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List of works by Annika Lindblom

11q13 is a susceptibility locus for hormone receptor positive breast cancer

scientific article

19p13.1 is a triple-negative-specific breast cancer susceptibility locus

scientific article published on 13 February 2012

2q36.3 is associated with prognosis for oestrogen receptor-negative breast cancer patients treated with chemotherapy

scientific article

7q21-rs6964587 and breast cancer risk: an extended case-control study by the Breast Cancer Association Consortium

scientific article

9q31.2-rs865686 as a susceptibility locus for estrogen receptor-positive breast cancer: evidence from the Breast Cancer Association Consortium

scientific article published on 02 August 2012

A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome

scientific article

A genome wide linkage analysis in Swedish families with hereditary non-familial adenomatous polyposis/non-hereditary non-polyposis colorectal cancer

scientific article published on 8 September 2005

A germline E-cadherin mutation in a family with gastric and colon cancer.

scientific article published in October 2001

A germline variant in the TP53 polyadenylation signal confers cancer susceptibility

scientific article published on 25 September 2011

A human compound heterozygote for two MLH1 missense mutations

scientific article published on 01 October 1997

A hypothesis-generating search for new genetic breast cancer syndromes--a national study in 803 Swedish families

scientific article

A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46,450 cases and 42,461 controls from the breast cancer association consortium

scientific article

A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants

scientific article

A naturally occurring mutation in an ATP-binding domain of the recombination repair gene XRCC3 ablates its function without causing cancer susceptibility

scientific article published in April 2003

A network analysis to identify mediators of germline-driven differences in breast cancer prognosis

scientific article published on 16 January 2020

A new polymorphism in the coding region of exon four in HSD17B2 in relation to risk of sporadic and hereditary breast cancer

scientific article published on 27 January 2007

A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

scientific article

A pooled analysis of the outcome of prospective colonoscopic surveillance for familial colorectal cancer

scientific article published on 29 August 2013

A rare CYP19 (aromatase) variant may increase the risk of breast cancer

scientific article published on 01 February 1998

A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families

A screen for germline mutations in the gene encoding CCCTC-binding factor (CTCF) in familial non-BRCA1/BRCA2 breast cancer

scientific article

A screening for BRCA1 mutations in breast and breast-ovarian cancer families from the Stockholm region

scientific article published on 01 June 1997

A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer

scientific article

A study of the PTEN/MMAC1 gene in 136 breast cancer families

scientific article published on 01 January 1998

A widely expressed transcription factor with multiple DNA sequence specificity, CTCF, is localized at chromosome segment 16q22.1 within one of the smallest regions of overlap for common deletions in breast and prostate cancers

scientific article

APC I1307K and E1317Q variants are rare or do not occur in Swedish colorectal cancer patients

scientific article

ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma

scientific article

ATM mutations in cancer families

scientific article published on 01 September 1996

Adenoma prevalence and cancer risk in familial non-polyposis colorectal cancer

scientific article published on February 2002

Age- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers

scientific article

Ambulatory orthopaedic surgery patient education and cost of care

scientific article published in January 2011

An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression

scientific article

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

scientific article published on 25 April 2015

Analysis of colorectal cancer morphology in relation to sex, age, location, and family history ⬇️

scientific article published on January 18, 2012

Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus

scientific article

Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with prognosis of estrogen receptor-negative breast cancer after chemotherapy

scientific article

Association analysis identifies 65 new breast cancer risk loci.

scientific article published on 23 October 2017

Association of ESR1 gene tagging SNPs with breast cancer risk

scientific article published on 06 January 2009

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

scientific article published on 13 November 2019

Association of adenomatous polyposis coli (APC) gene polymorphisms with autism spectrum disorder (ASD).

scientific article published on April 2007

Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21.

scientific article published on 21 October 2016

Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry

scientific article published on 06 April 2016

Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment

scientific article published on 18 August 2021

Association studies on 11 published colorectal cancer risk loci

scientific article

Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies

scientific article

Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium

scientific article published on 18 August 2011

BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing

scientific article

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

scientific article published on August 2012

BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

scientific article published on 10 March 2017

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

scientific article

BRCA2 germline mutations in Swedish breast cancer families.

