 197, 198 Invasion, 28, 31, 32, 36, 61, 63, 80, 82, 115, 163, 171 Investigation, 9, 170, 184 In vitro assay, 80, 81, 83, 161 J Japanese, 13, 89, 90, 151, 174, 186 Jeghers, H., 179 Jiang, Y., 40 John XXII, 4, 8 9, 201 Jones, G.H., 4, 5 Jonsson, B.A., 40 Juxtamembrane, 29, 80, 83 K Kaurah, P., 38 41, 43, 134, 135 Kawasaki, K., 13 Keller, G., 38, 41, 129, 133, 134 Kindred, 4, 6, 142, 161, 191, 193, 198 Kluijt, I., 38 41, 134, 186 Kober, 4 L Laparoscopic, Large deletions and allelic imbalance, 36, 91 93, 160 Lauren, P., 130 La Vecchia, C., 13 LBC. See Lobular breast cancer/carcinoma (LBC) LCIS. See Lobular carcinoma in situ (LCIS) Lee, W.J., 13 Leite, M., 13, 111 Lewis, F.R., 147 LF. See Li-Fraumeni (LF) Li, F.P., 179 Li-Fraumeni (LF), 178, 179, 184, 188 Living status, 4, 20 Lobular breast cancer/carcinoma (LBC), 37, 42 44, 53, 64, 79, 89, , 143, 161, 162, 194, 200, 204 Lobular carcinoma in situ (LCIS), 53, 64, 131, 136 Loss of heterozygosity (LOH), 37, 56, 99, 105, 131, 147, 148, 160 Lugli, A., 7 Lynch, H.T., 40, 134, 135 M Macklin, M.T., 4 Maeda, K., 65 Maimon, S.N., 4 Malignant transformation, 31, 171 Māori, 4 6, 98, 142, 144, 160 MAP. See MYH-associated polyposis (MAP)

4 210 Index MAPK. See Mitogen-activated protein kinase (MAPK) Marrelli, D., 11, 19, 183 Masciari, S., 41, 134 Mastectomy, 136 Mateus, A.R., 41 Matrix metalloproteases (MMP), 60 Matsukuma, K.E., 40 Mayrbaeurl, B., 38 Methylation, 56, 88, 90 91, 93, , 117, 118, 131 microrna (mirna), 37, 65, 113, , 118, 119 Microsatellite instability (MSI), 14, 117, 118, 178, 179, 185 Mismatch repair (MMR), 117, 118, 178, 179, 185, 187 Missense mutation, 37, 42, 65, 78 83, 131, 132, 149, 160, 185, 192 Mitogen-activated protein kinase (MAPK), 82 Mitotic spindle, 58, 60 MMP. See Matrix metalloproteases (MMP) MMR. See Mismatch repair (MMR) Molecules, 28, 31, 65, 67, 78, 81, 82, 101, 150 Monoallelic, 88, More, H., 38, 40, 133, 134 Moren, 40 MSI. See Microsatellite instability (MSI) Multifocal, 53 54, 61, 136, 148, 168, 188 Multiplex ligation-dependent probe amplification (MLPA), 89, 90, 161 Munoz, S.E., 13 MYH-associated polyposis (MAP), 151 N NAHR. See Non-allelic homologous recombination (NAHR) Neutral variant, 78 New Zealand, 4 6, 12, 79, 130, 143, 144, 160 Next generation sequencing (NGS), NHEJ. See Non-homologous end joining (NHEJ) Non-allelic homologous recombination (NAHR), 90 Non-homologous end joining (NHEJ), 90 Nonsense, 37, 44, 131, Notch, 65, 67, 83 O Ogawa, H., 13 Oliveira, C., 35, 38 40, 87, 111, 148 Oliveira, M.J., 133, 134 Ottini, L., 13 P p120, 31, 81 Pagetoid, 145, 146, 162 Palli, D., 13, 185 Pathogenic variant, 78 Pathology, 7, 52, 100, , , 163, 170 Paulsen, 4 PCR. See Polymerase chain reaction (PCR) Pedigree, 4 9, 15, 20, 22, 80, 98, 132, 161, 170, 185, 188, , 197, , 204 Peutz-Jeghers syndrome (PJS), 151, , 184, 188 Peutz, J.L.A., 179 Pharoah, P., 134 Phosphatidylinositol phosphate kinase (PIPKI), 