Nature Communications, ISSN 2041-1723, 12/2019, Volume 10, Issue 1, pp. 1 - 15
Heterozygous carriers of germ-line loss-of-function variants in the DNA repair gene PALB2 are at a highly increased lifetime risk for developing breast cancer....
Coils | BRCA1 protein | Risk groups | Health risks | Risk | Functional analysis | Breast cancer | DNA repair | Genetic variance | Damage detection | Genetic analysis | Repair | Deoxyribonucleic acid--DNA | Cancer
Coils | BRCA1 protein | Risk groups | Health risks | Risk | Functional analysis | Breast cancer | DNA repair | Genetic variance | Damage detection | Genetic analysis | Repair | Deoxyribonucleic acid--DNA | Cancer
Journal Article
Clinical cancer research : an official journal of the American Association for Cancer Research, ISSN 1078-0432, 09/2019
Whether endometrial cancer (EC) should be considered part of the associated Hereditary Breast and Ovarian Cancer (HBOC)-syndrome is topic of debate. We sought...
Journal Article
Human Mutation, ISSN 1059-7794, 01/2009, Volume 30, Issue 1, pp. 107 - 114
A large number of sequence variants identified in BRCA1 and BRCA2 cannot be distinguished as either disease‐causing mutations or neutral variants. These...
intronic variants | BRCA1 | BRCA2 | clinical significance | unclassified variants | splice‐site prediction | RNA analysis | Splice-site prediction | Intronic variants | Unclassified variants | Clinical significance | ACTIVATION DOMAIN | BREAST/OVARIAN CANCER FAMILIES | SUSCEPTIBILITY | DNA-SEQUENCE VARIANTS | OVARIAN-CANCER | BREAST | splice-site prediction | UNKNOWN CLINICAL-SIGNIFICANCE | MESSENGER-RNA | GENE | MUTATION | GENETICS & HEREDITY | Introns - genetics | RNA Splice Sites - genetics | Humans | Molecular Sequence Data | Genetic Variation | BRCA1 Protein - genetics | RNA Splicing | Breast Neoplasms - genetics | Sequence Analysis, RNA | Base Sequence | Adult | Female | Breast Neoplasms - diagnosis | Software | BRCA2 Protein - genetics
intronic variants | BRCA1 | BRCA2 | clinical significance | unclassified variants | splice‐site prediction | RNA analysis | Splice-site prediction | Intronic variants | Unclassified variants | Clinical significance | ACTIVATION DOMAIN | BREAST/OVARIAN CANCER FAMILIES | SUSCEPTIBILITY | DNA-SEQUENCE VARIANTS | OVARIAN-CANCER | BREAST | splice-site prediction | UNKNOWN CLINICAL-SIGNIFICANCE | MESSENGER-RNA | GENE | MUTATION | GENETICS & HEREDITY | Introns - genetics | RNA Splice Sites - genetics | Humans | Molecular Sequence Data | Genetic Variation | BRCA1 Protein - genetics | RNA Splicing | Breast Neoplasms - genetics | Sequence Analysis, RNA | Base Sequence | Adult | Female | Breast Neoplasms - diagnosis | Software | BRCA2 Protein - genetics
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 09/2019, Volume 56, Issue 9, pp. 581 - 589
BackgroundThe currently known breast cancer-associated single nucleotide polymorphisms (SNPs) are presently not used to guide clinical management. We explored...
genetic screening/counselling | cancer: breast | polygenic risk score | clinical genetics | genetic epidemiology
genetic screening/counselling | cancer: breast | polygenic risk score | clinical genetics | genetic epidemiology
Journal Article
The Journal of Molecular Diagnostics, ISSN 1525-1578, 09/2018, Volume 20, Issue 5, pp. 600 - 611
variant analysis in tumor tissue could streamline the referral of patients with epithelial ovarian, fallopian tube, or primary peritoneal cancer to genetic...
CANCER PATIENTS | INHERITED MUTATIONS | HYPERMETHYLATION | PERFORMANCE | DOUBLE-BLIND | SOMATIC MUTATION | PATHOLOGY | FOUNDER MUTATIONS | MAINTENANCE THERAPY | BREAST | PHASE-2 TRIAL
CANCER PATIENTS | INHERITED MUTATIONS | HYPERMETHYLATION | PERFORMANCE | DOUBLE-BLIND | SOMATIC MUTATION | PATHOLOGY | FOUNDER MUTATIONS | MAINTENANCE THERAPY | BREAST | PHASE-2 TRIAL
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2019
Background: The currently known breast cancer-associated single nucleotide polymorphisms (SNPs) are presently not used to guide clinical management. We...
