Skip header and navigation

Refine By

26 records – page 1 of 3.

Ambulatory orthopaedic surgery patient education and cost of care.

https://arctichealth.org/en/permalink/ahliterature137482
Source
Orthop Nurs. 2011 Jan-Feb;30(1):20-8
Publication Type
Article
Author
Katja Heikkinen
Sanna Salanterä
Reima Suomi
Annika Lindblom
Helena Leino-Kilpi
Author Affiliation
Katja Heikkinen, Department of Nursing Science, University of Turku, Turku, Finland.
Source
Orthop Nurs. 2011 Jan-Feb;30(1):20-8
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Ambulatory Surgical Procedures - economics
Female
Finland
Health Care Costs
Humans
Male
Middle Aged
Orthopedics - economics
Patient Education as Topic
Questionnaires
Young Adult
Abstract
To describe and compare ambulatory orthopaedic surgery patients' reported cost of care (out-of-pocket costs, use of time, and consultations with healthcare organizations) and nurses' cost of care (use of time and consultations with other professionals such as other nurses, physicians, and anesthesiologists) when patients receive 2 different types of patient education (Internet-based or face-to-face).
Pretest/posttest design.
Random assignment of all ambulatory orthopaedic surgery patients in a university hospital in Finland.
The experimental group received Web-based patient education and the control group received face-to-face patient education.
Financial and time costs.
Pre-, intra-, and postoperative costs did not differ between the groups. However, Internet-based education was more time-consuming for the patient and face-to-face education was more time-consuming for the nurse. There were no differences between the groups in patients' use of consultations of healthcare professionals. Nurses' consultations were few and did not differ between the groups. The small number of patients' and nurses' consultations indicates that patients in both education methods had enough knowledge to deal with the surgery.
PubMed ID
21278551 View in PubMed
Less detail

Associations of Breast Cancer Risk Factors With Tumor Subtypes: A Pooled Analysis From the Breast Cancer Association Consortium Studies.

