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Personalized Risk Assessment for Prevention and Early Detection of Breast Cancer: Integration and Implementation (PERSPECTIVE I&I).
- Published in:
- Journal of Personalized Medicine, 2021, v. 11, n. 6, p. 511, doi. 10.3390/jpm11060511
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- Publication type:
- Article
Minigene‐based splicing analysis and ACMG/AMP‐based tentative classification of 56 ATM variants.
- Published in:
- Journal of Pathology, 2022, v. 258, n. 1, p. 83, doi. 10.1002/path.5979
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- Publication type:
- Article
Splicing predictions, minigene analyses, and ACMG‐AMP clinical classification of 42 germline PALB2 splice‐site variants.
- Published in:
- Journal of Pathology, 2022, v. 256, n. 3, p. 321, doi. 10.1002/path.5839
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- Publication type:
- Article
Germline DLST Variants Promote Epigenetic Modifications in Pheochromocytoma-Paraganglioma.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2021, v. 106, n. 2, p. 459, doi. 10.1210/clinem/dgaa819
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- Publication type:
- Article
Prediction of contralateral breast cancer: external validation of risk calculators in 20 international cohorts.
- Published in:
- Breast Cancer Research & Treatment, 2020, v. 181, n. 2, p. 423, doi. 10.1007/s10549-020-05611-8
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- Publication type:
- Article
Survival after bilateral risk-reducing mastectomy in healthy BRCA1 and BRCA2 mutation carriers.
- Published in:
- Breast Cancer Research & Treatment, 2019, v. 177, n. 3, p. 723, doi. 10.1007/s10549-019-05345-2
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- Publication type:
- Article
BRCA1 Mutation Analysis in a Portuguese Population with Early-Onset Breast and/or Ovarian Cancer.
- Published in:
- 1999
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- Publication type:
- Abstract
BRCA1-related breast cancer in Austrian breast and ovarian cancer families: Specific BRCA1 mutations and pathological characteristics.
- Published in:
- International Journal of Cancer, 1998, v. 77, n. 3, p. 354, doi. 10.1002/(SICI)1097-0215(19980729)77:3<354::AID-IJC8>3.0.CO;2-N
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- Publication type:
- Article
Fractional allelic imbalance in human breast cancer increases with tetraploidization and chromosome loss.
- Published in:
- International Journal of Cancer, 1992, v. 50, n. 4, p. 544, doi. 10.1002/ijc.2910500408
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- Publication type:
- Article
Mutations in exons 5-8 of the p53 gene, independent of their type and location, are associated with increased apoptosis and mitosis in invasive breast carcinoma.
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- Journal of Pathology, 1999, v. 189, n. 4, p. 504, doi. 10.1002/(SICI)1096-9896(199912)189:4<504::AID-PATH483>3.0.CO;2-A
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- Publication type:
- Article
LncRNA LITATS1 suppresses TGF‐β‐induced EMT and cancer cell plasticity by potentiating TβRI degradation.
- Published in:
- EMBO Journal, 2023, v. 42, n. 10, p. 1, doi. 10.15252/embj.2022112806
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- Publication type:
- Article
Correction: PredictCBC-2.0: a contralateral breast cancer risk prediction model developed and validated in ~ 200,000 patients.
- Published in:
- 2022
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- Publication type:
- corrected article
PredictCBC-2.0: a contralateral breast cancer risk prediction model developed and validated in ~ 200,000 patients.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Exome Sequencing of Germline DNA from Non-BRCA1/2 Familial Breast Cancer Cases Selected on the Basis of aCGH Tumor Profiling.
- Published in:
- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0055734
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- Publication type:
- Article
MDM2 Promoter SNP344T>A (rs1196333) Status Does Not Affect Cancer Risk.
- Published in:
- PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0036263
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- Publication type:
- Article
Familial Adenomatous Polyposis-Associated Desmoids Display Significantly More Genetic Changes than Sporadic Desmoids.
