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

Breast cancer research : BCR, 2018-01, Vol.20 (1), p.7-7, Article 7

2018

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Inactivation of the Murine X-Linked Juvenile Retinoschisis Gene, Rs1h, Suggests a Role of Retinoschisin in Retinal Cell Layer Organization and Synaptic Structure

Proceedings of the National Academy of Sciences - PNAS, 2002-04, Vol.99 (9), p.6222-6227

2002

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Targeted Molecular Analysis in Adrenocortical Carcinomas: A Strategy Toward Improved Personalized Prognostication

The journal of clinical endocrinology and metabolism, 2018-12, Vol.103 (12), p.4511-4523

2018

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Constitutive promoter methylation of BRCA1 and RAD51C in patients with familial ovarian cancer and early-onset sporadic breast cancer

Human molecular genetics, 2012-11, Vol.21 (21), p.4669-4679

2012

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

Nature communications, 2019-04, Vol.10 (1), p.1741-18, Article 1741

2019

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

International journal of cancer, 2020-02, Vol.146 (4), p.999-1009

2020

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Single CpG hypermethylation, allele methylation errors, and decreased expression of multiple tumor suppressor genes in normal body cells of mutation‐negative early‐onset and high‐risk breast cancer patients

International journal of cancer, 2018-09, Vol.143 (6), p.1416-1425

2018

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Performance of Breast Cancer Polygenic Risk Scores in 760 Female CHEK2 Germline Mutation Carriers

JNCI : Journal of the National Cancer Institute, 2021-07, Vol.113 (7), p.893-899

2021

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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

Cancer medicine (Malden, MA), 2018-04, Vol.7 (4), p.1349-1358

2018

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Deep intronic variants introduce DMD pseudoexon in patient with muscular dystrophy

Neuromuscular disorders : NMD, 2017-07, Vol.27 (7), p.631-634

2017

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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

Journal of medical genetics, 2018-01, Vol.55 (1), p.15

2018

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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

Geburtshilfe und Frauenheilkunde, 2020-04, Vol.80 (4), p.410-429

2020

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

Journal of medical genetics, 2012-08, Vol.49 (8), p.525-532

2012

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Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

Breast cancer research : BCR, 2016-06, Vol.18 (1), p.64, Article 64

2016

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BRCA1/2 mutation prevalence in triple-negative breast cancer patients without family history of breast and ovarian cancer

Journal of clinical oncology, 2016-05, Vol.34 (15_suppl), p.1090-1090

2016

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NGS-based multi-gene panel analysis in BRCA1/2 -negative breast and ovarian cancer families

Journal of clinical oncology, 2017-05, Vol.35 (15_suppl), p.1526-1526

2017

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Isolation and characterization of the murine X-linked juvenile retinoschisis (Rs1h) gene

Mammalian genome, 1999-03, Vol.10 (3), p.303-307

1999

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

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

Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers

Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer

Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women

Inactivation of the Murine X-Linked Juvenile Retinoschisis Gene, Rs1h, Suggests a Role of Retinoschisin in Retinal Cell Layer Organization and Synaptic Structure

Targeted Molecular Analysis in Adrenocortical Carcinomas: A Strategy Toward Improved Personalized Prognostication

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

Constitutive promoter methylation of BRCA1 and RAD51C in patients with familial ovarian cancer and early-onset sporadic breast cancer

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

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

Single CpG hypermethylation, allele methylation errors, and decreased expression of multiple tumor suppressor genes in normal body cells of mutation‐negative early‐onset and high‐risk breast cancer patients

Performance of Breast Cancer Polygenic Risk Scores in 760 Female CHEK2 Germline Mutation Carriers

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

The identification of patient‐specific mutations reveals dual pathway activation in most patients with melanoma and activated receptor tyrosine kinases in BRAF/NRAS wild‐type melanomas

Deep intronic variants introduce DMD pseudoexon in patient with muscular dystrophy

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

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

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

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

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

BRCA1/2 mutation prevalence in triple-negative breast cancer patients without family history of breast and ovarian cancer

NGS-based multi-gene panel analysis in BRCA1/2 -negative breast and ovarian cancer families

Isolation and characterization of the murine X-linked juvenile retinoschisis (Rs1h) gene

Prevalence of BRCA1/2 germline mutations in 21401 families with breast and ovarian cancer

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