https://arctichealth.org/en/permalink/ahliterature99764
Source
J Natl Cancer Inst. 2010 Dec 29;
Publication Type
Article
Date
Dec-29-2010
Author
Xiaohong R Yang
Jenny Chang-Claude
Ellen L Goode
Fergus J Couch
Heli Nevanlinna
Roger L Milne
Mia Gaudet
Marjanka K Schmidt
Annegien Broeks
Angela Cox
Peter A Fasching
Rebecca Hein
Amanda B Spurdle
Fiona Blows
Kristy Driver
Dieter Flesch-Janys
Judith Heinz
Peter Sinn
Alina Vrieling
Tuomas Heikkinen
Kristiina Aittomäki
Päivi Heikkilä
Carl Blomqvist
Jolanta Lissowska
Beata Peplonska
Stephen Chanock
Jonine Figueroa
Louise Brinton
Per Hall
Kamila Czene
Keith Humphreys
Hatef Darabi
Jianjun Liu
Laura J Van 't Veer
Flora E van Leeuwen
Irene L Andrulis
Gord Glendon
Julia A Knight
Anna Marie Mulligan
Frances P O'Malley
Nayana Weerasooriya
Esther M John
Matthias W Beckmann
Arndt Hartmann
Sebastian B Weihbrecht
David L Wachter
Sebastian M Jud
Christian R Loehberg
Laura Baglietto
Dallas R English
Graham G Giles
Catriona A McLean
Gianluca Severi
Diether Lambrechts
Thijs Vandorpe
Caroline Weltens
Robert Paridaens
Ann Smeets
Patrick Neven
Hans Wildiers
Xianshu Wang
Janet E Olson
Victoria Cafourek
Zachary Fredericksen
Matthew Kosel
Celine Vachon
Helen E Cramp
Daniel Connley
Simon S Cross
Sabapathy P Balasubramanian
Malcolm W R Reed
Thilo Dörk
Michael Bremer
Andreas Meyer
Johann H Karstens
Aysun Ay
Tjoung-Won Park-Simon
Peter Hillemanns
Jose Ignacio Arias Pérez
Primitiva Menéndez Rodríguez
Pilar Zamora
Javier Benítez
Yon-Dschun Ko
Hans-Peter Fischer
Ute Hamann
Beate Pesch
Thomas Brüning
Christina Justenhoven
Hiltrud Brauch
Diana M Eccles
William J Tapper
Sue M Gerty
Elinor J Sawyer
Ian P Tomlinson
Angela Jones
Michael Kerin
Nicola Miller
Niall McInerney
Hoda Anton-Culver
Argyrios Ziogas
Chen-Yang Shen
Chia-Ni Hsiung
Pei-Ei Wu
Show-Lin Yang
Jyh-Cherng Yu
Shou-Tung Chen
Giu-Cheng Hsu
Christopher A Haiman
Brian E Henderson
Loic Le Marchand
Laurence N Kolonel
Annika Lindblom
Sara Margolin
Anna Jakubowska
Jan Lubinski
Tomasz Huzarski
Tomasz Byrski
Bohdan Górski
Jacek Gronwald
Maartje J Hooning
Antoinette Hollestelle
Ans M W van den Ouweland
Agnes Jager
Mieke Kriege
Madeleine M A Tilanus-Linthorst
Margriet Collée
Shan Wang-Gohrke
Katri Pylkäs
Arja Jukkola-Vuorinen
Kari Mononen
Mervi Grip
Pasi Hirvikoski
Robert Winqvist
Arto Mannermaa
Veli-Matti Kosma
Jaana Kauppinen
Vesa Kataja
Päivi Auvinen
Ylermi Soini
Reijo Sironen
Stig E Bojesen
David Dynnes Ørsted
Diljit Kaur-Knudsen
Henrik Flyger
Børge G Nordestgaard
Helene Holland
Georgia Chenevix-Trench
Siranoush Manoukian
Monica Barile
Paolo Radice
Susan E Hankinson
David J Hunter
Rulla Tamimi
Suleeporn Sangrajrang
Paul Brennan
James McKay
Fabrice Odefrey
Valerie Gaborieau
Peter Devilee
P E A Huijts
Raem Tollenaar
C. Seynaeve
Gillian S Dite
Carmel Apicella
John L Hopper
Fleur Hammet
Helen Tsimiklis
Letitia D Smith
Melissa C Southey
Manjeet K Humphreys
Douglas Easton
Paul Pharoah
Mark E Sherman
Montserrat Garcia-Closas
Author Affiliation
Affiliations of authors: Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Sciences, Rockville, MD (XRY, SC, JF, LBr, MES, MG-C); Section of Epidemiology and Genetics, Institute of Cancer Research, Sutton, Surrey, UK (MG-C); Division of Cancer Epidemiology, German Cancer Research Center, Heidelberg, Germany (JC-C, RH, AV); Department of Health Sciences Research (ELG, FJC, JEO, VC, ZF, MKo, CV); Department of Laboratory Medicine and Pathology (FJC, XW), Mayo Clinic, Rochester, MN; Department of Obstetrics and Gynecology (HN, THe), Department of Clinical Genetics (KA), Department of Pathology (PHe), and Department of Oncology (CB), Helsinki University Central Hospital, Helsinki, Finland; Genetic and Molecular Epidemiology Group (RLM), Human Cancer Genetic Group (JB), Spanish National Cancer Research Centre (CNIO), Madrid, Spain; Department of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, NY (MGa); Amsterdam Breast Cancer Study, Netherlands Cancer Institute, Amsterdam, the Netherlands (MKS, AB, LJVV, FEvL); Institute for Cancer Studies, Department of Oncology (AC, DC,HEC), Academic Unit of Pathology (SCC), Academic Unit of Surgical Oncology, Department of Oncology (SPB, MWRR), University of Sheffield Medical School, Sheffield, UK; Division of Hematology and Oncology, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA (PAF); Department of Gynecology and Obstetrics, (MWB, SBW, SMJ, CRL), Institute of Pathology (AHa, DLW), University Breast Center