B. Wappenschmidt

A. Meindl, R. Schmutzler, H. Hellebrand, 2017, European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation.

Association of the BRCA1 missense variant R1699W with a malignant phyllodes tumor of the breast.

R. Schmutzler, B. Wappenschmidt, C. Engel, 2007, Cancer genetics and cytogenetics.

Short communication Association of the BRCA1 missense variant R1699W with a malignant phyllodes tumor of the breast

R. Schmutzler, B. Wappenschmidt, C. Engel, 2007 .

Non-small cell neuroendocrine carcinoma of the ovary in a BRCA2-germline mutation carrier: A case report and brief review of the literature

R. Schmutzler, B. Wappenschmidt, E. Hahnen, 2018, Oncology letters.

Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer

F. Jessen, W. Lieb, J. Ramser, 2017, JAMA oncology.

Platinum sensitivity in a BRCA1 mutation carrier with advanced breast cancer.

A. Tutt, B. Wappenschmidt, K. Rhiem, 2009, Clinical oncology (Royal College of Radiologists (Great Britain)).

Interaction of cisplatin, paclitaxel and adriamycin with the tumor suppressor PTEN

B. Wappenschmidt, U. Göhring, T. Schöndorf, 2001, Anti-cancer drugs.

The functional genetic variant Ile646Val located in the kinase binding domain of the A-kinase anchoring protein 10 is associated with familial breast cancer.

K. Hemminki, A. Meindl, R. Schmutzler, 2006, Carcinogenesis.

A BRCA1 promoter variant (rs11655505) and breast cancer risk

J. Hopper, A. Spurdle, M. Southey, 2010, Journal of Medical Genetics.

Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

Päivi Heikkilä, Mads Thomassen, Stephen Fox, 2011, Cancer Epidemiology, Biomarkers & Prevention.

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

Stefania Tommasi, Laura Cortesi, Mads Thomassen, 2019, Cancer research.

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

D. Steinemann, F. Couch, B. Bonanni, 2020, Genetics in Medicine.

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

Jack A. Taylor, W. Chung, S. Cross, 2019, bioRxiv.

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

Michael Jones, Peter Kraft, Arnaud Droit, 2017, Nature Genetics.

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

W. Chung, R. Nussbaum, F. Couch, 2017, Journal of the National Cancer Institute.

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

R. Nussbaum, D. Steinemann, V. Pankratz, 2014, Breast Cancer Research.

Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study

V. Pankratz, F. Couch, B. Bonanni, 2012, British Journal of Cancer.

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

J. S. Hoffman, W. Chung, V. Pankratz, 2012, Human mutation.

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

Mads Thomassen, Stephen Fox, Dieter Niederacher, 2011, Breast Cancer Research.

A genetic variant in the pre-miR-27a oncogene is associated with a reduced familial breast cancer risk

P. Bugert, K. Hemminki, A. Meindl, 2010, Breast Cancer Research and Treatment.

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer

J. Ramser, A. Meindl, R. Schmutzler, 2018, Breast Cancer Research.

BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study

Alfons Meindl, Barbara Burwinkel, Peter Bugert, 2007, BMC Cancer.

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene

Dieter Niederacher, Alfons Meindl, Bertram Müller-Myhsok, 2010, Nature Genetics.

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

Jack A. Taylor, W. Chung, S. Cross, 2020 .

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

Katherine M. Tucker, Sebastian A. Wagner, Kelly J. Sullivan, 2019, Human Mutation.

Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val)

A. Spurdle, C. Lázaro, A. V. D. van den Ouweland, 2018, Breast Cancer Research and Treatment.

Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples

O. Olopade, A. Spurdle, D. Baralle, 2016, Journal of Medical Genetics.

RAD51Cdeletion screening identifies a recurrent gross deletion in breast cancer and ovarian cancer families

A. Meindl, R. Schmutzler, H. Hellebrand, 2013, Breast Cancer Research.

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

Olufunmilayo I. Olopade, Mads Thomassen, Dieter Niederacher, 2016, Breast Cancer Research.

SNPs in ultraconserved elements and familial breast cancer risk.

P. Bugert, K. Hemminki, A. Meindl, 2009, Carcinogenesis.

Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants

W. Chung, T. Fehm, T. Rebbeck, 2022, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

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

Sue Healey, Paolo Radice, Andrew Devereau, 2012, Human mutation.