Journal Article
Clinical cancer research : an official journal of the American Association for Cancer Research, ISSN 1078-0432, 11/2018
The elevated levels of somatic copy-number alterations (SCNAs) in a subset of high-risk endometrial cancers are suggestive of defects in pathways governing...
Journal Article
JOURNAL OF MEDICAL GENETICS, ISSN 0022-2593, 09/2019, Volume 56, Issue 9, pp. 581 - 589
BACKGROUND: The currently known breast cancer-associated single nucleotide polymorphisms (SNPs) are presently not used to guide clinical management. We...
Journal Article
Breast cancer research, ISSN 1465-5411, 2009, Volume 11, Issue 1, pp. R8 - R8
Introduction Unclassified variants (UVs) in the BRCA1/BRCA2 genes are a frequent problem in counseling breast cancer and/or ovarian cancer families....
BREAST-CANCER | DOMAIN | MISSENSE SUBSTITUTIONS | ONCOLOGY | RISK | CLASSIFICATION | DNA-SEQUENCE VARIANTS | OVARIAN-CANCER | MUTATIONS | MODEL | SUSCEPTIBILITY GENES | Genetic Predisposition to Disease | Prognosis | Ovarian Neoplasms - diagnosis | Humans | Middle Aged | Ovarian Neoplasms - blood | Models, Statistical | Ovarian Neoplasms - genetics | BRCA1 Protein - genetics | Breast Neoplasms - genetics | Breast Neoplasms - blood | Adult | Female | ROC Curve | Breast Neoplasms - diagnosis | Genetic Variation - genetics | BRCA2 Protein - genetics | BRCA mutations | Genetic variation | Breast cancer | Genetic aspects | Research | Health aspects | Risk factors
BREAST-CANCER | DOMAIN | MISSENSE SUBSTITUTIONS | ONCOLOGY | RISK | CLASSIFICATION | DNA-SEQUENCE VARIANTS | OVARIAN-CANCER | MUTATIONS | MODEL | SUSCEPTIBILITY GENES | Genetic Predisposition to Disease | Prognosis | Ovarian Neoplasms - diagnosis | Humans | Middle Aged | Ovarian Neoplasms - blood | Models, Statistical | Ovarian Neoplasms - genetics | BRCA1 Protein - genetics | Breast Neoplasms - genetics | Breast Neoplasms - blood | Adult | Female | ROC Curve | Breast Neoplasms - diagnosis | Genetic Variation - genetics | BRCA2 Protein - genetics | BRCA mutations | Genetic variation | Breast cancer | Genetic aspects | Research | Health aspects | Risk factors
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 02/2013, Volume 50, Issue 2, pp. 74 - 79
Background Nearly 15% of BRCA1 and BRCA2 DNA tests lead to the identification of Variants of Uncertain Significance (VUS). VUS are classified in the...
IMPACT | UNKNOWN CLINICAL-SIGNIFICANCE | MISSENSE SUBSTITUTIONS | GENETICS & HEREDITY | SEQUENCE VARIANTS | CLASSIFICATION | UNCLASSIFIED VARIANTS | MUTATIONS | BREAST | Amino Acid Sequence | Predictive Value of Tests | Genetic Testing | Humans | Mutation, Missense | Genetic Counseling | Ovarian Neoplasms - genetics | BRCA1 Protein - genetics | Sequence Alignment | Algorithms | BRCA2 Protein - metabolism | Breast Neoplasms - genetics | BRCA1 Protein - metabolism | Base Sequence | Computer Simulation | Female | BRCA2 Protein - chemistry | BRCA1 Protein - chemistry | BRCA2 Protein - genetics | Amino Acid Substitution | Genetic variation | Genetic counseling | Research
IMPACT | UNKNOWN CLINICAL-SIGNIFICANCE | MISSENSE SUBSTITUTIONS | GENETICS & HEREDITY | SEQUENCE VARIANTS | CLASSIFICATION | UNCLASSIFIED VARIANTS | MUTATIONS | BREAST | Amino Acid Sequence | Predictive Value of Tests | Genetic Testing | Humans | Mutation, Missense | Genetic Counseling | Ovarian Neoplasms - genetics | BRCA1 Protein - genetics | Sequence Alignment | Algorithms | BRCA2 Protein - metabolism | Breast Neoplasms - genetics | BRCA1 Protein - metabolism | Base Sequence | Computer Simulation | Female | BRCA2 Protein - chemistry | BRCA1 Protein - chemistry | BRCA2 Protein - genetics | Amino Acid Substitution | Genetic variation | Genetic counseling | Research
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2018, Volume 55, Issue 1, p. 15
Background We previously showed that the BRCA1 variant c.5096G>A p.Arg1699Gln (R1699Q) was associated with an intermediate risk of breast cancer (BC) and...
