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List of works by Anne-Marie Gerdes

A BAP1 mutation in a Danish family predisposes to uveal melanoma and other cancers

scientific article

A BRCA2 mutation incorrectly mapped in the original BRCA2 reference sequence, is a common West Danish founder mutation disrupting mRNA splicing

scientific article published on 24 December 2010

A Missense Mutation in Exon 13 in BRCA2, c.7235G>A, Results in Skipping of Exon 13

scientific article published on 01 January 2006

A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma

scientific article published in October 2012

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

scientific article

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 novel DICER1 mutation identified in a female with ovarian Sertoli-Leydig cell tumor and multinodular goiter: a case report

scientific article published on 3 April 2014

A putative Lynch syndrome family carrying MSH2 and MSH6 variants of uncertain significance—functional analysis reveals the pathogenic one

scientific article published on 01 September 2011

A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma

scientific article

A scandinavian case of isovaleric acidaemia

scientific article published on 01 January 1988

Alcohol Consumption, Cigarette Smoking, and Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Results from The BRCA1 and BRCA2 Cohort Consortium

scientific article published on 02 December 2019

An international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers

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

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

scientific article

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

scientific article published on 13 November 2019

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

scientific article

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

scientific article

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

scientific article published on 31 December 2014

Awareness of endometrial cancer risk and compliance with screening in hereditary nonpolyposis colorectal cancer

scientific article published in November 2012

BRCA1 and BRCA2 mutations in Danish families with hereditary breast and/or ovarian cancer

scientific article published in January 2008

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

scientific article

Biomedical informatics as support to individual healthcare in hereditary colon cancer: the Danish HNPCC system

scientific article

Blocking protein quality control to counter hereditary cancers

scientific article published on 4 August 2017

CDKN2A-mutation in a family with hereditary malignant melanoma ⬇️

scientific article published in September 2014

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

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

scientific article published on 02 July 2020

Chromosome abnormalities in benign hyperproliferative disorders of epithelial and stromal breast tissue

scientific article published on 01 January 1995

Chromosome abnormalities in bilateral breast carcinomas. Cytogenetic evaluation of the clonal origin of multiple primary tumors.

scientific article published on July 1995

Classification of the spliceogenic BRCA1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier

scientific article

Classifications within molecular subtypes enables identification of BRCA1/BRCA2 mutation carriers by RNA tumor profiling

scientific article

Clinical and molecular characterization of BRCA-associated breast cancer: results from the DBCG.

scientific article published on 22 November 2017

Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark

scientific article

Clinical expression of Menkes syndrome in females

scientific article published on 01 December 1990

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 breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.

scientific article published on 2 November 2011

Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

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 at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article published on 20 February 2012

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article published on 05 August 2009

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

scientific article

Congenital myopathy with fiber type disproportion: a family with a chromosomal translocation t(10;17) may indicate candidate gene regions

article

Correlation between molecular genetic analyses and immunohistochemical evaluation of the epidermal growth factor receptor and p185HER2

scientific article published on July 1, 1998

Cost-effectiveness of surveillance programs for families at high and moderate risk of hereditary non-polyposis colorectal cancer

scientific article published on 01 January 2007

Cowden Syndrome and Concomitant Pulmonary Neuroendocrine Tumor: A Presentation of Two Cases

scientific article published on 22 December 2015

Current perspectives on recommendations for BRCA genetic testing in ovarian cancer patients

scientific article published on 4 November 2016

Cytogenetic abnormalities in anin situ ductal carcinoma and five prophylactically removed breasts from members of a family with hereditary breast cancer

scientific article published on 01 January 1996

DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4.

scientific article published on 14 December 2015

Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents

scientific article published on 24 June 2015

Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD).

scientific article published on 15 April 2014

Disease pattern in Danish patients with Peutz-Jeghers syndrome.

scientific article

Disrupted p53 function as predictor of treatment failure and poor prognosis in B- and T-cell non-Hodgkin's lymphoma

scientific article published on 01 May 1999

Effect of increased gene dosage expression on the α-interferon receptors in Down's syndrome

article

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

scientific article

Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA).

scientific article

Evaluation of two different models to predict BRCA1 and BRCA2 mutations in a cohort of Danish hereditary breast and/or ovarian cancer families.