Sporadic breast carcinomas with somatic BRCA1 gene deletions share genotype/phenotype features with familial breast carcinomas.

E. Wardelmann, R. Schmutzler, B. Wappenschmidt, 2010, Anticancer research.

Evaluation of SNPs in miR‐146a, miR196a2 and miR‐499 as low‐penetrance alleles in German and Italian familial breast cancer cases

P. Bugert, K. Hemminki, A. Meindl, 2010, Human mutation.

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

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

Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers

Peter Devilee, Alfons Meindl, Lesley McGuffog, 2010, Breast Cancer Research.

The association between breast cancer and S100P methylation in peripheral blood by multicenter case–control studies

A. Schneeweiss, P. Bugert, M. Golatta, 2017, Carcinogenesis.

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

Dong Liang, Patrick Neven, Harvey Risch, 2016, Journal of the National Cancer Institute.

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

F. Couch, J. Benítez, A. Spurdle, 2012, Journal of Medical Genetics.

BRCA 1 R 1699 Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

F. Couch, A. Spurdle, Å. Borg, 2012 .

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 .

Association of the ARLTS1 Cys148Arg variant with familial breast cancer risk

P. Bugert, K. Hemminki, A. Meindl, 2006, International journal of cancer.

Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach

L. Andrews, P. Møller, A. Spurdle, 2022, Human mutation.

A variant affecting a putative miRNA target site in estrogen receptor (ESR) 1 is associated with breast cancer risk in premenopausal women.

P. Bugert, K. Hemminki, A. Meindl, 2009, Carcinogenesis.

Limited relevance of the CHEK2 gene in hereditary breast cancer

A. Meindl, R. Schmutzler, M. Kiechle, 2004, International journal of cancer.

Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

M. Daly, D. Altshuler, F. Couch, 2010, PLoS genetics.

Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer

Dieter Niederacher, Alfons Meindl, Norbert Arnold, 2020, Geburtshilfe und Frauenheilkunde.

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.

A. Spurdle, D. Baralle, R. Brandão, 2014, Human molecular genetics.

Association of a common AKAP9 variant with breast cancer risk: a collaborative analysis.

J. Chang-Claude, J. Hopper, A. Spurdle, 2008, Journal of the National Cancer Institute.

DNA methylation array analysis identifies breast cancer associated RPTOR, MGRN1 and RAPSN hypomethylation in peripheral blood DNA

T. Holland-Letz, A. Schneeweiss, P. Bugert, 2016, Oncotarget.

Performance of In Silico Prediction Tools for the Detection of Germline Copy Number Variations in Cancer Predisposition Genes in 4208 Female Index Patients with Familial Breast and Ovarian Cancer

R. Schmutzler, B. Wappenschmidt, E. Hahnen, 2021, Cancers.

Pathological features of breast and ovarian cancers in RAD51C germline mutation carriers

H. Gevensleben, A. Meindl, R. Schmutzler, 2014, Virchows Archiv.

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.

Julian Peto, Kyriaki Michailidou, Kamila Czene, 2016, Human molecular genetics.

Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer

Tanja Fehm, Nina Ditsch, Dieter Niederacher, 2016, Journal of Medical Genetics.

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.

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

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

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

Katherine M. Tucker, W. Chung, R. Nussbaum, 2018, Journal of the National Cancer Institute.

Exclusion of a major role for the PTEN tumour-suppressor gene in breast carcinomas

A. Meindl, R. Schmutzler, B. Wappenschmidt, 1999, British Journal of Cancer.

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

Joshua M. Korn, M. Daly, D. Altshuler, 2011, Human Genetics.

PTEN mutations do not cause nuclear beta-catenin accumulation in endometrial carcinomas.

E. Wardelmann, B. Wappenschmidt, T. Pietsch, 2004, Human Pathology.

MLPA screening in the BRCA1 gene from 1,506 German hereditary breast cancer cases: novel deletions, frequent involvement of exon 17, and occurrence in single early‐onset cases

Dieter Niederacher, Alfons Meindl, Heide Hellebrand, 2008, Human mutation.

