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List of works by David Goldgar

10-year performance of four models of breast cancer risk: a validation study

scientific article published on 21 February 2019

A 23-year-old woman with Down syndrome, type 1 neurofibromatosis, and breast carcinoma

scientific article published on 01 February 2004

A 45-year follow-up of kindred 107 and the search for BRCA2

scientific article published on 01 January 1995

A Large Kindred With 17q-Linked Breast and Ovarian Cancer: Genetic, Phenotypic, and Genealogical Analysis

scientific article published on 01 February 1994

A PALB2 mutation associated with high risk of breast cancer

scientific article

A Randomized Trial of the Off-label Use of Imiquimod, 5%, Cream With vs Without Tazarotene, 0.1%, Gel for the Treatment of Lentigo Maligna, Followed by Conservative Staged Excisions ⬇️

scientific article published on 01 May 2012

A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk

article

A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity

scientific article published on 29 October 2012

A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients

scientific article published on 13 August 2019

A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1

scientific article

A full-likelihood method for the evaluation of causality of sequence variants from family data

scientific article

A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome

scientific article published on 03 December 2018

A genetic map of human chromosome 17p

scientific article published on 01 May 1990

A genome wide linkage search for breast cancer susceptibility genes

scientific article published on July 2006

A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype

scientific article published on 17 February 2015

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 multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry

scientific article published on 11 October 2012

A multiobserver, population-based analysis of histologic dysplasia in melanocytic nevi

scientific article published on 01 May 1994

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

scientific article published on 16 January 2020

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 polymorphic stop codon in BRCA2

scientific article published on 01 November 1996

A response to "Personalised medicine and population health: breast and ovarian cancer"

scientific article published on 27 February 2019

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

scientific article published on 3 November 2011

A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes

scientific article

A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

scientific article published on 18 June 2018

A weighted cohort approach for analysing factors modifying disease risks in carriers of high-risk susceptibility genes

scientific article published on 01 July 2005

Absence of evidence for a familial breast cancer susceptibility gene at chromosome 8p12-p22

article

Accuracy of Risk Estimates from the iPrevent Breast Cancer Risk Assessment and Management Tool

scientific article published on 19 September 2019

Acetyl-CoA carboxylase alpha gene and breast cancer susceptibility

scientific article published on 27 August 2004

Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants

scientific article

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

scientific article published in April 2007

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 initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA)

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 breast cancer susceptibility genes BRCA1 and BRCA2 in Thai familial and isolated early-onset breast and ovarian cancer

scientific article published on 01 September 2002

Analysis of discrete phenotypes using a multipoint identity-by-descent method: application to Alzheimer's disease

scientific article published on January 1993

Anatomic variability in superficial blood vessel and lymphatic vessel density

scientific article published on 19 May 2010

Ancestral founder of mutation W283X in the porphobilinogen deaminase gene among acute intermittent porphyria patients.

scientific article

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

scientific article

Are ATM mutations 7271T-->G and IVS10-6T-->G really high-risk breast cancer-susceptibility alleles?

scientific article published in February 2004

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

scientific article

Assessing biases of information contained in pedigrees for the classification of BRCA-genetic variants: a study arising from the ENIGMA analytical working group

scientific article published on 30 April 2016

Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group

scientific article published on November 2008

Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants

scientific article published on 23 August 2019

Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches

scientific article published on 17 January 2018

Assignment of a locus for familial melanoma, MLM, to chromosome 9p13-p22

scientific article published on November 13, 1992

Association analysis identifies 65 new breast cancer risk loci.

scientific article published on 23 October 2017

Association between IL13 polymorphisms and psoriatic arthritis is modified by smoking.

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 Between Cancer Predisposition Testing Panel Genes and Breast Cancer

scientific article published on 13 April 2017

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

Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis

article by Xiang Shu et al published 1 October 2018 in International Journal of Epidemiology

BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2

scientific article published on 26 December 2018

BRCA phenocopies or ascertainment bias?