- Published in:
- PLoS ONE, 2011, v. 6, n. 9, p. 1, doi. 10.1371/journal.pone.0024354
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- Publication type:
- Article
A response to “Personalised medicine and population health: breast and ovarian cancer”.
- Published in:
- 2019
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- Publication type:
- Letter to the Editor
Re: Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers.
- Published in:
- 2003
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- Publication type:
- commentary
Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families.
- Published in:
- Oncogene, 2004, v. 23, n. 23, p. 4076, doi. 10.1038/sj.onc.1207591
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- Publication type:
- Article
A targeted mouse Brca1 mutation removing the last BRCT repeat results in apoptosis and embryonic lethality at the headfold stage.
- Published in:
- Oncogene, 2001, v. 20, n. 20, p. 2544, doi. 10.1038/sj.onc.1204363
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- Publication type:
- Article
Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-13194-2
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- Publication type:
- Article
RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants.
- Published in:
- Cancers, 2021, v. 13, n. 11, p. 2845, doi. 10.3390/cancers13112845
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- Publication type:
- Article
Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene.
- Published in:
- Cancers, 2020, v. 12, n. 12, p. 3771, doi. 10.3390/cancers12123771
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- Publication type:
- Article
Prediction and clinical utility of a contralateral breast cancer risk model.
- Published in:
- 2019
- By:
- Publication type:
- journal article
CHEK2*1100delC homozygosity in the Netherlands-prevalence and risk of breast and lung cancer.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 1, p. 46, doi. 10.1038/ejhg.2013.85
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- Publication type:
- Article
The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 1, p. 62, doi. 10.1038/ejhg.2009.112
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- Publication type:
- Article
Unclassified variants in disease-causing genes: nonuniformity of genetic testing and counselling, a proposal for guidelines.
- Published in:
- 2005
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- Publication type:
- Letter
Men at risk of being a mutation carrier for hereditary breast/ovarian cancer: an exploration of attitudes and psychological functioning during genetic testing.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 7, p. 492, doi. 10.1038/sj.ejhg.5200668
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- Publication type:
- Article
A high-resolution integrated map spanning the SDHD gene at 11q23: a 1.1-Mb BAC contig, a partial transcript map and 15 new repeat polymorphisms in a tumour-suppressor region.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 2, p. 121, doi. 10.1038/sj.ejhg.5200585
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- Publication type:
- Article
MUTYH gene variants and breast cancer in a Dutch case-control study.
- Published in:
- Breast Cancer Research & Treatment, 2012, v. 134, n. 1, p. 219, doi. 10.1007/s10549-012-1965-0
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- Publication type:
- Article
Prediction of BRCA2-association in hereditary breast carcinomas using array-CGH.
- Published in:
- Breast Cancer Research & Treatment, 2012, v. 132, n. 2, p. 379, doi. 10.1007/s10549-010-1016-7
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- Publication type:
- Article
Increased MUTYH mutation frequency among Dutch families with breast cancer and colorectal cancer.
- Published in:
- Breast Cancer Research & Treatment, 2011, v. 124, n. 3, p. 635, doi. 10.1007/s10549-010-0801-7
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- Publication type:
- Article
Subtypes of familial breast tumours revealed by expression and copy number profiling.
- Published in:
- Breast Cancer Research & Treatment, 2010, v. 123, n. 3, p. 661, doi. 10.1007/s10549-009-0653-1
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- Publication type:
- Article
A 7 Mb region within 11q13 may contain a high penetrance gene for breast cancer.
- Published in:
- Breast Cancer Research & Treatment, 2010, v. 118, n. 1, p. 151, doi. 10.1007/s10549-009-0317-1
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- Publication type:
- Article
CHEK2 1100delC mutation is frequent among Russian breast cancer patients.