scientific article

Bioinformatics for Human Genetics: Promises and Challenges ⬇️

scientific article published on May 1, 2011

Body mass index and breast cancer survival: a Mendelian randomization analysis

scientific article published in December 2017

Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk

scientific article published on 28 September 2020

Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

scientific article

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

scientific article

CDH1 mutations are present in both ductal and lobular breast cancer, but promoter allelic variants show no detectable breast cancer risk

scientific article published in March 2002

CHEK2 1100delC is prevalent in Swedish early onset familial breast cancer

scientific article

CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer

scientific article

COL11A1 in FAP polyps and in sporadic colorectal tumors

scientific article

CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer

scientific article

Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database

scientific article published on 9 December 2015

Cancer occurrence during follow-up of the CAPP2 study -aspirin use for up to four years significantly reduces Lynch syndrome cancers for up to several years after completion of therapy.

scientific article published on 25 May 2010

Cancer risk susceptibility loci in a Swedish population

scientific article published on 25 November 2017

Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk

scientific article published in February 2015

Chromosomal deletions in anaplastic meningiomas suggest multiple regions outside chromosome 22 as important in tumor progression

scientific article published in February 1994

Classification of colorectal polyps: guidelines for the endoscopist

scientific article

Clinicopathological analysis of colorectal cancer: a comparison between emergency and elective surgical cases

scientific article published on 11 June 2013

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

scientific article

Colorectal cancer as a complex disease: defining at-risk subjects in the general population - a preventive strategy

scientific article published on June 2004

Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report

scientific article published on 10 October 2017

Colorectal cancer susceptibility loci in a population-based study: Associations with morphological parameters

scientific article

Colorectal cancer with and without microsatellite instability involves different genes

scientific article published on 01 November 1999

Colorectal carcinogenesis is associated with stromal expression of COL11A1 and COL5A2

scientific article published on 01 June 2001

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

scientific article published on 23 March 2016

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article published on 18 May 2011

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

scientific article

Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium

scientific article

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

scientific article

Common variants in human CRC genes as low-risk alleles

scientific article

Common variants on chromosome 5p12 confer susceptibility to estrogen receptor–positive breast cancer

Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer

scientific article

Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk

scientific article

Comparison of 6q25 breast cancer hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

scientific article

Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer

scientific article published in October 2015

Consortium study on 1280 breast carcinomas: allelic loss on chromosome 17 targets subregions associated with family history and clinical parameters

scientific article published on 01 March 1998

Correction to: Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer

scientific article published on 01 July 2019

Correction: Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

scientific article published in PLoS ONE

Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42,103 individuals

scientific article published on 05 April 2012

Cyclin D2 expression in familial and sporadic breast cancer

scientific article published in November 2002

DGGE screening of mutations in mismatch repair genes (hMSH2 and hMLH1) in 34 Swedish families with colorectal cancer.

scientific article published in February 1998

Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010.

scientific article published on 8 March 2011

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

scientific article

Definition of candidate low risk APC alleles in a Swedish population

scientific article published on July 2004

Deletions on chromosome 16 in primary familial breast carcinomas are associated with development of distant metastases

article

Differential expression of aquaporin 8 in human colonic epithelial cells and colorectal tumors

scientific article

Discovery of common and rare genetic risk variants for colorectal cancer

scientific article published on 03 December 2018

Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status

scientific article published on 4 August 2004

Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome

scientific article

Enhanced detection of mutations in BRCA1 exon 11 using restriction endonuclease fingerprinting-single-strand conformation polymorphism

scientific article published on 01 January 2000

Erratum: Corrigendum: ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma

scholarly article published in Nature Genetics

Erratum: Corrigendum: Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer

article

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

scientific article

European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene

scientific article

Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers

scientific article published on February 2017

Evaluation of psychosocial effects of pre-symptomatic testing for breast/ovarian and colon cancer pre-disposing genes: a 12-month follow-up

scientific article published in January 2004

Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk

scientific article published on 27 October 2011

Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation

scientific article

Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation

scientific article published on 03 September 2016

Exome sequencing in one family with gastric- and rectal cancer

scientific article published on 13 February 2016

FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium

scientific article published on February 2014

Familial breast cancer and genes involved in breast carcinogenesis ⬇️

scientific article published on May 1, 1995

Familial breast cancer, underlying genes, and clinical implications: a review

scientific article published on July 2006

Familial cancer among consecutive uterine cancer patients in Sweden

scientific article published on 7 May 2014

Families with hereditary cancer--a target group for prevention

scientific article published in November 1990

Family history of colorectal cancer in a Sweden county

scientific article published on January 1, 2003

Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs).