scientific article published in August 2007

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

scientific article published on August 2012

BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding

scientific article published on 24 September 2018

BRCA1 and BRCA2 in Indian breast cancer patients

scientific article published on 01 December 2002

BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico

scientific article published on 01 December 2002

BRCA1 and BRCA2 sequence variants in Chinese breast cancer families

scientific article published on 01 December 2002

BRCA1 wild-type allele modifies risk of ovarian cancer in carriers of BRCA1 germ-line mutations

scientific article published on 01 February 2003

BRCA1/2 Sequence Variants of Uncertain Significance: A Primer for Providers to Assist in Discussions and in Medical Management ⬇️

scientific article published on April 24, 2013

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

Bayes analysis provides evidence of pathogenicity for the BRCA1 c.135-1G>T (IVS3-1) and BRCA2 c.7977-1G>C (IVS17-1) variants displaying in vitro splicing results of equivocal clinical significance

scientific article

Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer

scientific article published on 26 December 2012

Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk

scientific article published on 28 September 2020

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

scientific article published on 11 January 2022

Breast cancer risk inBRCA1 andBRCA2 mutation carriers and polyglutamine repeat length in theAIB1 gene

article

Breast cancer risk prediction using a polygenic risk score in the familial setting: a prospective study from the Breast Cancer Family Registry and kConFab

scientific article published on 12 May 2016

Breast cancer risk reduction associated with the RAD51 polymorphism among carriers of the BRCA1 5382insC mutation in Poland ⬇️

scientific article published on 01 May 2003

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

scientific article

Breast-Cancer Risk in Families With Mutations in PALB2

Breast-cancer risk in families with mutations in PALB2

scientific article

CGH-targeted linkage analysis reveals a possible BRCA1 modifier locus on chromosome 5q

article

COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration

scientific article published on 21 June 2013

Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions

scientific article

Can Unknown Predisposition in Familial Breast Cancer be Family-Specific? ⬇️

scientific article published on June 26, 2013

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

scientific article published on 16 December 2019

Cancer Risks Associated With and Pathogenic Variants

scientific article published on 10 May 2022

Cancer Risks in Two Large Breast Cancer Families Linked to BRCA2 on Chromosome 13q12‐13 ⬇️

scientific article published on July 1, 1997

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

scientific article

Cannabis, tobacco and domestic fumes intake are associated with nasopharyngeal carcinoma in North Africa

scientific article published on September 2009

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members

scientific article published on 19 July 2011

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

Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling

scientific article published on December 2006

Chiasma-based models of multilocus recombination: increased power for exclusion mapping and gene ordering

scientific article published in August 1989

Chromosome 17q linkage studies of 18 Utah breast cancer kindreds.

scientific article

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

scientific article published on 25 September 2008

Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs.

scientific article

Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications.

scientific article published on November 2008

Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort

scientific article published on 19 December 2019

Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics

scientific article published on May 2009

Clinical Classification ofBRCA1andBRCA2DNA Sequence Variants: The Value of Cytokeratin Profiles and Evolutionary Analysis—A Report From the kConFab Investigators

article

Clinical variability of type 1 neurofibromatosis: is there a neurofibromatosis-Noonan syndrome? ⬇️

scientific article published on March 1, 1992

Cohort Profile: The Breast Cancer Prospective Family Study Cohort (ProF-SC)

scientific article published on 13 July 2015

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 BRCA2 variants and modification of breast and ovarian cancer risk in BRCA1 mutation carriers

scientific article published on 01 January 2005

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 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

Comparing Five-Year and Lifetime Risks of Breast Cancer in the Prospective Family Study Cohort

scientific article published on 10 December 2020

Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations

scientific article published on June 1996

Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models

scientific article published on 08 June 2018

Considerations in assessing germline variant pathogenicity using cosegregation analysis

scientific article published on 10 August 2020

Considerations when using breast cancer risk models for women with negative BRCA1/BRCA2 mutation results

scientific article published on 04 October 2019

Continuing Dermatology Education for Rural Physician Assistants in Ghana: An Assessment of Needs and Effectiveness

scientific article published in March 2018

Contribution of Germline Predisposition Gene Mutations to Breast Cancer Risk in African American Women

scientific article published on 19 May 2020

Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India

scientific article

Contribution of large genomic BRCA1 alterations to early-onset breast cancer selected for family history and tumour morphology: a report from The Breast Cancer Family Registry

scientific article

Correction to: Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers

scientific article published on 26 February 2020

DNA methylation profiling to assess pathogenicity of BRCA1 unclassified variants in breast cancer

scientific article published on 4 January 2016

Design considerations for massively parallel sequencing studies of common familial cancers

Design considerations for massively parallel sequencing studies of complex human disease

scientific article

Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity

scientific article

Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis

scientific article

Dietary risk factors for nasopharyngeal carcinoma in Maghrebian countries

scientific article published on October 2007

Differences in patient ascertainment affect the use of gene-specified ACMG/AMP phenotype-related variant classification criteria: Evidence for TP53

scientific article published on 16 January 2020

ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes

scientific article published on 3 November 2011

Early exploration of two candidate breast cancer susceptibility genes identified by whole-exome sequencing.