- Published in:
- Breast Cancer Research & Treatment, 2006, v. 100, n. 1, p. 99, doi. 10.1007/s10549-006-9227-7
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- Publication type:
- Article
Absence of evidence for a familial breast cancer susceptibility gene at chromosome 8p12-p22.
- Published in:
- Oncogene, 2000, v. 19, n. 36, p. 4170, doi. 10.1038/sj.onc.1203735
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- Publication type:
- Article
Prognostic value of automated KI67 scoring in breast cancer: a centralised evaluation of 8088 patients from 10 study groups.
- Published in:
- Breast Cancer Research, 2016, v. 18, p. 1, doi. 10.1186/s13058-016-0765-6
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- Publication type:
- Article
Allele-specific regulation of FGFR2 expression is cell type-dependent and may increase breast cancer risk through a paracrine stimulus involving FGF10.
- Published in:
- 2011
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- Publication type:
- journal article
Similar gene expression profiles of sporadic, PGL2-, and SDHD-linked paragangliomas suggest a common pathway to tumorigenesis.
- Published in:
- BMC Medical Genomics, 2009, v. 2, p. 1, doi. 10.1186/1755-8794-2-25
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- Publication type:
- Article
Prognostic impact of BRCA1 pathogenic and BRCA1/BRCA2 unclassified variant mutations in patients with ovarian carcinoma.
- Published in:
- Cancer (0008543X), 2005, v. 104, n. 5, p. 1004
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- Publication type:
- Article
Risk-Adjusted Cancer Screening and Prevention (RiskAP): Complementing Screening for Early Disease Detection by a Learning Screening Based on Risk Factors.
- Published in:
- Breast Care, 2022, v. 17, n. 2, p. 208, doi. 10.1159/000517182
- By:
- Publication type:
- Article
Survey on Physicians' Knowledge and Training Needs in Genetic Counseling in Germany.
- Published in:
- Breast Care, 2021, v. 16, n. 4, p. 389, doi. 10.1159/000511136
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- Publication type:
- Article
Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants.
- Published in:
- Clinical Chemistry, 2024, v. 70, n. 1, p. 319, doi. 10.1093/clinchem/hvad125
- By:
- Publication type:
- Article
Akkermansia muciniphila and Helicobacter typhlonius modulate intestinal tumor development in mice.
- Published in:
- Carcinogenesis, 2015, v. 36, n. 11, p. 1388, doi. 10.1093/carcin/bgv120
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- Publication type:
- Article
A new conditional Apc-mutant mouse model for colorectal cancer.
- Published in:
- Carcinogenesis, 2010, v. 31, n. 5, p. 946, doi. 10.1093/carcin/bgq046
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- Publication type:
- Article
5-Aminosalicylic acid inhibits colitis-associated but not sporadic colorectal neoplasia in a novel conditional Apc mouse model.
- Published in:
- Carcinogenesis, 2009, v. 30, n. 7, p. 1217, doi. 10.1093/carcin/bgp113
- By:
- Publication type:
- Article
Increased HIF1α in SDH and FH deficient tumors does not cause microsatellite instability.
- Published in:
- International Journal of Cancer, 2007, v. 121, n. 6, p. 1386, doi. 10.1002/ijc.22819
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- Publication type:
- Article
Searching for susceptibility alleles: Emphasis on bilateral breast cancer.
- Published in:
- International Journal of Cancer, 2007, v. 121, n. 4, p. 921, doi. 10.1002/ijc.22785
- By:
- Publication type:
- Article
NBS1 657del5 mutation may contribute only to a limited fraction of breast cancer cases in Russia.
- Published in:
- International Journal of Cancer, 2005, v. 114, n. 4, p. 585, doi. 10.1002/ijc.20765
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- Publication type:
- Article
Mutant BRCA1 alleles transmission: Different approaches and different biases.
- Published in:
- International Journal of Cancer, 2005, v. 113, n. 1, p. 166, doi. 10.1002/ijc.20541
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- Publication type:
- Article