Franconia, University Breast Center, University Hospital Erlangen, Erlangen, Germany; The Queensland Institute of Medical Research Post Office, Royal Brisbane Hospital, Herston, Queensland, Australia (ABS, HH, GC-T); Department of Oncology, University of Cambridge, Cambridge, UK (FB, KD, MKH, DE, PP, MG-C); Department of Medical Biometrics and Epidemiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany (DF-J, JH); Department of Pathology, University Hospital, Heidelberg, Germany (PS); Department of Cancer Epidemiology and Prevention, Cancer Center and M. Sklodowska-Curie Institute of Oncology, Warsaw, Poland (JLi); Department of Occupational and Environmental Epidemiology Nofer Institute of Occupational Medicine, Lodz, Poland (BP); Department of Medical Epidemiology and Biostatistics, Karolinska Institute, Stockholm, Sweden (PHa, KC, KH, HD); Human Genetics, Genome Institute of Singapore, Singapore, Singapore (JLi); Ontario Cancer Genetics Network (OCGN), Cancer Care Ontario, Toronto, ON, Canada (ILA, GG, NW); Departments of Molecular Genetics and Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada (ILA); Dalla Lana School of Public Health, University of Toronto, Prosserman Centre for Health Research, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, ON, Canada (JAK); Keenan Research Centre, Li Ka Shing Knowledge Institute of St. Michael's Hospital, and Laboratory Medicine and Pathobiology (AMM), Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, and Laboratory Medicine and Pathobiology (FPOM), University of Toronto, Toronto, Ontario, Canada Northern California Cancer Center, Fremont, CA (EMJ); Department of Health Research and Policy, Stanford University School of Medicine and Stanford Cancer Center, Stanford, CA (EMJ); Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, Australia (LB, DRE, GGG, GS); Centre for Molecular, Environmental, Genetic, and Analytic Epidemiology, The University of Melbourne, Melbourne, Australia (LBa, DRE, GGG, GS, GSD, CA, JLH); The Alfred Hospital, Melbourne, Australia (CAM); Vesalius Research Center, KU Leuven and VIB, Leuven, Belgium (DL); Department of Radiotherapy, University Hospitals, Leuven, Belgium (TV, CW, RP, AS, PN, HW); Department of Obstetrics and Gynaecology (TD, AA, T-WP-S, PH), Department of Radiation Oncology (MB, AM, JHK), Hanover Medical School, Hanover, Germany (TD, MBr, AMe, JHK, AA, T-WP-S, PHi); Servicio Cirugía General (JIAP), Servicio de Anatomía Patológica (PMR), Hospital Monte Naranco, Oviedo, Spain Servicio de Oncología Médica, Hospital La Paz, Madrid, Spain (PZ); CIBERER, Madrid, Spain (JB); Department of Internal Medicine, Evangelische Kliniken Bonn gGmbH, Johanniter Krankenhaus, Bonn, Germany (Y-DK); Institute of Pathology, Medical Faculty of the University of Bonn, Bonn, Germany (H-PF); Molecular Genetics of Breast Cancer, Deutsches Krebsforschungszentrum (DKFZ), Heidelberg, Germany (UH); Institute for Prevention and Occupational Medicine of the German Social Accident Insurance (IPA), Bochum, Germany (BP, TBr ); Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany (CJ, HB); University of Tübingen, Tübingen, Germany (CJ, HB); University of Southampton School of Medicine, Southampton University Hospitals NHS Trust, Southampton (DME, WJT, SMG); Guy's, King's, St Thomas' Cancer Centre, Guy's Hospital, London, UK (EJS); Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK (EJS, IPT, AJo, NMc); Clinical Science Institute, University College Hospital, Galway, Ireland (MKe, NMc, NMi); Department of Epidemiology, University of California Irvine, Irvine (HA-C, AZ); Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan (C-YS, C-NH, P-EW, S-LY); Graduate Institute of Environmental Science, China Medical University, Taichung, Taiwan (C-YS); Department of Surgery (J-CY), Department of Radiology (G-CH), Tri-Service General Hospital, Taipei, Taiwan (J-CY, G-CH); Department of Surgery, Changhua Christian Hospital, Changhua, Taiwan (S-TC); Department of Preventive Medicine, Keck School of Medicine and Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA (CAH, BEH); Epidemiology Program, Cancer Research Center, University of Hawaii, Honolulu, HI (LLM, LNK); Department of Molecular Medicine and Surgery (AL), Department of Oncology and Pathology (SMa), Karolinska Institutet, Stockholm, Sweden; International Hereditary Cancer Centre, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland (AJa, JLu, THu, TBy, BG, JG); Department of Medical Oncology Rotterdam Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, the Netherlands (MJH, AHo, AMWvdO, AJa, MKr, MMAT-L, MC); Department of Obstetrics and Gynecology, University of Ulm, Ulm, Germany (SW-G); University of Oulu, Oulu University Hospital, Oulu, Finland (KP, AJ-V, KM, MGr, PHi, RW); Department of Pathology, Institute of Clinical Medicine, University of Eastern Finland and Kuopio University Hospital; Biocenter Kuopio, Kuopio, Finland (AMa, V-MK, JK, YS, RS); Department of Oncology, Vaasa Central Hospital, Vaasa, Finland (VK); Department of Oncology, Kuopio University Hospital, Kuopio, Finland (PA); The Peter MacCallum Cancer Centre, East Melbourne, Australia (kConFab); Department of Clinical Biochemistry and Department of Breast Surgery, Herlev University Hospital, University of Copenhagen, Copenhagen, Denmark (SEB, DDØ, DK-K, HF, BGN); Unit of Medical Genetics, Department of Preventive and Predictive Medicine (SMa), Unit of Genetic Susceptibility to Cancer, Department of Experimental Oncology and Molecular Medicine (PR), Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy; Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia (IEO), Milan, Italy (MBa); Channing Laboratory, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA (SEH, DJH, RT); Department of Epidemiology, Harvard School of Public Health, Boston, MA (SEH, DJH, RT); Molecular Epidemiology Unit, National Cancer Institute, Ratchathewi, Bangkok, Thailand (SS); International Agency for Research on Cancer, Lyon, France (PB, JM, FO, VG); Department of Human Genetics (PD), Department of Pathology (PD), Department of Clinical Genetics (PEAH), Department of Surgical Oncology (RAEMT), Leiden University Medical Center, Leiden, the Netherlands; Department of Medical Oncology, Rotterdam Family Cancer Clinic, Erasmus MC-Daniel den Hoed Cancer Center, Rotterdam, the Netherlands (CS); The Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Victoria, Australia (FH, HT, LDS, MCS).
Source
J Natl Cancer Inst. 2010 Dec 29;
Date
Dec-29-2010
Language
English
Publication Type
Article
Abstract
Background Previous studies have suggested that breast cancer risk factors are associated with estrogen receptor (ER) and progesterone receptor (PR) expression status of the tumors. Methods We pooled tumor marker and epidemiological risk factor data from 35?568 invasive breast cancer case patients from 34 studies participating in the Breast Cancer Association Consortium. Logistic regression models were used in case-case analyses to estimate associations between epidemiological risk factors and tumor subtypes, and case-control analyses to estimate associations between epidemiological risk factors and the risk of developing specific tumor subtypes in 12 population-based studies. All statistical tests were two-sided. Results In case-case analyses, of the epidemiological risk factors examined, early age at menarche (=12 years) was less frequent in case patients with PR(-) than PR(+) tumors (P = .001). Nulliparity (P = 3 × 10(-6)) and increasing age at first birth (P = 2 × 10(-9)) were less frequent in ER(-) than in ER(+) tumors. Obesity (body mass index [BMI] = 30 kg/m(2)) in younger women (=50 years) was more frequent in ER(-)/PR(-) than in ER(+)/PR(+) tumors (P = 1 × 10(-7)), whereas obesity in older women (>50 years) was less frequent in PR(-) than in PR(+) tumors (P = 6 × 10(-4)). The triple-negative (ER(-)/PR(-)/HER2(-)) or core basal phenotype (CBP; triple-negative and cytokeratins [CK]5/6(+) and/or epidermal growth factor receptor [EGFR](+)) accounted for much of the heterogeneity in parity-related variables and BMI in younger women. Case-control analyses showed that nulliparity, increasing age at first birth, and obesity in younger women showed the expected associations with the risk of ER(+) or PR(+) tumors but not triple-negative (nulliparity vs parity, odds ratio [OR] = 0.94, 95% confidence interval [CI] = 0.75 to 1.19, P = .61; 5-year increase in age at first full-term birth, OR = 0.95, 95% CI = 0.86 to 1.05, P = .34; obesity in younger women, OR = 1.36, 95% CI = 0.95 to 1.94, P = .09) or CBP tumors. Conclusions This study shows that reproductive factors and BMI are most clearly associated with hormone receptor-positive tumors and suggest that triple-negative or CBP tumors may have distinct etiology.
PubMed ID
21191117 View in PubMed
Less detail