scientific article

Effect of chest X-rays on the risk of breast cancer among BRCA1/2 mutation carriers in the international BRCA1/2 carrier cohort study: a report from the EMBRACE, GENEPSO, GEO-HEBON, and IBCCS Collaborators' Group

scientific article published on 26 June 2006

Estimation of the RNU2 macrosatellite mutation rate by BRCA1 mutation tracing

scientific article

Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer

scientific article published on 11 August 2006

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

scientific article

Evaluation of linkage of breast cancer to the putative BRCA3 locus on chromosome 13q21 in 128 multiple case families from the Breast Cancer Linkage Consortium

scientific article

Evidence against the reported linkage of the cutaneous melanoma-dysplastic nevus syndrome locus to chromosome Ip36.

scientific article

Evidence for interaction between the TCO and NMTC1 loci in familial non-medullary thyroid cancer.

scientific article

Exploring the link between MORF4L1 and risk of breast cancer

scientific article

Exposure to diagnostic radiation and risk of breast cancer among carriers of BRCA1/2 mutations: retrospective cohort study (GENE-RAD-RISK).

scientific article

FAN1 variants identified in multiple-case early-onset breast cancer families via exome sequencing: no evidence for association with risk for breast cancer

scientific article

FAVR (Filtering and Annotation of Variants that are Rare): methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets

scientific article published on 25 February 2013

Familial nontoxic multinodular thyroid goiter locus maps to chromosome 14q but does not account for familial nonmedullary thyroid cancer

scientific article

Familial prostate cancer: the damage done and lessons learnt

scientific article published on 15 January 2013

Familiality of cancer in Utah

scientific article published on 01 May 1994

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

scientific article

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

Frequency of mutations in a large series of clinically ascertained ovarian cancer cases tested on multi-gene panels compared to reference controls.

scientific article published on 7 September 2017

Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making

scientific article

Functional assays for classification of BRCA2 variants of uncertain significance

scientific article

Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.

scientific article published on 02 March 2016

Functional evaluation and cancer risk assessment of BRCA2 unclassified variants

article by William Ka-Kei Wu et al published 1 January 2005 in Cancer Research

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

scientific article published on 7 September 2016

G1738R is a BRCA1 founder mutation in Greek breast/ovarian cancer patients: evaluation of its pathogenicity and inferences on its genealogical history

article published in 2007

Gene-panel sequencing and the prediction of breast-cancer risk

scientific article

Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) C

scientific article published on 26 October 2018

Genetic analysis of NF1: identification of close flanking markers on chromosome 17.

scientific article published on December 1987

Genetic and Histopathologic Evaluation ofBRCA1andBRCA2DNA Sequence Variants of Unknown Clinical Significance

article

Genetic evidence and integration of various data sources for classifying uncertain variants into a single model

scientific article

Genetic heterogeneity in familial nonmedullary thyroid carcinoma: exclusion of linkage to RET, MNG1, and TCO in 56 families. NMTC Consortium

scientific article

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

scientific article

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

article

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 in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

scientific article (publication date: 2013)

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

scientific article published on 21 February 2019

Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways

scientific article

Genomewide high-density SNP linkage analysis of non-BRCA1/2 breast cancer families identifies various candidate regions and has greater power than microsatellite studies

scientific article

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

scientific article published on 16 June 2020

HLA-linked hemochromatosis alleles in sporadic porphyria cutanea tarda

scientific article published on October 1989

HMB-45 staining of dysplastic melanocytic nevi in melanoma risk groups

scientific article published on August 1991

Haplotype analysis and ancient origin of the BRCA1 c.4035delA Baltic founder mutation.

scientific article published on 27 December 2012

Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations

scientific article published on 4 July 2012

Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain

scientific article

Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study

scientific article published in February 1996

Haplotype tagging single nucleotide polymorphisms and association studies.

scientific article published in January 2003

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study

scientific article published on 01 April 2019

Heritable DNA methylation marks associated with susceptibility to breast cancer

scientific article published on 28 February 2018

High-density genetic and physical mapping of DNA markers near the X-linked Alport syndrome locus: definition and use of flanking polymorphic markers ⬇️

scientific article published on December 1, 1991

Histopathologic characteristics of dysplastic nevi. Limited association of conventional histologic criteria with melanoma risk group

scientific article published in May 1990

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

scientific article

Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?