scientific article published on 07 September 2016

Fine scale mapping of the breast cancer 16q12 locus

scientific article

Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus

scientific article

Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2.

scientific article published on 4 February 2015

Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

article

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

scientific article published on 07 January 2020

Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk

scientific article

Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer

scientific article

Fine-scale mapping of the 4q24 locus identifies two independent loci associated with breast cancer risk

scientific article

Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1.

scientific article

Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1.

scientific article

Finnish mutations in Swedish HNPCC families

scientific article published in November 1995

First BRCA1 and BRCA2 gene testing implemented in the health care system of Stockholm

scientific article published on 01 January 2001

Five endometrial cancer risk loci identified through genome-wide association analysis

scientific article published on 02 May 2016

Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium

scientific article

Four separate regions on chromosome 17 show loss of heterozygosity in familial breast carcinomas

scientific article published on 01 March 1993

Frameshift-mutation-derived peptides as tumor-specific antigens in inherited and spontaneous colorectal cancer

scientific article

Frequent alterations of the PI3K/AKT/mTOR pathways in hereditary nonpolyposis colorectal cancer

scientific article published in June 2010

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

scientific article published on 7 September 2016

Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers

scientific article published on 27 March 2013

Further evidence for the contribution of the RAD51C gene in hereditary breast and ovarian cancer susceptibility

article

Genetic Risk Score Mendelian Randomization Shows that Obesity Measured as Body Mass Index, but not Waist:Hip Ratio, Is Causal for Endometrial Cancer

scientific article published on 22 August 2016

Genetic analyses of gynecological disease identify genetic relationships between uterine fibroids and endometrial cancer, and a novel endometrial cancer genetic risk region at the WNT4 1p36.12 locus

scientific article published on 15 July 2021

Genetic insights into biological mechanisms governing human ovarian ageing

scientific article

Genetic mapping of a second locus predisposing to hereditary non–polyposis colon cancer

scientific article published on 01 November 1993

Genetic modifiers of CHEK2*1100delC-associated breast cancer risk

scientific article published on 06 October 2016

Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses.

scientific article published on 2 April 2018

Genetic predisposition to ductal carcinoma in situ of the breast

scientific article published on 17 February 2016

Genetic predisposition to in situ and invasive lobular carcinoma of the breast

scientific article

Genetic rearrangements in sporadic and familial gastric carcinomas detected with microsatellite markers

scientific article published on 01 December 1994

Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer

article

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article

Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study

scientific article

Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade

scientific article

Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer

scientific article published on 2 August 2009

Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent

scientific article (publication date: August 2016)

Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types

scientific article published in September 2016

Genome-wide association analysis identifies three new breast cancer susceptibility loci

scientific article published on 22 January 2012

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

scientific article

Genome-wide association studies identify four ER negative-specific breast cancer risk loci

scientific article published in April 2013

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

scientific article published on 18 May 2020

Genome-wide association study of germline variants and breast cancer-specific mortality

scientific article published on 21 February 2019

Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer

scientific article published on 26 May 2014

Genome-wide linkage scan for colorectal cancer susceptibility genes supports linkage to chromosome 3q.

scientific article

Germline BRCA1 and HMLH1 mutations in a family with male and female breast carcinoma

scientific article published on 01 March 2000

Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk

scientific article published on 16 June 2020

Germline mutation screening of the STK11/LKB1 gene in familial breast cancer with LOH on 19p

scientific article published on 01 May 2000

Germline mutations in the MYH gene in Swedish familial and sporadic colorectal cancer

scientific article

Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis

scientific article published on 5 October 2021

Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian Randomization

scientific article

Hereditary breast cancer in sweden: a predominance of maternally inherited cases

scientific article published in June 1992

Hereditary breast cancer: a review

scientific article

High allele loss rates at 17q12-q21 in breast and ovarian tumors from BRCAl-linked families. The Breast Cancer Linkage Consortium

scientific article published on 01 July 1995

High incidence of skewed X chromosome inactivation in young patients with familial non-BRCA1/BRCA2 breast cancer

scientific article published on 6 May 2005

How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.

