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Authors whose works are in public domain in at least one jurisdiction

List of works by Nicoline Hoogerbrugge

1-50 of 210 results

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

scientific article

Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1.

scientific article published on 21 December 2008

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

Cancer risks in BRCA2 families: estimates for sites other than breast and ovary.

scientific article published in September 2005

Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers

scientific article

Deficient mismatch repair system in patients with sporadic advanced colorectal cancer

scientific article published on January 2009

A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

scientific article

Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumors

scientific article published on 10 December 2013

Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study

scientific article published on 8 December 2010

Rare mutations in XRCC2 increase the risk of breast cancer

scientific article (publication date: 6 April 2012)

TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes

scientific article published on 01 June 2010

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

scientific article

Risks of less common cancers in proven mutation carriers with lynch syndrome

scientific article published on 22 October 2012

Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk

scientific article published on 15 December 2014

Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers

scientific article

The effect of growth hormone administration in growth hormone deficient adults on bone, protein, carbohydrate and lipid homeostasis, as well as on body composition

scientific article published on 01 July 1992

Prediction of BRCA1-association in hereditary non-BRCA1/2 breast carcinomas with array-CGH

scientific article published on 14 August 2008

BRCA1-associated breast cancers present differently from BRCA2-associated and familial cases: long-term follow-up of the Dutch MRISC Screening Study

scientific article

Common genetic variants and modification of penetrance of BRCA2-associated breast cancer

scientific article

Recurrence and variability of germline EPCAM deletions in Lynch syndrome.

scientific article published in March 2011

Germline copy number variation and cancer risk

scientific article published on 08 April 2010

Chromosome 8q23.3 and 11q23.1 variants modify colorectal cancer risk in Lynch syndrome.

scientific article published on 25 September 2008

Randomized trial of a shared decision-making intervention consisting of trade-offs and individualized treatment information for BRCA1/2 mutation carriers

scientific article published on August 2004

Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.

scientific article

EPCAM deletion carriers constitute a unique subgroup of Lynch syndrome patients

scientific article published on June 2013

High Prevalence of Premalignant Lesions in Prophylactically Removed Breasts From Women at Hereditary Risk for Breast Cancer

scientific article published on 01 January 2003

Constitutive expression of γ-H2AX has prognostic relevance in triple negative breast cancer

scientific article

CDH1-related hereditary diffuse gastric cancer syndrome: clinical variations and implications for counseling.

scientific article published on 23 October 2011

Cost effectiveness of a new strategy to identify HNPCC patients

scientific article published on January 2005

Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer.

scientific article

Breast and ovarian cancer risks in a large series of clinically ascertained families with a high proportion of BRCA1 and BRCA2 Dutch founder mutations

scientific article published on 27 November 2013

Genetic uptake in BRCA-mutation families is related to emotional and behavioral communication characteristics of index patients.

scientific article published in January 2005

Identification of candidate predisposing copy number variants in familial and early-onset colorectal cancer patients

scientific article

Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline

scientific article published on 10 December 2015

Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance

scientific article

Factors affecting sensitivity and specificity of screening mammography and MRI in women with an inherited risk for breast cancer

scientific article published on 22 June 2006

Age at menarche and menopause and breast cancer risk in the International BRCA1/2 Carrier Cohort Study

scientific article published in April 2007

A DGGE system for comprehensive mutation screening ofBRCA1andBRCA2: application in a Dutch cancer clinic setting

article

A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example

scientific article published on 29 June 2009

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

scientific article

Surveillance of women at high risk for hereditary ovarian cancer is inefficient

scientific article published on March 2006

Body weight and risk of breast cancer in BRCA1/2 mutation carriers

scientific article published on August 21, 2010

Familial gastric cancer: guidelines for diagnosis, treatment and periodic surveillance

scientific article published on September 1, 2012

Rare variants in XRCC2 as breast cancer susceptibility alleles

scientific article published on October 2012

Randomised trial of a decision aid and its timing for women being tested for a BRCA1/2 mutation.

scientific article published on January 2004

BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study.

scientific article published on 9 September 2015

Opportunities for immunotherapy in microsatellite instable colorectal cancer

scientific article

Lynch syndrome-associated extracolonic tumors are rare in two extended families with the same EPCAM deletion

scientific article published on 19 July 2011

Impact of BRCA1/2 testing and disclosure of a positive test result on women affected and unaffected with breast or ovarian cancer

scientific article published on 01 February 2004

Differences in natural history between breast cancers in BRCA1 and BRCA2 mutation carriers and effects of MRI screening-MRISC, MARIBS, and Canadian studies combined

scientific article published on 28 June 2012