BRCA1 mutations in a population-based study of breast cancer in Stockholm County.

https://arctichealth.org/en/permalink/ahliterature17521
Source
Genet Test. 2004;8(2):127-32
Publication Type
Article
Date
2004
Author
Sara Margolin
Barbro Werelius
Tommy Fornander
Annika Lindblom
Author Affiliation
Department of Oncology, Huddinge University Hospital, Södersjukhuset, S 118 83 Stockholm, Sweden. sara.margolin@kus.se
Source
Genet Test. 2004;8(2):127-32
Date
2004
Language
English
Publication Type
Article
Keywords
Adult
Aged
BRCA1 Protein - genetics
BRCA2 Protein - genetics
Breast Neoplasms - epidemiology - genetics
Female
Humans
Middle Aged
Mutation
Pedigree
Research Support, Non-U.S. Gov't
Risk factors
Sweden - epidemiology
Abstract
The mutation frequency of BRCA1 and BRCA2 in women with breast cancer varies according to family history, age at diagnosis and ethnicity. The contribution of BRCA1 and BRCA2 mutations in breast cancer populations, unselected for age and family history, has been examined in several studies reporting mutation frequencies between 1% and 12% by screening methods, population sizes, and to what extent the gene/s were screened differed in the studies. We wanted to clarify the proportion of breast cancer attributable to mutations in BRCA1 in an unselected breast cancer population from the Stockholm region. All incident breast cancer patients treated surgically in a 19-month period were eligible for the study and 70% (489/696) participated. Exon 11 of BRCA1 was screened for mutations using the protein truncation test, and the mutation frequency was estimated from that. In previous studies on high-risk families from Stockholm, more than 70% of the mutations were detected in exon 11. Two mutations were found, both in patients with a family history or their own medical history of ovarian cancer, giving a mutation frequency in exon 11 of 0.4% and an estimated BRCA1 mutation frequency of
PubMed ID
15345109 View in PubMed
Less detail