Clinical Medicine | Medical and Health Sciences | Medicin och hälsovetenskap | Klinisk medicin | Cancer and Oncology | Cancer och onkologi
Clinical Medicine | Medical and Health Sciences | Medicin och hälsovetenskap | Klinisk medicin | Cancer and Oncology | Cancer och onkologi
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 01/2018, Volume 55, Issue 1, p. 15
BACKGROUND: We previously showed that theBRCA1variant c.5096G>A p.Arg1699Gln (R1699Q) was associated with an intermediate risk of breast cancer (BC) and...
Genetics(clinical) | Genetics | Journal Article
Genetics(clinical) | Genetics | Journal Article
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 02/2015, Volume 52, p. 224
Background Inactivating germline mutations in the tumour suppressor gene BRCA1 are associated with a significantly increased risk of developing breast and...
Genetics(clinical) | Research Support, Non-U.S. Gov't | Genetics | Journal Article | Research Support, N.I.H., Extramural
Genetics(clinical) | Research Support, Non-U.S. Gov't | Genetics | Journal Article | Research Support, N.I.H., Extramural
Journal Article
Nature genetics, ISSN 1061-4036, 2010, Volume 42, Issue 10, pp. 885 - 892
Germline BRCA1 mutations predispose to breast cancer. To identify genetic modifiers of this risk, we performed a genome-wide association study in 1,193...
COMMON VARIANTS | ALLELES | COMPLEX | NONSENSE | 2Q35 | GENETICS & HEREDITY | CONFER SUSCEPTIBILITY | OVARIAN-CANCER | ESTROGEN-RECEPTOR | GENOME-WIDE ASSOCIATION | Genetic Predisposition to Disease | Receptors, Estrogen - genetics | Receptor, ErbB-2 - genetics | Humans | Genotype | Receptors, Progesterone - genetics | Mutation - genetics | Case-Control Studies | BRCA1 Protein - genetics | Chromosomes, Human, Pair 19 - genetics | Breast Neoplasms - genetics | Breast Neoplasms - pathology | Polymorphism, Single Nucleotide - genetics | Adult | Female | Demographic aspects | BRCA mutations | Breast cancer | Genetic aspects | Research | Single nucleotide polymorphisms | Health aspects | Risk factors | Ovarian cancer | Studies | Medical research | Mutation | Life Sciences | Other | Medical and Health Sciences | MEDICINE | Medicin och hälsovetenskap | MEDICIN
COMMON VARIANTS | ALLELES | COMPLEX | NONSENSE | 2Q35 | GENETICS & HEREDITY | CONFER SUSCEPTIBILITY | OVARIAN-CANCER | ESTROGEN-RECEPTOR | GENOME-WIDE ASSOCIATION | Genetic Predisposition to Disease | Receptors, Estrogen - genetics | Receptor, ErbB-2 - genetics | Humans | Genotype | Receptors, Progesterone - genetics | Mutation - genetics | Case-Control Studies | BRCA1 Protein - genetics | Chromosomes, Human, Pair 19 - genetics | Breast Neoplasms - genetics | Breast Neoplasms - pathology | Polymorphism, Single Nucleotide - genetics | Adult | Female | Demographic aspects | BRCA mutations | Breast cancer | Genetic aspects | Research | Single nucleotide polymorphisms | Health aspects | Risk factors | Ovarian cancer | Studies | Medical research | Mutation | Life Sciences | Other | Medical and Health Sciences | MEDICINE | Medicin och hälsovetenskap | MEDICIN
Journal Article
Human Mutation, ISSN 1059-7794, 11/2012, Volume 33, Issue 11, pp. 1526 - 1537
Germline mutations in the tumor suppressor gene BRCA1 confer an estimated lifetime risk of 56–80% for breast cancer and 15–60% for ovarian cancer. Since the...
