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- 2023
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Mark
Validation of the BOADICEA model for predicting the likelihood of carrying pathogenic variants in eight breast and ovarian cancer susceptibility genes
(
- Contribution to journal › Article
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Mark
Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer
(
- Contribution to journal › Article
- 2022
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Mark
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants : Application of a points-based ACMG/AMP approach
(
- Contribution to journal › Article
- 2021
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Mark
Precision oncology of high-grade ovarian cancer defined through targeted sequencing
(
- Contribution to journal › Article
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Mark
Breast cancer risk genes - Association analysis in more than 113,000 women
(
- Contribution to journal › Article
- 2019
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Mark
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification
(
- Contribution to journal › Article
- 2018
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Mark
BRCAsearch : written pre-test information and BRCA1/2 germline mutation testing in unselected patients with newly diagnosed breast cancer
(
- Contribution to journal › Article
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Mark
Gene-panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication
(
- Contribution to journal › Article
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Mark
Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility
(
- Contribution to journal › Article
- 2017
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Mark
Expanding the genotype–phenotype spectrum in hereditary colorectal cancer by gene panel testing
(
- Contribution to journal › Article
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Mark
Mutational and putative neoantigen load predict clinical benefit of adoptive T cell therapy in melanoma
(
- Contribution to journal › Article
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Mark
Cytohesin 1 regulates homing and engraftment of human hematopoietic stem and progenitor cells
(
- Contribution to journal › Article
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Mark
NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics
(
- Contribution to journal › Article
- 2016
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Mark
Targeted sequencing of BRCA1 and BRCA2 across a large unselected breast cancer cohort suggests that one-third of mutations are somatic
(
- Contribution to journal › Article
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Mark
Multiregion whole-exome sequencing uncovers the genetic evolution and mutational heterogeneity of early-stage metastatic melanoma
(
- Contribution to journal › Article
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Mark
Genome-wide RNAi Screen Identifies Cohesin Genes as Modifiers of Renewal and Differentiation in Human HSCs
(
- Contribution to journal › Article
- 2015
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Mark
Mutation Screening of 1,237 Cancer Genes across Six Model Cell Lines of Basal-Like Breast Cancer.
(
- Contribution to journal › Article
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Mark
Remarkable similarities of chromosomal rearrangements between primary human breast cancers and matched distant metastases as revealed by whole-genome sequencing.
(
- Contribution to journal › Article
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Mark
Aberrant recombination and repair during immunoglobulin class switching in BRCA1-deficient human B cells.
(
- Contribution to journal › Article
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Mark
Molecular stratification of metastatic melanoma using gene expression profiling: prediction of survival outcome and benefit from molecular targeted therapy.
(
- Contribution to journal › Article
- 2014
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Mark
Molecular and genetic diversity in the metastatic process of melanoma.
(
- Contribution to journal › Article
- 2013
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Mark
COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration
(
- Contribution to journal › Letter
- 2012
-
Mark
Molecular profiling reveals low- and high-grade forms of primary melanoma
(
- Contribution to journal › Article
- 2011
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Mark
IGF1 htSNPs in relation to IGF-1 levels in young women from high-risk breast cancer families: implications for early-onset breast cancer
(
- Contribution to journal › Article
-
Mark
Androgen receptor htSNPs in relation to androgen levels and OC use in young women from high-risk breast cancer families.
(
- Contribution to journal › Article
- 2010
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Mark
Genetic variants on chromosome 5p12 are associated with risk of breast cancer in African American women: the Black Women's Health Study
(
- Contribution to journal › Article
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Mark
Oral contraceptives and postmenopausal hormones and risk of contralateral breast cancer among BRCA1 and BRCA2 mutation carriers and noncarriers: the WECARE Study
(
- Contribution to journal › Article
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Mark
Reproductive factors and risk of contralateral breast cancer by BRCA1 and BRCA2 mutation status: results from the WECARE study
(
- Contribution to journal › Article
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Mark
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.
(
- Contribution to journal › Article
- 2007
-
Mark
Genomic profiling of malignant melanoma using tiling-resolution arrayCGH.
(
- Contribution to journal › Article
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Mark
Testosterone levels in relation to oral contraceptive use and the androgen receptor CAG and GGC length polymorphisms in healthy young women
(
- Contribution to journal › Article
-
Mark
Absence of the common IGF1 19 CA-repeat allele is more common among BRCA1 mutation carriers than among non-carriers from BRCA1 families.
(
- Contribution to journal › Article
- 2006
-
Mark
Insulin-like growth factor-1 genotype predicts breast volume after pregnancy and hormonal contraception and is associated with circulating insulin-like growth factor-1 levels: implications for risk of early-onset breast cancer in young women from hereditary breast cancer families.
(
- Contribution to journal › Article
- 2005
-
Mark
Insulin-like growth factor-1 (IGF1) genotype predicts breast volume after pregnancy and hormonal contraception and is associated with circulating IGF-1 levels: implications for risk of early-onset breast cancer in young women from hereditary breast cancer families.
(
- Contribution to journal › Article
-
Mark
Mapping of a novel ocular and cutaneous malignant melanoma susceptibility locus to chromosome 9q21.32.
(
- Contribution to journal › Article
- 2004
-
Mark
Melanoma and nonmelanoma skin cancer in patients with multiple tumours-evidence for new syndromes in a population-based study.
(
- Contribution to journal › Article
- 2003
-
Mark
BRCA1 and BRCA2 mutation analysis in breast-ovarian cancer families from northeastern Poland
(
- Contribution to journal › Article
- 2002
-
Mark
Clinical and histopathological features of malignant melanoma in germline CDKN2A mutation families
(
- Contribution to journal › Article
-
Mark
A genomic map of a 6-Mb region at 13q21-q22 implicated in cancer development: identification and characterization of candidate genes
(
- Contribution to journal › Article
- 2001
-
Mark
Haplotype analysis and age estimation of the 113insR CDKN2A founder mutation in Swedish melanoma families
(
- Contribution to journal › Article
- 2000
-
Mark
Somatic deletions in hereditary breast cancers implicate 13q21 as a putative novel breast cancer susceptibility locus
(
- Contribution to journal › Article
- 1999
-
Mark
Isochromosome 17q in blast crisis of chronic myeloid leukemia and in other hematologic malignancies is the result of clustered breakpoints in 17p11 and is not associated with coding TP53 mutations
(
- Contribution to journal › Article