scientific article

Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk

scientific article published on 27 March 2013

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 new breast cancer predisposition genes via whole exome sequencing

scientific article published on 12 April 2012

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

scientific article published on 12 January 2015

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

scientific article published on 23 October 2017

Immunohistochemical staining with Melan-A of uninvolved sun-damaged skin shows features characteristic of lentigo maligna

scientific article published on 29 March 2011

Increased Risk for Nonmedullary Thyroid Cancer in the First Degree Relatives of Prevalent Cases of Nonmedullary Thyroid Cancer: A Hospital-Based Study

article

Increased power for case-control studies of single nucleotide polymorphisms through incorporation of family history and genetic constraints

scientific article

Influence of the family cluster effect on psychosocial variables in families undergoing BRCA1/2 genetic testing for cancer susceptibility

scientific article published on 2 March 2011

Inheritance of nevus number and size in melanoma and dysplastic nevus syndrome kindreds

scientific article

Inheritance of nevus number and size in melanoma/DNS kindreds ⬇️

scientific article published on January 1, 1992

Inheritance of proliferative breast disease in breast cancer kindreds

scientific article

Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2

scientific article

Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance

scientific article published on 22 October 2020

Interobserver concordance in discriminating clinical atypia of melanocytic nevi, and correlations with histologic atypia

scientific article published on April 1996

Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer

scientific article

Is MSH2 a breast cancer susceptibility gene?

scientific article published on 6 October 2007

Is RNASEL:p.Glu265* a modifier of early-onset breast cancer risk for carriers of high-risk mutations?

scientific article published on 8 February 2018

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

Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype

scientific article published in October 2003

Likelihood ratios to assess genetic evidence for clinical significance of uncertain variants: hereditary hemorrhagic telangiectasia as a model

scientific article published on 8 April 2008

Linkage analysis of complex diseases using microsatellites and single-nucleotide polymorphisms: application to alcoholism

scientific article published on 30 December 2005

Localization of a susceptibility gene for familial nonmedullary thyroid carcinoma to chromosome 2q21

scientific article

Localization of the 9p Melanoma Susceptibility Locus (MLM) to a 2-cM Region between D9S736 and D9S171

article

Low-dose ionizing radiation significantly increases the risk of breast cancer among BRCA1/2 mutation carriers in the International BRCA1/2 Carrier Cohort Study (IBCCS).

scientific article

Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations

scientific article (publication date: May 2002)

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

scientific article

Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results

scientific article published on 22 December 2016

Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

scientific article published on 19 June 2019

Mendelian randomisation study of smoking exposure in relation to breast cancer risk

scientific article published in October 2021

Models of multilocus recombination: nonrandomness in chiasma number and crossover positions.

scientific article

Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadian breast/ovarian cancer families

article

More on Co-Occurrence of COMT and BRCA1/2 Variants in a Population.

scientific article published in August 2017

Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation

scientific article published on 28 January 2014

Multigene Hereditary Cancer Panels Reveal High-Risk Pancreatic Cancer Susceptibility Genes

scientific article published on 25 July 2018

Multigene testing of moderate-risk genes: be mindful of the missense

scientific article

Multiple Loci within the major histocompatibility complex confer risk of psoriasis

scientific article published on 14 August 2009

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

Multipoint genomic scanning for quantitative loci: effects of map density, sibship size and computational approach

scientific article published in February 1999

Mutation prevalence tables for hereditary cancer derived from multi-gene panel testing

scientific article published on 22 May 2020

Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry

scientific article

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

scientific article published on 15 February 2018

No Evidence of BRCA1/2 genomic rearrangements in high-risk French-Canadian breast/ovarian cancer families

scientific article published on 01 January 2006

No evidence that CDKN1B (p27) polymorphisms modify breast cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article published on 10 June 2008

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

Nonparametric Linkage Analysis

Number, size, and histopathology of nevi in Utah kindreds

scientific article published in January 1992

Obesity in early adulthood as a risk factor for psoriatic arthritis

scientific article published in July 2010

On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations

scientific article

Optimal strategies for mapping complex diseases in the presence of multiple loci

scientific article

Oral Contraceptive Use and Breast Cancer Risk: Retrospective and Prospective Analyses From a BRCA1 and BRCA2 Mutation Carrier Cohort Study

scientific article published on 01 April 2018

Oral contraceptives and breast cancer risk in the International BRCA1/2 Carrier Cohort Study (IBCCS)