scientific article

Hyperplastic polyposis coli syndrome and colorectal carcinoma

scientific article

Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

scientific article

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

scientific article published on 27 April 2016

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

scientific article

Identification of nine new susceptibility loci for endometrial cancer

scientific article published in Nature Communications

Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis

scientific article

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

scientific article published on 23 October 2017

Immunohistochemical Loss of the DNA Mismatch Repair Proteins MSH2 and MSH6 in Malignant Fibrous Histiocytomas

scientific article published on January 2004

Improved Tumor Staging in Colorectal Cancer ⬇️

scientific article published on July 23, 1998

Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database

scientific article published on 3 June 2016

Individuals with an increased risk of colorectal cancer: perceived benefits and psychological aspects of surveillance by means of regular colonoscopies

scientific article

Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancer

scientific article

Ki-ras mutations and prognosis in colorectal cancer

scientific article published in March 1998

Lack of HIN-1 methylation in BRCA1-linked and "BRCA1-like" breast tumors.

scientific article

Lack of an Association between the TGFBR1*6A Variant and Colorectal Cancer Risk

Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report

scientific article published on 28 February 2019

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

scientific article

Linkage analysis in a large Swedish family supports the presence of a susceptibility locus for adenoma and colorectal cancer on chromosome 9q22.32-31.1.

scientific article published in February 2006

Linkage analysis in familial non-Lynch syndrome colorectal cancer families from Sweden

scientific article

Linkage analysis with markers on 17q in 29 Swedish breast cancer families

scientific article

Linkage to chromosome 2q32.2-q33.3 in familial serrated neoplasia (Jass syndrome).

scientific article

Long-range PCR facilitates the identification of PMS2-specific mutations.

scientific article

Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial

scientific article published on 27 October 2011

Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial

article

Loss of heterozygosity at chromosome 3p correlates with telomerase activity in renal cell carcinoma ⬇️

scientific article published on August 1, 1998

Loss of heterozygosity in familial breast carcinomas

scientific article published on 01 September 1993

Loss of heterozygosity studies in tumors from families with breast-ovarian cancer syndrome

scientific article published on 01 September 1994

Loss of mismatch repair protein immunostaining in colorectal adenomas from patients with hereditary nonpolyposis colorectal cancer

Low frequency of E-cadherin alterations in familial breast cancer

scientific article

Low frequency of hMSH2 mutations in Swedish HNPCC families

scientific article published on 01 February 1997

Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium

scientific article

Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) Diagnostics

MSH2 codon 322 Gly to Asp seems not to confer an increased risk for colorectal cancer susceptibility

scientific article published on 01 November 1998

MSH6 and MSH3 are rarely involved in genetic predisposition to nonpolypotic colon cancer.

scientific article

MSI test to distinguish between HNPCC and other predisposing syndromes -- of value in tailored surveillance

scientific article

Mechanism of diarrhea in collagenous colitis

scientific article published on 01 June 2003

Mendelian randomisation study of age at menarche and age at menopause and the risk of colorectal cancer

Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

scientific article

Meta-analysis of mismatch repair polymorphisms within the cogent consortium for colorectal cancer susceptibility

scientific article

MicroRNA related polymorphisms and breast cancer risk

scientific article

Microsatellite Instability and hMLH1 and hMSH2 expression analysis in familial and sporadic colorectal cancer

scientific article published on 01 April 2001

Microsatellite instability analysis and/or immunostaining for the diagnosis of hereditary nonpolyposis colorectal cancer?

article

Microsatellite instability and mismatch repair gene inactivation in sporadic pancreatic and colon tumours

scientific article published on April 1999

Microsatellite instability as a predictor of a mutation in a DNA mismatch repair gene in familial colorectal cancer

scientific article published on 01 January 2000

Microsatellite instability in sporadic colorectal cancer is not an independent prognostic factor

scientific article published on September 1999

Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population

scientific article published on September 2016

Missense mutations in hMLH1 associated with colorectal cancer

scientific article published on 01 November 1999

Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls

scientific article

Mixed lineage kinase 3 gene mutations in mismatch repair deficient gastrointestinal tumours

scientific article

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

scientific article published on April 2013

Mutation analyses of KRAS exon 1 comparing three different techniques: temporal temperature gradient electrophoresis, constant denaturant capillary electrophoresis and allele specific polymerase chain reaction

scientific article

Mutation analysis of the DBC2 gene in sporadic and familial breast cancer

scientific article (publication date: 2007)