CGH analysis of familial non-BRCA1/BRCA2 breast tumors and mutation screening of a candidate locus on chromosome 17q11.2-12.

https://arctichealth.org/en/permalink/ahliterature16969
Source
Int J Mol Med. 2005 Jul;16(1):135-41
Publication Type
Article
Date
Jul-2005
Author
Paula Maguire
Kerstin Holmberg
Maria Kost-Alimova
Stefan Imreh
Lambert Skoog
Annika Lindblom
Author Affiliation
Department of Molecular Medicine, Karolinska Institute, Stockholm 171 76, Sweden.
Source
Int J Mol Med. 2005 Jul;16(1):135-41
Date
Jul-2005
Language
English
Publication Type
Article
Keywords
BRCA1 Protein - genetics
BRCA2 Protein - genetics
Breast Neoplasms - genetics
Chromosomes, Human, Pair 17 - genetics
DNA Mutational Analysis
Genetic Predisposition to Disease
Genetic Screening
Genomics
Haplotypes
Humans
Mutation - genetics
Nucleic Acid Hybridization
Research Support, Non-U.S. Gov't
Risk factors
Abstract
Mutations in the known predisposing breast cancer genes BRCA1 and BRCA2 account for only a small proportion (
PubMed ID
15942690 View in PubMed
Less detail

Colonoscopy findings in high-risk individuals compared to an average-risk control population.

https://arctichealth.org/en/permalink/ahliterature271344
Source
Scand J Gastroenterol. 2015 Jul;50(7):866-74
Publication Type
Article
Date
Jul-2015
Author
Anna Forsberg
Lars Kjellström
Anna Andreasson
Edgar Jaramillo
Carlos A Rubio
Erik Björck
Lars Agréus
Nicholas J Talley
Annika Lindblom
Source
Scand J Gastroenterol. 2015 Jul;50(7):866-74
Date
Jul-2015
Language
English
Publication Type
Article
Keywords
Adenoma - diagnosis - pathology
Adolescent
Adult
Age Factors
Aged
Aged, 80 and over
Case-Control Studies
Colonoscopy - methods
Colorectal Neoplasms - diagnosis - epidemiology - pathology
Colorectal Neoplasms, Hereditary Nonpolyposis - diagnosis - pathology
Female
Humans
Kaplan-Meier Estimate
Logistic Models
Male
Mass Screening
Middle Aged
Polyps - pathology
Risk factors
Sex Factors
Sweden
Young Adult
Abstract
There is clear evidence of reduced morbidity and mortality from regular colonoscopy programs in patients with Lynch syndrome (LS). Today, also individuals with empirically increased risks of colorectal cancer (CRC) are offered colonoscopic surveillance. The aim was to compare the findings at the first screening colonoscopy in LS carriers, and individuals with an increased risk of bowel cancer due to family history of CRC with a control population.
Altogether 1397 individuals with an increased risk for CRC were divided in four risk groups: one with LS carriers and three groups with individuals with different family history of CRC. The findings were compared between the different risk groups and a control group consisting of 745 individuals from a control population who took part in a population-based colonoscopy study.
In LS, 30% of the individuals had adenomas and 10% advanced adenomas. The corresponding figures in the other risk groups were 14-24% and 4-7%, compared with 10% and 3% in the control group. The relative risk of having adenomas and advanced adenomas was, compared to controls, significantly higher for all risk groups except the group with the lowest risk. Age was a strong predictor for adenomas and advanced adenomas in both risk individuals and controls.
Individuals with a family history of CRC have a high prevalence and cumulative risk of adenomas and advanced adenomas, and screening is motivated also in this risk group.
PubMed ID
25762374 View in PubMed
Less detail

Common variants in human CRC genes as low-risk alleles.

