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Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk

The New England journal of medicine, 2015-06, Vol.372 (23), p.2243-2257

2015

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

Nature genetics, 2010-05, Vol.42 (5), p.410-414

2010

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Contralateral Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Journal of clinical oncology, 2009-12, Vol.27 (35), p.5887-5892

2009

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Thyroid Hormone Receptors Predict Prognosis in BRCA1 Associated Breast Cancer in Opposing Ways

PloS one, 2015-06, Vol.10 (6), p.e0127072-e0127072

2015

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

Breast cancer research : BCR, 2019-04, Vol.21 (1), p.55-55, Article 55

2019

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Vitamin D receptor, Retinoid X receptor and peroxisome proliferator-activated receptor γ are overexpressed in BRCA1 mutated breast cancer and predict prognosis

Journal of experimental & clinical cancer research, 2017-04, Vol.36 (1), p.57-57, Article 57

2017

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Downregulation of serine protease HTRA1 is associated with poor survival in breast cancer

PloS one, 2013-04, Vol.8 (4), p.e60359-e60359

2013

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

BMC cancer, 2022-06, Vol.22 (1), p.1-706, Article 706

2022

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Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families

Human molecular genetics, 2012-07, Vol.21 (13), p.2889-2898

2012

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Strong association of a common dihydropyrimidine dehydrogenase gene polymorphism with fluoropyrimidine-related toxicity in cancer patients

PloS one, 2008-12, Vol.3 (12), p.e4003-e4003

2008

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TP53 germline mutations in the context of families with hereditary breast and ovarian cancer: a clinical challenge

Archives of gynecology and obstetrics, 2021-06, Vol.303 (6), p.1557-1567

2021

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Genetische Grundlagen des erblichen Mamma- und Ovarialkarzinoms

Gynäkologe (Berlin), 2020-11, Vol.53 (11), p.726-733

2020

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Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction

PloS one, 2012-12, Vol.7 (12), p.e50800-e50800

2012

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Non-collagenous extracellular matrix protein dermatopontin may play a role as another component of transforming growth factor-β signaling pathway in colon carcinogenesis

Iranian journal of basic medical sciences, 2021-04, Vol.24 (4), p.444-450

2021

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Decreased expression of angiogenesis antagonist EFEMP1 in sporadic breast cancer is caused by aberrant promoter methylation and points to an impact of EFEMP1 as molecular biomarker

International journal of cancer, 2009-04, Vol.124 (7), p.1727-1735

2009

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Identification of BRCA1-like triple-negative breast cancers by quantitative multiplex-ligation-dependent probe amplification (MLPA) analysis of BRCA1-associated chromosomal regions: a validation study

BMC cancer, 2016-10, Vol.16 (1), p.811-811, Article 811

2016

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Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa

Nature genetics, 2000-08, Vol.25 (4), p.462-466

2000

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

Carcinogenesis (New York), 2007-07, Vol.28 (7), p.1442-1445

2007

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An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

Nature genetics, 1998-07, Vol.19 (3), p.260-263

1998

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The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein

Nature genetics, 2000-11, Vol.26 (3), p.324-327

2000

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Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk

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

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

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

Contralateral Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Thyroid Hormone Receptors Predict Prognosis in BRCA1 Associated Breast Cancer in Opposing Ways

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

Vitamin D receptor, Retinoid X receptor and peroxisome proliferator-activated receptor γ are overexpressed in BRCA1 mutated breast cancer and predict prognosis

Downregulation of serine protease HTRA1 is associated with poor survival in breast cancer

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

Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families

X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options

Strong association of a common dihydropyrimidine dehydrogenase gene polymorphism with fluoropyrimidine-related toxicity in cancer patients

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

TP53 germline mutations in the context of families with hereditary breast and ovarian cancer: a clinical challenge

Genetische Grundlagen des erblichen Mamma- und Ovarialkarzinoms

Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction

Non-collagenous extracellular matrix protein dermatopontin may play a role as another component of transforming growth factor-β signaling pathway in colon carcinogenesis

Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects

Decreased expression of angiogenesis antagonist EFEMP1 in sporadic breast cancer is caused by aberrant promoter methylation and points to an impact of EFEMP1 as molecular biomarker

Identification of BRCA1-like triple-negative breast cancers by quantitative multiplex-ligation-dependent probe amplification (MLPA) analysis of BRCA1-associated chromosomal regions: a validation study

Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa

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

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein

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