Online citations, reference lists, and bibliographies.
Please confirm you are human
(Sign Up for free to never see this)
← Back to Search

Cancer Characteristics In Swedish Families Fulfilling Criteria For Hereditary Nonpolyposis Colorectal Cancer.

J. Bermejo, C. Eng, K. Hemminki
Published 2005 · Medicine

Save to my Library
Download PDF
Analyze on Scholarcy
Share
BACKGROUND & AIMS The present study quantified the prevalence of families that fulfill the Amsterdam or Bethesda criteria for hereditary nonpolyposis colorectal cancer (HNPCC) in the whole Swedish population and investigated the extent to which tumors in the classified families are HNPCC-related. METHODS The families of the Swedish Family-Cancer Database with at least 4 generations (N = 566,877) were classified according to the Amsterdam and the Bethesda criteria. Survival methods were used to assess the risk of cancer in the classified families, the prognosis of cancer patients, and the risk of subsequent malignancies after colorectal adenomas and after colorectal/endometrial adenocarcinomas. RESULTS The Bethesda criteria identified 0.9% of all Swedish families and 11.2% of patients with colorectal cancer. Families that fulfilled the Bethesda criteria showed increased risks of cancer in the colorectum, endometrium, small bowel, ovary, stomach, bile ducts, renal pelvis, and ureter; members of Bethesda criteria families were at decreased risks of lung and cervical cancers. The prognosis of cancer in the ureter, renal pelvis, stomach, ovary, and colorectum, but not in the endometrium, was better in Bethesda criteria than in nonclassified families. CONCLUSIONS Most malignancies in the classified families reflect typical features of HNPCC (association with subsequent malignancies, accelerated adenoma-carcinoma sequence, and better survival). The data presented in this study should help to define surveillance strategies for members of families that fulfill the criteria for HNPCC testing.
This paper references
10.1136/jmg.36.11.801
Genetic susceptibility to non-polyposis colorectal cancer
H. Lynch (1999)
10.1038/nrc1278
Testing guidelines for hereditary non-polyposis colorectal cancer
A. Umar (2004)
10.1053/GAST.2001.25581
AGA technical review on hereditary colorectal cancer and genetic testing.
F. Giardiello (2001)
10.1186/1897-4287-3-1-7
The Swedish Family-Cancer Database: Update, Application to Colorectal Cancer and Clinical Relevance
K. Hemminki (2005)
10.1002/1097-0142(19930201)71:3<677::AID-CNCR2820710305>3.0.CO;2-#
Extracolonic cancer in hereditary nonpolyposis colorectal cancer
P. Watson (1993)
10.1200/JCO.2005.01.086
Systematic review of microsatellite instability and colorectal cancer prognosis.
S. Popat (2005)
Risk of gastric cancer in hereditary nonpolyposis colorectal cancer in Korea.
Y. J. Park (2000)
10.1016/0002-9343(94)90091-4
The risk of endometrial cancer in hereditary nonpolyposis colorectal cancer.
P. Watson (1994)
10.1007/BF02235755
Colorectal and extracolonic cancer variations in MLH1/MSH2 hereditary nonpolyposis colorectal cancer kindreds and the general population
K. Lin (1998)
10.1093/HMG/8.5.823
Mismatch repair gene defects contribute to the genetic basis of double primary cancers of the colorectum and endometrium.
A. Millar (1999)
10.1200/JCO.2004.11.084
Refining the Amsterdam Criteria and Bethesda Guidelines: testing algorithms for the prediction of mismatch repair mutation status in the familial cancer clinic.
L. Lipton (2004)
10.1093/JNCI/93.8.651
Re: characterization of hereditary nonpolyposis colorectal cancer families from a population-based series of cases.
K. Hemminki (2001)
10.1007/978-1-4471-0925-9_118
de la Chapelle, A.
P. Beighton (1997)
10.1002/1097-0142(19910901)68:5<1109::AID-CNCR2820680535>3.0.CO;2-S
Tumor spectrum in cancer family syndrome (hereditary nonpolyposis colorectal cancer)
J. Mecklin (1991)
10.1086/316942
Hereditary nonpolyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds.
R. Scott (2001)
10.1016/S0016-5085(99)70510-X
New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC.