Mutation screening in the hMLH1 gene in Swedish hereditary nonpolyposis colon cancer families

article

New common variants affecting susceptibility to basal cell carcinoma

scientific article

Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2.

scientific article published on 29 March 2009

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

scientific article published in May 2015

No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing

scientific article published on 26 February 2016

No mutations in the BACH1 gene in BRCA1 and BRCA2 negative breast-cancer families linked to 17q22

scientific article (publication date: April 2002)

Nobody will be punished for one's own hereditary disposition. Genetic information should be protected by law

scientific article published in March 1996

Novel Common Genetic Susceptibility Loci for Colorectal Cancer

scientific article published on 01 February 2019

Obesity, Aspirin, and Risk of Colorectal Cancer in Carriers of Hereditary Colorectal Cancer: A Prospective Investigation in the CAPP2 Study

scientific article published on 17 August 2015

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

scientific article

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

scientific article published in December 2016

PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1.

scientific article published on 12 October 2017

Parent of Origin and Prognosis in Familial Breast Cancer in Sweden

scientific article

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

scientific article

Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes

scientific article published on 17 March 2022

Patient survival and tumor characteristics associated with CHEK2:p.I157T - findings from the Breast Cancer Association Consortium

scientific article published on 03 October 2016

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

scientific article

Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression

scientific article published on 11 June 2015

Prediction and clinical utility of a contralateral breast cancer risk model

scientific article published on 17 December 2019

Prediction of breast cancer risk based on profiling with common genetic variants

scientific article published on 8 April 2015

Prediction of contralateral breast cancer: external validation of risk calculators in 20 international cohorts

scientific article published on 11 April 2020

Predisposition for breast cancer in carriers of constitutional translocation 11q;22q

scientific article published in May 1994

Preoperative psychological reactions and quality of life among women with an increased risk of breast cancer who are considering a prophylactic mastectomy

scientific article published in February 2004

Prevalence and incidence of hyperplastic polyps and adenomas in familial colorectal cancer: correlation between the two types of colon polyps

scientific article published on August 2003

Prevalence of adenomas and hyperplastic polyps in mismatch repair mutation carriers among CAPP2 participants: report by the colorectal adenoma/carcinoma prevention programme 2.

scientific article published on July 2008

Psychological reactions, quality of life, and body image after bilateral prophylactic mastectomy in women at high risk for breast cancer: a prospective 1-year follow-up study

scientific article

Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation.

scientific article published on 10 April 2018

Publisher Correction: Shared heritability and functional enrichment across six solid cancers

scientific article published on 23 September 2019

RAD51B in Familial Breast Cancer

scientific article

Re: Dominant negative ATM mutations in breast cancer families

scientific article published on 01 June 2002

Recommendations of the 2006 Human Variome Project meeting

scientific article published in April 2007

Recurrent, low-frequency coding variants contributing to colorectal cancer in the Swedish population

scientific article published on 16 March 2018

Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

scientific article

Regulator of Chromosome Condensation 2 Identifies High-Risk Patients within Both Major Phenotypes of Colorectal Cancer

scientific article published on 24 April 2015

Report of the combined meeting of the International Society for Gastrointestinal Hereditary Tumours, the Human Variome Project and the National Cancer Institute Colon Cancer Family Registry, Duesseldorf, Germany, 24 June 2009.

scientific article published in December 2010

Reproductive profiles and risk of breast cancer subtypes: a multi-center case-only study.

scientific article published on 7 November 2017

Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability ⬇️

scientific article

Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts

scientific article published on 13 February 2013

Risk perception after genetic counseling in patients with increased risk of cancer

scientific article published on 23 August 2009

Screening families with endometrial and colorectal cancers for germline mutations

scientific article published in September 2001

Screening for TP53 mutations in patients and tumours from 109 Swedish breast cancer families

scientific article

Screening for genomic rearrangements of the MMR genes must be included in the routine diagnosis of HNPCC.