scientific article published in February 2006

Exploring the hereditary background of renal cancer in Denmark

scholarly article by Maria Bejerholm Christensen et al published 2019 in PLOS ONE

Familial pancreatic cancer

scientific article published on 01 January 2008

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

scientific article

First-trimester diagnosis of menkes disease: Intermediate copper values in chorionic villi from three affected male fetuses

scientific article published on 01 March 1989

Frequent disruption of the RB1 pathway in diffuse large B cell lymphoma: prognostic significance of E2F-1 and p16INK4A.

scientific article published in May 2000

Functional Significance and Clinical Phenotype of Nontruncating Mismatch Repair Variants of MLH1

scientific article published in August 2005

Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families

scientific article published on February 2001

Functional characterization of BRCA1 gene variants by mini-gene splicing assay

scientific article

Functional characterization of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patients.

scientific article published on 21 August 2009

Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients

scientific article

Gene dosage and down-regulation of the α-interferon receptor

article

Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation

scientific article published on 13 October 2016

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

scientific article

Genetic, epidemiological, and clinical aspects of hereditary pancreatitis: a population-based cohort study in Denmark

scientific article published on 25 May 2010

Genome sequencing--clinical use

scientific article published in March 2013

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

scientific article (publication date: 2013)

Germline RAD51B truncating mutation in a family with cutaneous melanoma

scientific article published on 01 June 2015

Germline TERT promoter mutations are rare in familial melanoma ⬇️

scientific article published on 3 October 2015

Germline variation at CDKN2A and associations with nevus phenotypes among members of melanoma families. ⬇️

scientific article

HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1.

scientific article

Hereditary breast cancer: clinical, pathological and molecular characteristics

scientific article

High accuracy of family history of melanoma in Danish melanoma cases

scientific article published on 21 June 2015

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

scientific article

Identification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations

scientific article

Identification of a breast cancer family double heterozygote for RAD51C and BRCA2 gene mutations

article

Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients

scientific article published on 08 June 2016

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

scientific article published on 27 April 2016

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

scientific article published on 12 January 2015

Identification of six pathogenic RAD51C mutations via mutational screening of 1228 Danish individuals with increased risk of hereditary breast and/or ovarian cancer

scientific article

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

scientific article published on 23 October 2017

Incidence, etiology and prognosis of first-time acute pancreatitis in young patients: a population-based cohort study

scientific article published on 19 August 2010

Incidence, prevalence, etiology, and prognosis of first-time chronic pancreatitis in young patients: a nationwide cohort study

scientific article published on 28 January 2010

Increased IFN-alpha-induced sensitivity but reduced reactivity of 2',5'-oligoadenylate synthetase (2,5AS) in trisomy 21 blood lymphocytes.

scientific article

Increased Vigilance and Dopamine Synthesis by Large Doses of Tyrosine or Phenylalanine Restriction in Phenylketonuria

scientific article published on 01 July 1987

Increased neurotransmitter biosynthesis in phenylketonuria induced by phenylalanine restriction or by supplementation of unrestricted diet with large amounts of tyrosine

scientific article published on 01 December 1988

Interferon Stimulates the Expression of 2′,5′ -Oligoadenylate Synthetase and MHC Class I Antigens in Insulin-Producing Cells

scientific article published on 01 October 1991

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation

scientific article published on 22 July 2010

Intragenic duplication: a novel mutational mechanism in hereditary pancreatitis

scientific article

Is DBCG abreast of new developments?

scientific article published on 3 January 2018

Is screening for pancreatic cancer in high-risk groups cost-effective? - Experience from a Danish national screening program

scientific article

Is the SPINK1 variant p.N34S overrepresented in patients with acute pancreatitis?

scientific article published in March 2012

JP-HHT phenotype in Danish patients with SMAD4 mutations.

scientific article published on 17 November 2015

LEOPARD syndrome

scientific article published in January 2009

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

scientific article published on 01 September 2019

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 BRCA2 in a ductal carcinoma in situ and three invasive breast carcinomas in a family with a germline BRCA2 mutation

scientific article published on 01 October 2004

Low frequency of large genomic rearrangements of BRCA1 and BRCA2 in western Denmark

scientific article published in July 2006

Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population.

scientific article published on 20 June 2008

Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.