H. Vasen (1999)
The Swedish Family-Cancer Database
K. Hemminki (2005)
10.1007/BF02053699
The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC)
H. Vasen (1991)
10.1002/GEPI.1370080505
Estimating effects of probands' characteristics on familial risk: I. Adjustment for censoring and correlated ages at onset
Kung-yee Liang (1991)
10.1016/0092-8674(93)90546-3
The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer
R. Fishel (1993)
10.1002/(SICI)1098-2272(1998)15:3<225::AID-GEPI2>3.0.CO;2-3
National database of familial cancer in Sweden
K. Hemminki (1998)
10.1046/j.1529-8817.2003.00111.x
Methods for testing familial aggregation of diseases in population‐based samples: application to hodgkin lymphoma in swedish registry data
R. Pfeiffer (2004)
10.1023/A:1023265919884
Does the occurrence of certain rare cancers indicate an inherited cancer susceptibility?
S. Levene (2004)
Germ-line msh6 mutations in colorectal cancer families.
R. Kolodner (1999)
10.1056/NEJM199805213382101
Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease.
L. Aaltonen (1998)
The tumor spectrum in HNPCC.
P. Watson (1994)
10.1200/JCO.2000.18.11.2193
Population-based molecular detection of hereditary nonpolyposis colorectal cancer.
R. Salovaara (2000)
10.1093/JNCI/89.23.1758
A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: meeting highlights and Bethesda guidelines.
M. Rodriguez-Bigas (1997)
10.1016/S0749-2081(97)80005-8
The genetics and natural history of hereditary colon cancer.
J. Lynch (1997)
10.1016/0092-8674(93)90330-S
Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer
F. Leach (1993)
10.1093/HMG/5.6.763
DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer.
M. Nyström-Lahti (1996)
10.1093/HMG/11.4.445
Distinct PTEN mutational spectra in hereditary non-polyposis colon cancer syndrome-related endometrial carcinomas compared to sporadic microsatellite unstable tumors.
X. Zhou (2002)
10.1126/SCIENCE.8128251
Mutation of a mutL homolog in hereditary colon cancer.
N. Papadopoulos (1994)
10.1093/JNCI/92.18.1517
Characterization of hereditary nonpolyposis colorectal cancer families from a population-based series of cases.
D. Peel (2000)
10.1053/GAST.2003.50044
Colorectal cancer screening and surveillance: clinical guidelines and rationale-Update based on new evidence.
S. Winawer (2003)
10.1126/SCIENCE.8484121
Clues to the pathogenesis of familial colorectal cancer.
L. Aaltonen (1993)
10.1155/2004/391039
Identification of HNPCC by Molecular Analysis of Colorectal and Endometrial Tumors
H. Vasen (2004)
10.1002/(SICI)1097-0215(19990412)81:2<214::AID-IJC8>3.0.CO;2-L
Cancer risk in mutation carriers of DNA‐mismatch‐repair genes
M. Aarnio (1999)
10.1080/02841860152619214
The nation-wide Swedish family-cancer database--updated structure and familial rates.
K. Hemminki (2001)
10.1016/S1040-8428(98)00047-X
Colorectal cancer screening.
R. Houlston (1999)
10.1038/371075A0
Mutations of two P/WS homologues in hereditary nonpolyposis colon cancer
N. Nicolaides (1994)
10.3748/WJG.V8.I5.837
Analysis for phenotype of HNPCC in China.
Y. Song (2002)
10.1056/NEJMRA012242
Hereditary colorectal cancer.
H. Lynch (1991)
10.3109/00365529709025102
Hereditary non-polyposis colorectal cancer: clinical features and survival. Results from the Danish HNPCC register.
T. Myrhøj (1997)
10.1093/OXFORDJOURNALS.JJCO.A023244
Prognosis of hereditary nonpolyposis colorectal cancer (HNPCC) and the role of Japanese criteria for HNPCC.
S. Fujita (1996)
10.1126/SCIENCE.8484122
Microsatellite instability in cancer of the proximal colon.
S. Thibodeau (1993)
10.1136/jmg.37.9.641
Sensitivity and specificity of clinical criteria for hereditary non-polyposis colorectal cancer associated mutations inMSH2 and MLH1
S. Syngal (2000)
10.1136/jmg.40.3.208
Cancer risk in 348 French MSH2 or MLH1 gene carriers
Y. Parc (2003)
10.1086/337944
Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant.
M. Berends (2002)
10.1038/13773
Familial endometrial cancer in female carriers of MSH6 germline mutations
J. Wijnen (1999)



This paper is referenced by
10.1634/theoncologist.2007-0242
Familial risks for cancer as the basis for evidence-based clinical referral and counseling.