Genetic variants within miR-126 and miR-335 are not associated with breast cancer risk

A. Schneeweiss, H. Brenner, P. Bugert, 2011, Breast Cancer Research and Treatment.

Association of prolactin and its receptor gene regions with familial breast cancer.

K. Hemminki, A. Meindl, R. Schmutzler, 2006, The Journal of clinical endocrinology and metabolism.

A variant affecting miRNAs binding in the circadian gene Neuronal PAS domain protein 2 (NPAS2) is not associated with breast cancer risk

Hongbing Shen, Jin-hai Tang, Zhibin Hu, 2011, Breast Cancer Research and Treatment.

Polygenic risk modeling for prediction of epithelial ovarian cancer risk

A. Whittemore, W. Chung, L. Kiemeney, 2022, European Journal of Human Genetics.

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

F. Couch, O. Olopade, J. Benítez, 2021, Journal of the National Cancer Institute.

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

D. Steinemann, F. Couch, O. Olopade, 2017, Journal of Clinical Oncology.

Copy number variant in the candidate tumor suppressor gene MTUS1 and familial breast cancer risk.

Alfons Meindl, Barbara Burwinkel, Peter Bugert, 2007, Carcinogenesis.

Interaction of Werner and Bloom syndrome genes with p53 in familial breast cancer.

Dieter Niederacher, Alfons Meindl, Barbara Burwinkel, 2005, Carcinogenesis.

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Jane E. Carpenter, Jack A. Taylor, W. Chung, 2021, Nature Communications.

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

Sandra L. Halverson, A. Whittemore, L. Kiemeney, 2016, Gynecologic oncology.

Association of death receptor 4 haplotype 626C-683C with an increased breast cancer risk.

P. Bugert, K. Hemminki, A. Meindl, 2005, Carcinogenesis.

Pathology of Breast andOvarian Cancers among BRCA 1 and BRCA 2 Mutation Carriers : Results from the Consortium of Investigators of Modi fi ers of BRCA 1 / 2 ( CIMBA )

R. Nussbaum, V. Pankratz, F. Couch, 2011 .

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

Lara E Sucheston-Campbell, Simon G. Coetzee, Dennis J. Hazelett, 2017, Nature Genetics.

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

W. Chung, V. Pankratz, F. Couch, 2012, Cancer Epidemiology, Biomarkers & Prevention.

Gene panel testing of 5589 BRCA1/2‐negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer

Nina Ditsch, Peter Nürnberg, Dieter Niederacher, 2018, Cancer medicine.

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 predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

W. Chung, F. Couch, O. Olopade, 2021, Genetics in Medicine.

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

Christiana Kartsonaki, Mads Thomassen, Etienne Rouleau, 2011, Human molecular genetics.

The GPRC5A frameshift variant c.183del is not associated with increased breast cancer risk in BRCA1 mutation carriers

A. Meindl, R. Schmutzler, B. Burwinkel, 2019, International journal of cancer.

A Nonsynonymous Polymorphism in IRS1 Modifies Risk of Developing Breast and Ovarian Cancers in BRCA1 and Ovarian Cancer in BRCA2 Mutation Carriers

W. Chung, V. Pankratz, F. Couch, 2012, Cancer Epidemiology, Biomarkers & Prevention.

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

F. Couch, B. Karlan, J. Benítez, 2011, Journal of the National Cancer Institute.

Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history

A. Meindl, R. Schmutzler, M. Kiechle, 2018, BMC Cancer.

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) Clinical Working Group.

F. Couch, O. Olopade, R. Eeles, 2018, JCO precision oncology.

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.

Association of breast cancer risk in BRCA 1 and BRCA 2 mutation carriers with genetic variants showing differential allelic expression

R. Nussbaum, F. Couch, O. Olopade, 2016 .

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

W. Chung, R. Nussbaum, D. Steinemann, 2015, Breast Cancer Research.

Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers

W. Chung, R. Nussbaum, D. Steinemann, 2015, PloS one.

Title Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA 1 and BRCA 2 mutation carriers

R. Nussbaum, D. Steinemann, V. Pankratz, 2015 .

phylogenetic approach identified mitochondrial haplogroup T 1 a 1 as inversely associated with breast cancer risk in BRCA 2 mutation carriers

W. Chung, D. Steinemann, V. Pankratz, 2015 .

DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Olufunmilayo I. Olopade, Mads Thomassen, Torben A. Kruse, 2014, PLoS 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 .

