The Natural History of Hereditary Colorectal Cancer Syndromes: From Phenotype to Genotype? Where Do We Stand and What Does the Future Hold?

被引:0
作者
Church, James [1 ,2 ]
机构
[1] Columbia Univ, Div Colorectal Surg, Dept Surg, Med Ctr, New York, NY USA
[2] Columbia Univ, Div Colorectal Surg, Dept Surg, Med Ctr, Herbert Irving Pavil,161 Ft Washington Ave,8th Flo, New York, NY 10032 USA
关键词
hereditary colorectal cancer; molecular genetics of colorectal cancer; GERMLINE MUTATIONS; SERRATED POLYPOSIS; GENE; COLON; DNA; IDENTIFICATION; DISEASE; RECTUM;
D O I
10.1055/s-0043-1770380
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
Applying the concept of a "natural history" to hereditary colorectal cancer is an interesting exercise because the way the syndromes are approached has changed so drastically. However, the exercise is instructive as it forces us to think in depth about where we are, where we have been, and, most helpfully, about where we may be going. In this article the diagnosis, along with endoscopic and surgical management of hereditary colorectal cancer are discussed in the context of their history and the changes in genomics and technology that have occurred over the last one hundred years.
引用
收藏
页码:127 / 132
页数:6
相关论文
共 65 条
[41]   Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer [J].
Miyaki, M ;
Konishi, M ;
Tanaka, K ;
KikuchiYanoshita, R ;
Muraoka, M ;
Yasuno, M ;
Igari, T ;
Koike, M ;
Chiba, M ;
Mori, T .
NATURE GENETICS, 1997, 17 (03) :271-272
[42]   DNA Methylation and Its Basic Function [J].
Moore, Lisa D. ;
Le, Thuc ;
Fan, Guoping .
NEUROPSYCHOPHARMACOLOGY, 2013, 38 (01) :23-38
[43]   Risk of Colorectal Cancer in Serrated Polyposis Syndrome: A Systematic Review and Meta-analysis [J].
Muller, Charles ;
Yamada, Akihiro ;
Ikegami, Sachie ;
Haider, Haider ;
Komaki, Yuga ;
Komaki, Fukiko ;
Micic, Dejan ;
Sakuraba, Atsushi .
CLINICAL GASTROENTEROLOGY AND HEPATOLOGY, 2022, 20 (03) :622-+
[44]   THE UNUSUAL ORIGIN OF THE POLYMERASE CHAIN-REACTION [J].
MULLIS, KB .
SCIENTIFIC AMERICAN, 1990, 262 (04) :56-&
[45]   Origins of the Leeds Castle Polyposis Group [J].
Kay Neale ;
Steffen Bulow .
Familial Cancer, 2003, 2 (Suppl 1) :1-2
[46]   MUTATIONS OF 2 PMS HOMOLOGS IN HEREDITARY NONPOLYPOSIS COLON-CANCER [J].
NICOLAIDES, NC ;
PAPADOPOULOS, N ;
LIU, B ;
WEI, YF ;
CARTER, KC ;
RUBEN, SM ;
ROSEN, CA ;
HASELTINE, WA ;
FLEISCHMANN, RD ;
FRASER, CM ;
ADAMS, MD ;
VENTER, JC ;
DUNLOP, MG ;
HAMILTON, SR ;
PETERSEN, GM ;
DELACHAPELLE, A ;
VOGELSTEIN, B ;
KINZLER, KW .
NATURE, 1994, 371 (6492) :75-80
[47]   DEPENDENCE OF CELL-FREE PROTEIN SYNTHESIS IN E COLI UPON NATURALLY OCCURRING OR SYNTHETIC POLYRIBONUCLEOTIDES [J].
NIRENBERG, M ;
MATTHAEI, JH .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1961, 47 (10) :1588-&
[48]   Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas [J].
Palles, Claire ;
Cazier, Jean-Baptiste ;
Howarth, Kimberley M. ;
Domingo, Enric ;
Jones, Angela M. ;
Broderick, Peter ;
Kemp, Zoe ;
Spain, Sarah L. ;
Almeida, Estrella Guarino ;
Salguero, Israel ;
Sherborne, Amy ;
Chubb, Daniel ;
Carvajal-Carmona, Luis G. ;
Ma, Yusanne ;
Kaur, Kulvinder ;
Dobbins, Sara ;
Barclay, Ella ;
Gorman, Maggie ;
Martin, Lynn ;
Kovac, Michal B. ;
Humphray, Sean ;
Lucassen, Anneke ;
Holmes, Christopher C. ;
Bentley, David ;
Donnelly, Peter ;
Taylor, Jenny ;
Petridis, Christos ;
Roylance, Rebecca ;
Sawyer, Elinor J. ;
Kerr, David J. ;
Clark, Susan ;
Grimes, Jonathan ;
Kearsey, Stephen E. ;
Thomas, Huw J. W. ;
McVean, Gilean ;
Houlston, Richard S. ;
Tomlinson, Ian .
NATURE GENETICS, 2013, 45 (02) :136-144
[49]   Genetic counselling in the era of genomic medicine [J].
Patch, Christine ;
Middleton, Anna .
BRITISH MEDICAL BULLETIN, 2018, 126 (01) :27-36
[50]   Early age onset colorectal cancer [J].
Patel, Swati G. ;
Murphy, Caitlin C. ;
Lieu, Christopher H. ;
Hampel, Heather .
NOVEL APPROACHES TO COLORECTAL CANCER, 2021, 151 :1-37