scientific article

Medullary thyroid cancer: RET testing of an archival material

scientific article published on 13 October 2009

Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer

scientific article

Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition

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

Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.

scientific article

Multiple self-healing squamous epithelioma of Ferguson-Smith: observations in a Danish family covering four generations

scientific article published in January 2008

Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

scientific article published on 15 February 2018

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

scientific article published in May 2015

Novel germline c-MET mutation in a family with hereditary papillary renal carcinoma.

scientific article

Oral contraceptives and breast cancer risk in the international BRCA1/2 carrier cohort study: a report from EMBRACE, GENEPSO, GEO-HEBON, and the IBCCS Collaborating Group

scientific article

Organochlorines, p53 mutations in relation to breast cancer risk and survival. A Danish cohort-nested case-controls study

scientific article published in January 2002

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

scientific article

POLE mutations in families predisposed to cutaneous melanoma

scientific article published on 7 August 2015

Pallister-Killian syndrome: Multiband FISH of tetrasomy 12p.

scientific article published in July 2006

Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein

scientific article published on 22 August 2006

Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

scientific article published on 5 December 2011

Pediatric cancer families’ participation in whole-genome sequencing research in Denmark: Parent perspectives

scientific article published on 17 July 2018

Phenotypic and Histopathological Tumor Characteristics According to CDKN2A Mutation Status among Affected Members of Melanoma Families

scientific article published on 28 January 2016

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

scientific article published on 15 July 2020

Prophylactic total gastrectomy in hereditary diffuse gastric cancer: identification of two novel CDH1 gene mutations-a clinical observational study

scientific article published in June 2014

RNA profiling reveals familial aggregation of molecular subtypes in non-BRCA1/2 breast cancer families

scientific article published on 31 January 2014

Reproductive and hormonal factors, and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: results from the International BRCA1/2 Carrier Cohort Study

scientific article

Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers

scientific article published on June 2017

Screening of 1331 Danish breast and/or ovarian cancer families identified 40 novel BRCA1 and BRCA2 mutations

scientific article published in June 2011

Separate estimation of biological and analytical variance components when quantities and reagents are unstable

scientific article published on 01 October 1995

Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers

scientific article published on 05 August 2013

Tetrahydrobiopterin and Parkinson's disease

scientific article published on 01 June 1989

The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

scientific article published on 10 May 2017

The Influence of Number and Timing of Pregnancies on Breast Cancer Risk for Women With or Mutations

The importance of functional testing in the genetic assessment of Muir-Torre syndrome, a clinical subphenotype of HNPCC

scientific article published on 01 January 2006

The results of gynecologic surveillance in families with hereditary nonpolyposis colorectal cancer

scientific article published on 13 March 2014

Variability in clinical expression of Menkes syndrome

scientific article published on 01 November 1988

Von Hippel-Lindau disease (vHL). National clinical guideline for diagnosis and surveillance in Denmark. 3rd edition

scientific article published on December 2013

[A clinic for cancer genetic counseling]

scientific article published on 01 April 1998

[A new genetic diagnosis of familiar gastrointestinal stromal tumour].

scientific article

[Clinics for counseling on cancer genetics. Experiences with genetic studies and counseling on familial breast cancer and colorectal cancer]

scientific article published on 01 February 1998

[Cowden syndrome can be a challenging diagnosis] ⬇️

[Genetic counselling in monogenic cancer syndromes]

scientific article published on 01 June 2006

[Hereditary breast cancer: treatment and prevention]

scientific article published on 01 September 2007

[Hereditary cancer syndromes]

scientific article published on 01 August 2011

[Hyperphenylalaninemia and prematurity]

scientific article published on 01 July 1986

[Inherited breast and ovarian cancers]

scientific article published on 01 June 2006

[Medical genetics and the genome] ⬇️

article

[Multiple self-healing squamous epithelioma is an inherited self-healing skin cancer condition]

scientific article published on 01 April 2012

[Press, ethics and genetic screening]

scientific article published on 01 October 2006

[The genes disposing to malignant melanoma--a systematic review].

scientific article published in February 2012

‘Indirect’ BRCA1/2 testing. A useful approach in hereditary breast and ovarian cancer families without a living affected relative

scientific article published on 01 September 2005

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