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

Ovarian cancer risk in BRCA1 carriers is modified by the HRAS1 variable number of tandem repeat (VNTR) locus

scientific article published on 01 March 1996

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

Pancreatic cancer and a novel MSH2 germline alteration

scientific article

Pancreatic cancer as a sentinel for hereditary cancer predisposition.

scientific article

Panel sequencing of 264 candidate susceptibility genes and segregation analysis in a cohort of non-BRCA1, non-BRCA2 breast cancer families.

scientific article

Partnering in oncogenetic research--the INHERIT BRCAs experience: opportunities and challenges

scientific article

Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach

scientific article

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

Penetrance and expressivity of the chromosome 9p melanoma susceptibility locus (MLM)

scientific article published on 01 December 1994

Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant

scientific article

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

scientific article

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

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

scientific article

Pregnancies, breast-feeding, and breast cancer risk in the International BRCA1/2 Carrier Cohort Study (IBCCS)

scientific article

Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families

scientific article published on 28 February 2013

Prevalence of the BRCA2 6174 del T mutation in Israeli uveal melanoma patients

scientific article published on 01 March 2002

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

scientific article published on 23 September 2019

Racial and ethnic differences in multigene hereditary cancer panel test results for women with breast cancer

scientific article published on 04 November 2020

Radiation treatment, ATM, BRCA1/2, and CHEK2*1100delC pathogenic variants, and risk of contralateral breast cancer

scientific article published on 02 March 2020

Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis

scientific article

Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study

scientific article

Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers

scientific article

Rare mutations in XRCC2 increase the risk of breast cancer

scientific article (publication date: 6 April 2012)

Rare variants in the ATM gene and risk of breast cancer

scientific article published on 25 July 2011

Rate of Recurrence of Lentigo Maligna Treated With Off-Label Neoadjuvant Topical Imiquimod, 5%, Cream Prior to Conservatively Staged Excision.

scientific article

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

Refined physical and genetic mapping of the NF1 region on chromosome 17

scientific article

Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree

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

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Response: Table 1

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Risk of pancreatic cancer in breast cancer families from the breast cancer family registry

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Risk-Reducing Oophorectomy and Breast Cancer Risk Across the Spectrum of Familial Risk

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Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers

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

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Risks of cancer due to a single BRCA1 mutation in an extended Utah kindred

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Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium

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Role of CHEK2*1100delC in unselected series of non-BRCA1/2 male breast cancers

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Screening for linkage using a multipoint identity-by-descent method

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Second primary breast cancer in BRCA1 and BRCA2 mutation carriers: 10-year cumulative incidence in the Breast Cancer Family Registry

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Shared heritability and functional enrichment across six solid cancers

scientific article published in Nature Communications

Shared heritability and functional enrichment across six solid cancers

Specific haplotypes of the RET proto-oncogene are over-represented in patients with sporadic papillary thyroid carcinoma.

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Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary

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Survival and histopathologic characteristics of human melanocytic nevi transplanted to athymic (nude) mice.

scientific article published in August 1995

Systematic Population-Based Assessment of Cancer Risk in First-Degree Relatives of Cancer Probands

scientific article published on 01 November 1994

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

scientific article published on 05 August 2013

Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families

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The BARD1 Cys557Ser polymorphism and breast cancer risk: an Australian case-control and family analysis

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

scientific article published on 20 February 2018

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

scientific article published on 01 November 2019

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

The M53I mutation in CDKN2A is a founder mutation that predominates in melanoma patients with Scottish ancestry

scientific article published on 01 March 2007

The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers

scientific article published on 03 October 2016

The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%

The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds

scientific article published on March 1996

The contribution of germline predisposition gene mutations to clinical subtypes of invasive breast cancer from a clinical genetic testing cohort

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The effect of disease penetrance, family size, and age of onset on family history with application to setting eligibility criteria for genetic testing

scientific article published on January 1, 2003

The genetics of familial breast cancer and their practical implications

scientific article published on January 1994

The performance of MIM in comparison with MAPMAKER/SIBS to detect QTLs ⬇️

scientific article published on 01 January 1997

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

scientific article published on 8 March 2011

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

scientific article published on 01 March 2020

Trend-TDT - a transmission/disequilibrium based association test on functional mini/microsatellites.

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Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing

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Tumour morphology predicts PALB2 germline mutation status

scientific article published on 20 June 2013

Two ATM variants and breast cancer risk

scientific article published in June 2005

Two truncating variants in FANCC and breast cancer risk

scientific article published on 29 August 2019

Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles

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XRCC1 and hOGG1 genes and risk of nasopharyngeal carcinoma in North African countries

scientific article published on 22 April 2011

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