E. García

发表

Characterisation of unclassified variants in the BRCA1/2 genes with a putative effect on splicing

R. Brandão, M. Blok, K. V. Roozendaal, 2011, Breast Cancer Research and Treatment.

Epidemiology Ovarian stimulation for IVF and risk of primary breast cancer in BRCA 1 / 2 mutation carriers

J. Oosterwijk, C. J. Asperen, M. Ausems, 2018 .

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

Jane E. Carpenter, Jaana M. Hartikainen, W. Chung, 2019, Nature Genetics.

Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of lynch syndrome patients

A. Green, P. Devilee, A. Wagner, 2010, Human mutation.

Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.

Jaana M. Hartikainen, M. Beckmann, P. Fasching, 2021, The New England journal of medicine.

SNP association study in PMS2-associated Lynch syndrome

E. Steyerberg, A. Wagner, T. van Wezel, 2017, Familial Cancer.

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

Jane E. Carpenter, Jack A. Taylor, W. Chung, 2019, Nature Genetics.

University of Groningen A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history Garcia,

P. Devilee, A. Ouweland, M. Blok, 2015 .

UvA-DARE ( Digital Academic Repository ) A method to assess the clinical significance of unclassified variants in the BRCA 1 and BRCA 2 genes based on cancer family history

P. Devilee, A. Ouweland, M. Blok, 2009 .

University of Groningen Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk Couch,

F. Couch, B. Bonanni, O. Olopade, 2013 .

Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis

A. Wagner, H. Morreau, T. van Wezel, 2013, Journal of Medical Genetics.

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

Christiana Kartsonaki, Mads Thomassen, Julian Peto, 2010, Nature Genetics.

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

S. Cross, M. Beckmann, P. Fasching, 2018, Human mutation.

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

A. Spurdle, Å. Borg, P. Devilee, 2017, Journal of Medical Genetics.

University of Groningen DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers Osorio,

Rensburg, A. Whittemore, D. Steinemann, 2014 .

Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome

P. Devilee, C. Asperen, S. Verhoef, 2016, Human mutation.

The counselees' self‐reported request for psychological help in genetic counseling for hereditary breast/ovarian cancer: not only psychopathology matters

C. Asperen, J. Oosterwijk, A. Tibben, 2013, Psycho-oncology.

q 31 . 2 and in ZNF 365 are associated with breast cancer risk for BRCA 1 and / or BRCA 2 mutation carriers

V. Pankratz, F. Couch, B. Bonanni, 2012 .

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

Mads Thomassen, Nina Ditsch, Muhammad Usman Rashid, 2015, JAMA.

Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP)

E. Kuipers, J. Houwing-Duistermaat, T. Reinards, 2005, Journal of Medical Genetics.

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing

L. Vissers, A. Hoischen, J. Lupski, 2017, European Journal of Human Genetics.

Ovarian stimulation for IVF and risk of primary breast cancer in BRCA1/2 mutation carriers

C. V. van Asperen, J. Oosterwijk, C. J. Asperen, 2018, British Journal of Cancer.

SNP association study in PMS2-associated Lynch syndrome

E. Steyerberg, A. Wagner, C. Tops, 2017, Familial Cancer.

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

Julie O. Culver, L. Kiemeney, M. Kloor, 2011, The Lancet. Oncology.

Efficiency of BRCAPRO and Myriad II mutation probability thresholds versus cancer history criteria alone for BRCA1/2 mutation detection

M. Zeegers, R. Brandão, A. Paulussen, 2009, Familial Cancer.

Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility

A. Jakubowska, J. Lubiński, A. Wagner, 2018, Journal of Medical Genetics.

Is colorectal surveillance indicated in patients with PTEN mutations?

A. Spigelman, N. Lindor, P. Möller, 2012, Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland.

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

A. Whittemore, F. Couch, B. Bonanni, 2015 .

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

H. Meijers-Heijboer, C. Asperen, S. Verhoef, 2010, Journal of Medical Genetics.

Impact of Two Functional Progesterone Receptor Polymorphisms (PRP): +331G/A and PROGINS on the Cancer Risks in Familial Breast/Ovarian Cancer

R. Brandão, M. Blok, A. Romano, 2007 .