K. Hemminki (2008)
10.3233/BLC-180180
Systematic Review: An Update on the Spectrum of Urological Malignancies in Lynch Syndrome
D. Huang (2018)
10.1093/annonc/mdn527
Age of onset in familial cancer.
A. Brandt (2008)
10.3109/00365599.2011.599334
Urinary tract cancer in patients with hereditary non-polyposis colorectal cancer
Peter Zachhau (2012)
10.1700/467.5514
Prognostic relevance of MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer patients
A. Russo (2009)
10.1002/9781118275436.CH28
Pathology of Renal Pelvis, Ureter, and Urethra
L. Cheng (2012)
10.1200/JCO.2009.25.9812
Decision model of segmental compared with total abdominal colectomy for colon cancer in hereditary nonpolyposis colorectal cancer.
Takafumi Maeda (2010)
10.1097/DCR.0000000000001262
Familial Associations of Colon and Rectal Cancers With Other Cancers
Hongyao Yu (2019)
10.1097/PGP.0b013e31824a1dad
Are Women With Endocervical Adenocarcinoma at Risk for Lynch Syndrome? Evaluation of 101 Cases Including Unusual Subtypes and Lower Uterine Segment Tumors
A. Mills (2012)
10.1136/jmg.2010.076992
Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers
R. S. van der Post (2010)
10.4081/cp.2012.e41
Haematuria in association with Lynch syndrome
M. Ma'ayeh (2012)
10.1016/j.ajog.2008.02.018
Gynecologic malignancies in Ashkenazi families with the MSH2 A636P founder mutation.
O. Lavie (2008)
Mismatch Repair Deficient Cancer Diagnostic Aspects in Colorectal Cancer and the Role of Urological Cancer in Lynch Syndrome
P. Joost (2015)
10.1002/ijc.29641
Lynch syndrome and cervical cancer
Y. Antill (2015)
10.1016/S1470-2045(09)70041-5
Management of extracolonic tumours in patients with Lynch syndrome.
J. Koornstra (2009)
10.3748/WJG.V12.I31.4943
Hereditary Non-Polyposis Colorectal Cancer: the rise and fall of a confusing term.
J. Jass (2006)
Hereditary nonpolyposis colorectal cancer: diagnostic strategies and their implications.
P. Bonis (2007)
10.1097/MOG.0b013e328012c33d
Current World Literature
(2007)
Hereditary Colorectal Cancer: Registration, Screening and Prognostic Biomarker Analysis
P. Barrow (2015)
10.1002/ijc.29239
Patterns of changing cancer risks with time since diagnosis of a sibling
M. Lee (2015)
10.1007/s10689-013-9634-y
Surveillance for urinary tract cancer in Lynch syndrome
I. Bernstein (2013)
10.1007/S12156-010-0055-Y
Survival in common cancers defined by risk and survival of family members
J. Ji (2011)
10.1016/j.ejca.2011.09.017
Do discordant cancers share familial susceptibility?
K. Hemminki (2012)
10.1177/030089160909500616
Prognostic Relevance of MLH1 and MSH2 Mutations in Hereditary Non-Polyposis Colorectal Cancer Patients
A. Russo (2009)
10.1016/j.fct.2018.12.041
Intestinal epithelial cell apoptosis due to a hemolytic toxin from Vibrio vulnificus and protection by a 36 kDa glycoprotein from Rhus verniciflua Stokes.
Y. Lee (2019)
10.3892/MCO.2014.406
Quantitative analysis of the association between sulfotransferase isoform 1A1 polymorphism and risk of urothelial carcinoma.
K. Liu (2015)
10.1093/neuonc/nou052
Germline rearrangements in families with strong family history of glioma and malignant melanoma, colon, and breast cancer
Ulrika Andersson (2014)
10.3310/hta18580
A systematic review and economic evaluation of diagnostic strategies for Lynch syndrome.
T. Snowsill (2014)
10.1016/j.urology.2015.08.018
Urinary Tract Cancer in Lynch Syndrome; Increased Risk in Carriers of MSH2 Mutations.
P. Joost (2015)
10.1111/his.12190
Does the prognosis of colorectal mucinous carcinoma depend upon the primary tumour site? Results from two independent databases
P. Gao (2013)
10.1007/s10689-009-9310-4
Mismatch repair protein expression and colorectal cancer in Hispanics from Puerto Rico
W. E. De Jesús-Monge (2009)
10.1016/J.JURO.2007.01.030
Behavior of urothelial carcinoma with respect to anatomical location.
J. Catto (2007)
See more
Semantic Scholar Logo Some data provided by SemanticScholar