https://arctichealth.org/en/permalink/ahliterature98081
Source
Eur J Cancer. 2010 Apr;46(6):1041-8
Publication Type
Article
Date
Apr-2010
Author
Simone Picelli
Pawel Zajac
Xiao-Lei Zhou
David Edler
Claes Lenander
Johan Dalén
Fredrik Hjern
Nils Lundqvist
Ulrik Lindforss
Lars Påhlman
Kennet Smedh
Anders Törnqvist
Jörn Holm
Martin Janson
Magnus Andersson
Susanne Ekelund
Louise Olsson
Joakim Lundeberg
Annika Lindblom
Author Affiliation
Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden.
Source
Eur J Cancer. 2010 Apr;46(6):1041-8
Date
Apr-2010
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Alleles
Case-Control Studies
Colorectal Neoplasms - epidemiology - genetics
Female
Genetic Predisposition to Disease - epidemiology - genetics
Genome-Wide Association Study
Genotype
Germ-Line Mutation - genetics
Humans
Male
Middle Aged
Penetrance
Polymorphism, Genetic
Risk factors
Sweden - epidemiology
Young Adult
Abstract
The genetic susceptibility to colorectal cancer (CRC) has been estimated to be around 35% and yet high-penetrance germline mutations found so far explain less than 5% of all cases. Much of the remaining variations could be due to the co-inheritance of multiple low penetrant variants. The identification of all the susceptibility alleles could have public health relevance in the near future. To test the hypothesis that what are considered polymorphisms in human CRC genes could constitute low-risk alleles, we selected eight common SNPs for a pilot association study in 1785 cases and 1722 controls. One SNP, rs3219489:G>C (MUTYH Q324H) seemed to confer an increased risk of rectal cancer in homozygous status (OR=1.52; CI=1.06-2.17). When the analysis was restricted to our 'super-controls', healthy individuals with no family history for cancer, also rs1799977:A>G (MLH1 I219V) was associated with an increased risk in both colon and rectum patients with an odds ratio of 1.28 (CI=1.02-1.60) and 1.34 (CI=1.05-1.72), respectively (under the dominant model); while 2 SNPs, rs1800932:A>G (MSH6 P92P) and rs459552:T>A (APC D1822V) seemed to confer a protective effect. The latter, in particular showed an odds ratio of 0.76 (CI=0.60-0.97) among colon patients and 0.73 (CI=0.56-0.95) among rectal patients. In conclusion, our study suggests that common variants in human CRC genes could constitute low-risk alleles.
PubMed ID
20149637 View in PubMed
Less detail

Defining New Colorectal Cancer Syndromes in a Population-based Cohort of the Disease.

https://arctichealth.org/en/permalink/ahliterature281663
Source
Anticancer Res. 2017 04;37(4):1831-1835
Publication Type
Article
Date
04-2017
Author
Anna Forsberg
Anne Keränen
Susanna VON Holst
Simone Picelli
Nikos Papadogiannakis
Sam Ghazi
Annika Lindblom
Source
Anticancer Res. 2017 04;37(4):1831-1835
Date
04-2017
Language
English
Publication Type
Article
Keywords
Aged
Colorectal Neoplasms - diagnosis - epidemiology
Female
Follow-Up Studies
Genetic Predisposition to Disease
Humans
Male
Neoplasm Staging
Prognosis
Risk factors
Sweden - epidemiology
Syndrome
Abstract
Most known cancer syndromes confer an increased risk of more than one tumour types, and families with more than one colorectal cancer often segregate other cancers as well. The aim of this study was to examine if there is a general increased risk of other cancers in colorectal cancer families, which are defined as having two or more cases of colorectal cancer in close relatives.
The study used a detailed family history of cancer diagnoses in a cohort of more than 3,000 consecutive colorectal cancer cases. A comparison was made between families with sporadic and those with familial colorectal cancer cases. Detailed morphology data were used to find further support for putative syndromes.
There were significantly more non-colorectal cancers in the family history of the familial CRC cases (p
PubMed ID
28373448 View in PubMed
Less detail