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

F. Couch, T. Rebbeck, J. Benítez, 2011, Human molecular genetics.

Association of the Variants CASP8 D302H and CASP10 V410I with Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

F. Couch, T. Rebbeck, J. Benítez, 2010, Cancer Epidemiology, Biomarkers & Prevention.

ociation of the Variants CASP 8 D 302 H and CASP 10 0 I with Breast and Ovarian Cancer Risk in B & P A 1 and BRCA 2 Mutation Carriers

Rob, T. Rebbeck, J. Benítez, 2010 .

Association of the CASP10 V410I variant with reduced familial breast cancer risk and interaction with the CASP8 D302H variant.

P. Bugert, K. Hemminki, A. Meindl, 2006, Carcinogenesis.

Interplay between BRCA1 and RHAMM Regulates Epithelial Apicobasal Polarization and May Influence Risk of Breast Cancer

Marc Vidal, Dieter Niederacher, Roderic Guigó, 2011, PLoS biology.

factor AKAP13 with familial breast cancer

K. Hemminki, A. Meindl, B. Burwinkel, 2005 .

Association of NCOA3 Polymorphisms with Breast Cancer Risk

Barbara Burwinkel, Peter Bugert, Asta Försti, 2005, Clinical Cancer Research.

The CASP8 -652 6N del promoter polymorphism and breast cancer risk: a multicenter study

A. Cox, D. Easton, P. Bugert, 2008, Breast Cancer Research and Treatment.

Performance of breast cancer polygenic risk scores in 760 female CHEK2 germline mutation carriers.

A. Antoniou, A. Rump, M. Schmidt, 2020, Journal of the National Cancer Institute.

Breast cancer risk in BRCA1/2 mutation carriers and noncarriers under prospective intensified surveillance

D. Horn, T. Fehm, U. Bick, 2020, International journal of cancer.

The Role of KRAS rs61764370 in Invasive Epithelial Ovarian Cancer: Implications for Clinical Testing

L. Kiemeney, M. Pike, M. Beckmann, 2011, Clinical Cancer Research.

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

W. Chung, M. Beckmann, P. Fasching, 2019, npj Breast Cancer.

FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women

W. He, M. Beckmann, N. Camp, 2023, European Journal of Human Genetics.

Nuclear receptor coregulator SNP discovery and impact on breast cancer risk

Nina Ditsch, Steffi Oesterreich, Dieter Niederacher, 2009, BMC Cancer.

Variable number of tandem repeats polymorphism in the SMYD3 promoter region and the risk of familial breast cancer

P. Bugert, K. Hemminki, A. Meindl, 2006, International journal of cancer.

Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer

A. Meindl, R. Schmutzler, C. Sutter, 2011, Human mutation.

Low‐risk variants FGFR2, TNRC9 and LSP1 in German familial breast cancer patients

T. Meitinger, T. Illig, K. Hemminki, 2010, International journal of cancer.

Identification of a DMBT1 polymorphism associated with increased breast cancer risk and decreased promoter activity

P. Bugert, K. Hemminki, A. Meindl, 2010, Human mutation.

Polymorphisms in the Janus kinase 2 (JAK)/signal transducer and activator of transcription (STAT) genes: putative association of the STAT gene region with familial breast cancer.

K. Hemminki, A. Meindl, R. Schmutzler, 2007, Endocrine-related cancer.

Genetic variation in the major mitotic checkpoint genes does not affect familial breast cancer risk

P. Bugert, K. Hemminki, A. Meindl, 2007, Breast Cancer Research and Treatment.

Outcome of a structured surveillance programme in women with a familial predisposition for breast cancer

Silke Coburger, Rita K Schmutzler, Kerstin Rhiem, 2006, European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation.

Strong evidence that the common variant S384F in BRCA2 has no pathogenic relevance in hereditary breast cancer

R Fimmers, R. Fimmers, E. Wardelmann, 2005, Breast Cancer Research.

The rare ERBB2 variant Ile654Val is associated with an increased familial breast cancer risk

P. Bugert, K. Hemminki, B. Burwinkel, 2004, Breast Cancer Research.

Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

W. Chung, R. Nussbaum, D. Steinemann, 2014, Cancer Epidemiology, Biomarkers & Prevention.

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 .