scientific article published in January 2004

Screening for germline phosphatase and tensin homolog-mutations in suspected Cowden syndrome and Cowden syndrome-like families among uterine cancer patients

scientific article published on 23 January 2015

Screening of 229 family cancer patients for a germline estrogen receptor gene (ESR) base mutation

scientific article published on 01 January 1997

Sequence variability of a prolonged tetranucleotide repeat ⬇️

scientific article published on 01 April 1995

Sequence variant on 8q24 confers susceptibility to urinary bladder cancer

scientific article

Sequence variants at the TERT-CLPTM1L locus associate with many cancer types

scientific article (publication date: February 2009)

Shared heritability and functional enrichment across six solid cancers

scientific article published in Nature Communications

Shared heritability and functional enrichment across six solid cancers

Somatic BRAF-V600E Mutations in Familial Colorectal Cancer

Sublocalization of a locus at 3p21.3?23 predisposing to hereditary nonpolyposis colon cancer

scientific article published on 01 August 1994

Suspected HNPCC and Amsterdam criteria II: evaluation of mutation detection rate, an international collaborative study

scientific article published in March 2002

TGFBR1 variants TGFBR1(*)6A and Int7G24A are not associated with an increased familial colorectal cancer risk

scientific article published on 28 April 2009

TGFBR1(*)6A and Int7G24A variants of transforming growth factor-beta receptor 1 in Swedish familial and sporadic breast cancer

scientific article published on 11 September 2007

TP53-based interaction analysis identifies cis-eQTL variants for TP53BP2, FBXO28, and FAM53A that associate with survival and treatment outcome in breast cancer

scientific article published on 5 February 2017

The APC gene I1307K variant is rare in Norwegian patients with familial and sporadic colorectal or breast cancer ⬇️

scientific article published on July 15, 1998

The BRCA1 exon 13 duplication in the Swedish population

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

scientific article published on 20 February 2018

The MLH1 c.1852_1853delinsGC (p.K618A) variant in colorectal cancer: genetic association study in 18,723 individuals

scientific article

The SNP rs6500843 in 16p13.3 is associated with survival specifically among chemotherapy-treated breast cancer patients

scientific article published on April 2015

The added value of PMS2 immunostaining in the diagnosis of hereditary nonpolyposis colorectal cancer

The biology of inherited cancer.

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The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations

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The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers

scientific article published on 25 June 2015

The estrogen receptor alpha C975G variant in familial and sporadic breast cancer: a case-control study.

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The gynecological surveillance of women with Lynch syndrome in Sweden

scientific article published on 12 July 2015

The inframe MSH2 codon 596 deletion is linked with HNPCC and associated with lack of MSH2 protein in tumours

scientific article published on 01 January 2003

The reliability of immunohistochemistry as a prescreening method for the diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC)--results of an international collaborative study

scientific article published on January 1, 2001

The role of KRAS rs61764370 in invasive epithelial ovarian cancer: implications for clinical testing

scientific article published on 8 March 2011

The role of ataxia-telangiectasia heterozygotes in familial breast cancer ⬇️

scientific article published on 01 April 1998

The role of genetic breast cancer susceptibility variants as prognostic factors

scientific article

The role of hMLH3 in familial colorectal cancer ⬇️

scientific article published on April 15, 2003

The role of hPMS1 and hPMS2 in predisposing to colorectal cancer ⬇️

scientific article published on 01 November 2001

The use of intragenic polymorphisms in determination of the genomic relevance of whole-exon deletions in MLH1 and MSH2

scientific article published on 01 March 2001

The use of telephone in genetic counseling versus in-person counseling: a randomized study on counselees' outcome

scientific article

Tumor-associated zinc finger mutations in the CTCF transcription factor selectively alter tts DNA-binding specificity

scientific article (publication date: 2002)

Tumorigenesis in colorectal tumors from patients with hereditary non-polyposis colorectal cancer

scientific article published on 8 October 1997

Tumour spectrum in non-BRCA hereditary breast cancer families in Sweden

scientific article published on 16 June 2015

Variants of the PPARD gene and their clinicopathological significance in colorectal cancer

scientific article

Various mutation screening techniques in the DNA mismatch repair genes hMSH2 and hMLH1

scientific article published on 01 January 1999

Virtual reality colonoscopy simulation: a compulsory practice for the future colonoscopist?

scientific article published on December 2005

[Experiences from a clinic for patients with hereditary cancer. Diagnosis of genetic carriers may prevent cancer]

scientific article published on 01 May 1995

[The first breast cancer gene isolated. Safer risk assessment for affected families]

scientific article published on 01 January 1995

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