[Essential to discover hereditary colorectal and endometrial cancer. Mutations in "HNPCC individuals" can cause several different tumors]

https://arctichealth.org/en/permalink/ahliterature18854
Source
Lakartidningen. 2002 Aug 22;99(34):3296-300
Publication Type
Article
Date
Aug-22-2002
Author
Mef Nilbert
Henrik Grönberg
Annika Lindblom
Author Affiliation
Onkologiska kliniken, Universitetssjukhuset i Lund. Mef.Nilbert@onk.lu.se
Source
Lakartidningen. 2002 Aug 22;99(34):3296-300
Date
Aug-22-2002
Language
Swedish
Publication Type
Article
Keywords
Base Pair Mismatch
Colorectal Neoplasms - genetics - pathology - prevention & control
Colorectal Neoplasms, Hereditary Nonpolyposis - complications - genetics - pathology
Cost-Benefit Analysis
Endometrial Neoplasms - genetics - prevention & control
English Abstract
Female
Finland
Genetic Counseling
Genetic Predisposition to Disease
Genetic Screening - economics
Humans
Male
Mutation - genetics
Sweden
Abstract
Hereditary Nonpolyposis Colorectal Cancer (HNPCC) is one of our most common hereditary cancer syndromes and confers an increased risk for several tumor types, with the greatest lifetime risks being for colorectal cancer and endometrial cancer. Hereditary mutations in one of several mismatch-repair (MMR) genes cause the syndrome, and 39 such mutations, involving the genes MLH1, MSH2 and MSH6, have been been characterized in Sweden. Screening programs for HNPCC have been shown to be cost-effective and to prevent cancer. Identification of HNPCC individuals thus allows prevention of additional tumors in the patient as well as in the family.
PubMed ID
12362848 View in PubMed
Less detail

Estrogen receptor beta (ESR2) polymorphisms in familial and sporadic breast cancer.

https://arctichealth.org/en/permalink/ahliterature172204
Source
Breast Cancer Res Treat. 2005 Nov;94(2):145-52
Publication Type
Article
Date
Nov-2005
Author
Paula Maguire
Sara Margolin
Johanna Skoglund
Xiao-Feng Sun
Jan-Ake Gustafsson
Anne-Lise Børresen-Dale
Annika Lindblom
Author Affiliation
Department of Molecular Medicine, Karolinska Institute, Stockholm, Sweden.
Source
Breast Cancer Res Treat. 2005 Nov;94(2):145-52
Date
Nov-2005
Language
English
Publication Type
Article
Keywords
Breast Neoplasms - genetics - pathology
DNA - analysis
DNA Primers
Estrogen Receptor beta - genetics
European Continental Ancestry Group - genetics
Female
Genetic Predisposition to Disease
Humans
Neoplasms, Hormone-Dependent - genetics - pathology
Norway
Pedigree
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
Risk factors
Abstract
Estrogen is involved in both normal mammary development and in breast carcinogenesis. A family history of disease and exposure to estrogen are major risk factors for developing breast cancer. Estrogen exerts its biological effects through binding to the estrogen receptors, estrogen receptor alpha (ESR1) and the more recently discovered estrogen receptor beta (ESR2). Genetic variation in genes involved in estrogen biosynthesis, metabolism and signal transduction have been suggested to play a role in breast cancer risk. We therefore tested the hypothesis that common genetic variants of the ESR2 gene may be associated with increased risk for breast cancer and this risk may vary between breast cancer groups. We investigated three common ESR2 polymorphisms, rs1256049 (G1082A), rs4986938 (G1730A) and rs928554 (Cx+56 A-->G) for association to breast cancer risk. A total of 723 breast cancer cases and 480 controls were included in the study. Of the breast cancer cases, 323 were sporadic and 400 were familial, the familial cases were further divided into familial high-risk and familial low-risk breast cancer cases. We found no overall statistically significant association for any of the single polymorphisms studied. Haplotype analysis suggested one haplotype associated with increased risk in sporadic breast cancer patients (OR = 3.0, p = 0.03). Further analysis is needed to elucidate the role of estrogen receptor beta in breast cancer susceptibility.
PubMed ID
16261413 View in PubMed
Less detail

26 records – page 1 of 3.