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

A. Spurdle, B. Wappenschmidt, N. Sevenet, 2019, Nucleic acids research.

Evidence for SMAD 3 as a modifier of breast cancer risk in BRCA 2 mutation carriers

V. Pankratz, F. Couch, T. Rebbeck, 2010 .

Expression of the tumor suppressor gene PTEN is not altered in the progression of ovarian carcinomas and does not correlate with p27Kip1 expression.

M. Hoopmann, R. Schmutzler, B. Wappenschmidt, 2003, Oncology reports.

Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2

A. Whittemore, B. Karlan, E. John, 2023, British Journal of Cancer.

The KL-VS sequence variant of Klotho and cancer risk in BRCA1 and BRCA2 mutation carriers

F. Couch, D. Easton, K. Offit, 2012, Breast Cancer Research and Treatment.

Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer

A. Meindl, R. Schmutzler, Jan Hauke, 2019, Breast Cancer Research.

RAD51C deletion screening identifies a recurrent gross deletion in breast cancer and ovarian cancer families

A. Meindl, R. Schmutzler, H. Hellebrand, 2013, Breast Cancer Research.

Association of death receptor 4 variant (683A>C) with ovarian cancer risk in BRCA1 mutation carriers

A. Meindl, R. Schmutzler, C. Sutter, 2012, International journal of cancer.

PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants

N. Camp, K. Czene, A. Schneeweiss, 2023, NPJ breast cancer.

Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

Joshua M. Korn, Debra, M. Daly, 2010, PLoS genetics.

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

A. Spurdle, B. Wappenschmidt, N. Sevenet, 2018, Nucleic acids research.

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

Jane E. Carpenter, W. Chung, M. Beckmann, 2019, npj Breast Cancer.

The rare ERBB2 variant Ile654Val is associated with an increased familial breast cancer risk

R. Schmutzler, B. Burwinkel, B. Wappenschmidt, 2004 .

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

V. Pankratz, F. Couch, O. Olopade, 2010, Cancer research.

Common variants at 12 p 11 , 12 q 24 , 9 p 21 , 9 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, David Evans, 2017 .

University of Groningen Identification of a BRCA 2-Specific Modifier Locus at 6 p 24 Related to Breast Cancer

D. Altshuler, V. Pankratz, F. Couch, 2017 .

Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history

A. Meindl, R. Schmutzler, M. Kiechle, 2018, BMC Cancer.

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

Sebastian M. Armasu, Jaana M. Hartikainen, A. Whittemore, 2013, Nature Genetics.

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

Sandra L. Halverson, A. Whittemore, L. Kiemeney, 2016, Gynecologic oncology.

DNA methylation array analyses identified breast cancer‐associated HYAL2 methylation in peripheral blood

A. Schneeweiss, H. Brenner, C. Plass, 2015, International journal of cancer.

A Likelihood Ratio Approach for Utilizing Case-Control Data in the Clinical Classification of Rare Sequence Variants: Application to BRCA1 and BRCA2

Jack A. Taylor, C. Vachon, K. Czene, 2023, Human Mutation.

Clinical implications of incorporating genetic and non-genetic risk factors in CanRisk-based breast cancer risk prediction.

P. Devilee, C. V. van Asperen, B. Wappenschmidt, 2023, Breast.

Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.

F. Couch, P. Møller, J. Hopper, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

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

V. Pankratz, F. Couch, T. Rebbeck, 2011, Human molecular genetics.

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

B. Bonanni, O. Olopade, B. Karlan, 2012 .

Implementing mainstream genetic counseling within the area-wide network of the German Consortium Hereditary Breast and Ovarian Cancer (GD-HBOC): Satisfaction of primary care providers with the provided state-of-the-art training by the Cologne Center.

B. Wappenschmidt, J. Hauke, A. Tüchler, 2024, Journal of genetic counseling.

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

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

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

A. Spurdle, B. Wappenschmidt, N. Sevenet, 2018, Nucleic Acids Research.

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

Jack A. Taylor, S. Cross, C. Vachon, 2020, Genetic epidemiology.

DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

A. Whittemore, D. Steinemann, F. Couch, 2014, PLoS genetics.