81, 83 Pinheiro, H., 35, 87 PIPKI. See Phosphatidylinositol phosphate kinase (PIPKI) PJS. See Peutz-Jeghers syndrome (PJS) Polymerase chain reaction (PCR), 89, 99, Pope John XXIII, 8 9 Population frequency, 13, 15, 67, 80 Post-translational modification (PTM), Proband, 15, 20 22, 42, 44, 89 93, 131, 132, 150, 161, 185, 186, 194, 197, 203, 204 Prognosis, 14, 136, 149, 162, 168, 174 Promoter, 36, 43, 56, 57, 62, 88, 90 93, , 131, 147, 148, 160, 185 Prophylactic total gastrectomy, 150, PTM. See Post-translational modification (PTM) R Ras HOmolog gene family member A (RHOA), 31, 82, 150 Rearrangement, 88, 89, 105, 107, 116, 118, 133 Receptor tyrosine kinases (RTKs), 31, 150 Recombination, 90, 114 Relative, 14, 15, 19 21, 58, 64, 66, 106, 113, 143, , 161, 169, 188, 189, 194, 200, 201

5 211 RHOA. See Ras HOmolog gene family member A (RHOA) Richards, F.M., 39, 40 Risk area, Rodriguez-Sanjuan, J.C., 39 Rogers, W.M., 39, 40 Roux-en-Y, , 185 Roviello, F., 13, 19, 38, 111, 167, 183 S Safaee, A., 13 Salahshor, S., 43 Schrader, K.A., 41, 43, Screening, 13 15, 37, 68, 88, 93, 105, 107, 108, 136, 142, 143, 161, 162, , 202 Segregation, 43, 60, 80 Seruca, R., 77, 111 Shah, M.A., 41 Shinmura, K., 43 SIFT. See Sort intolerant from tolerant (SIFT) Signaling pathway, 29 31, 79 Signet ring cell carcinoma (SRCC), 53 58, 61 64, 67, 68, 145, 147, 168, 169 Simoes-Correia, J., 38, 43 Single nucleotide variant (SNV), 104 Sokoloff, B., 6 Sort intolerant from tolerant (SIFT), 80 Sousa, S., 111 Splicing, 42, 80, Sporadic, 7, 8, 12, 36, 41, 44, 52, 56, 60, 64 68, 79, 88, 114, , 130, 143, 148, 160, 184, 188, 194, 200 Sporadic and familial cancer, 7, 8, 12, 36, 41, 44, 52, 56, 60, 64 68, 79, 88, 114, , 130, 143, 148, 160, 184, 188, 194, 200 SRCC. See Signet ring cell carcinoma (SRCC) Stomach, 4, 8, 12, 15, 42, 53, 54, 61, 63, 66 68, 119, 143, 144, 147, 148, 151, 152, 169, 170, 174 Surgery, 52, 150, 153, 162, , 173, 174, 185, 187 Suriano, G., 38 41, 43, 79, 133, 135 Survival, 14, 30, 31, 67, 83, 116, 118, 149, 174, 189 T Takaishi, S., 67 Takeshima, H., 56 Targeted amplicon sequencing (TAS), 103, TP53, 13, 63, 179, 188, 202 Traffiking, 79, Truncating, 37, 42, 44, 78, 99, 132, 161, 170, 185 Truncating mutation, 42, 78, 99, 132, 161, 170 TSG. See Tumour suppressor gene (TSG) Tumor staging, 7, 9 Tumour initiation, Tumour suppressor gene (TSG), 54, 60, 106, 114, 119 Tuscany, 12, 185, 191 U Untranslated region (UTR), 37, 43, 89, 115 V Valproic acid (VPA), 57 Vansen, H.F., 179 Van Verschuer, 4 Vecsey-Semjen, B., 135 Velho, S., 177 Videtta, A.D., 159 VPA. See Valproic acid (VPA) W Wang, Y., 43 WGS. See Whole genome sequencing (WGS) WHO. See World health organization (WHO) Whole genome sequencing (WGS), 100, Wilcox, R., 38 World health organization (WHO), 130 X Xie, Z.M., 41, 133, 134 Y Yabuta, T., 38 Yamada, N.A., 87 Yatsuya, H., 13 Yoon, K.A., 43 Z Zanghieri, G., 13 Zhang, Y., 38 Zinninger, M.M., 4