ovarian | VUS | genetic testing | functional analysis | cancer | BRCA1 | breast | Breast | Functional analysis | Ovarian | Genetic testing | Cancer | RNA-POLYMERASE-II | BREAST-CANCER SUSCEPTIBILITY | MISSENSE SUBSTITUTIONS | DNA-DAMAGE RESPONSE | SEQUENCE VARIANTS | TUMOR-SUPPRESSOR BRCA1 | OVARIAN-CANCER | UBIQUITIN-LIGASE | UNKNOWN CLINICAL-SIGNIFICANCE | GENETICS & HEREDITY | E3 LIGASE ACTIVITY | Oligopeptides | Humans | Risk Factors | Transcriptional Activation | Ubiquitin-Protein Ligases - metabolism | Radiation Tolerance - genetics | Male | Bacterial Proteins | Genetic Variation | Ovarian Neoplasms - genetics | BRCA1 Protein - genetics | Breast Neoplasms - genetics | BRCA1 Protein - metabolism | Female | Protein Interaction Domains and Motifs | Transcription Factors | Genes, BRCA1 | BRCA1 Protein - chemistry | Gene mutations | Oncology, Experimental | Genes | Genomics | Research | Universities and colleges | Medicine, Preventive | Genetic screening | Preventive health services | Tumors
ovarian | VUS | genetic testing | functional analysis | cancer | BRCA1 | breast | Breast | Functional analysis | Ovarian | Genetic testing | Cancer | RNA-POLYMERASE-II | BREAST-CANCER SUSCEPTIBILITY | MISSENSE SUBSTITUTIONS | DNA-DAMAGE RESPONSE | SEQUENCE VARIANTS | TUMOR-SUPPRESSOR BRCA1 | OVARIAN-CANCER | UBIQUITIN-LIGASE | UNKNOWN CLINICAL-SIGNIFICANCE | GENETICS & HEREDITY | E3 LIGASE ACTIVITY | Oligopeptides | Humans | Risk Factors | Transcriptional Activation | Ubiquitin-Protein Ligases - metabolism | Radiation Tolerance - genetics | Male | Bacterial Proteins | Genetic Variation | Ovarian Neoplasms - genetics | BRCA1 Protein - genetics | Breast Neoplasms - genetics | BRCA1 Protein - metabolism | Female | Protein Interaction Domains and Motifs | Transcription Factors | Genes, BRCA1 | BRCA1 Protein - chemistry | Gene mutations | Oncology, Experimental | Genes | Genomics | Research | Universities and colleges | Medicine, Preventive | Genetic screening | Preventive health services | Tumors
Journal Article
BMC Cancer, ISSN 1471-2407, 2015, Volume 15, Issue 1, p. 652
BACKGROUND: Preclinical evidence shows that short-term fasting (STF) protects healthy cells against side effects of chemotherapy and makes cancer cells more...
Chemotherapy | Toxicity | Early stage breast cancer | DNA damage | Short-term fasting | LIFE-SPAN | PHOSPHORYLATION | HISTONE H2AX | DIETARY RESTRICTION | INSULIN | REPAIR | ONCOLOGY | GROWTH | GAMMA-H2AX | PERIPHERAL-BLOOD LYMPHOCYTES | RADIOSENSITIVITY | Leukocytes, Mononuclear - metabolism | Fasting | Humans | Middle Aged | Antineoplastic Combined Chemotherapy Protocols - adverse effects | Treatment Outcome | Breast Neoplasms - drug therapy | Breast Neoplasms - metabolism | Pilot Projects | Neoplasm Grading | Time Factors | Antineoplastic Combined Chemotherapy Protocols - therapeutic use | Breast Neoplasms - pathology | Biomarkers | Adult | Breast Neoplasms - mortality | Female | Neoadjuvant Therapy | Aged | DNA Damage | Histones - metabolism | Neoplasm Staging | Receptor, ErbB-2 - deficiency | Complications and side effects | Usage | Care and treatment | Adjuvant treatment | Clinical trials | Breast cancer | Research | Health aspects | Cancer | Comparative analysis
Chemotherapy | Toxicity | Early stage breast cancer | DNA damage | Short-term fasting | LIFE-SPAN | PHOSPHORYLATION | HISTONE H2AX | DIETARY RESTRICTION | INSULIN | REPAIR | ONCOLOGY | GROWTH | GAMMA-H2AX | PERIPHERAL-BLOOD LYMPHOCYTES | RADIOSENSITIVITY | Leukocytes, Mononuclear - metabolism | Fasting | Humans | Middle Aged | Antineoplastic Combined Chemotherapy Protocols - adverse effects | Treatment Outcome | Breast Neoplasms - drug therapy | Breast Neoplasms - metabolism | Pilot Projects | Neoplasm Grading | Time Factors | Antineoplastic Combined Chemotherapy Protocols - therapeutic use | Breast Neoplasms - pathology | Biomarkers | Adult | Breast Neoplasms - mortality | Female | Neoadjuvant Therapy | Aged | DNA Damage | Histones - metabolism | Neoplasm Staging | Receptor, ErbB-2 - deficiency | Complications and side effects | Usage | Care and treatment | Adjuvant treatment | Clinical trials | Breast cancer | Research | Health aspects | Cancer | Comparative analysis
Journal Article
Human Mutation, ISSN 1059-7794, 02/2014, Volume 35, Issue 2, pp. 151 - 164
ABSTRACT Missense variants in the BRCA2 gene are routinely detected during clinical screening for pathogenic mutations in patients with a family history of...
variants of uncertain significance | VUS | ovarian cancer | genetic testing | functional analysis | breast cancer | BRCA2 | Breast cancer | Functional analysis | Variants of uncertain significance | Genetic testing | Ovarian cancer | POLY(ADP-RIBOSE) POLYMERASE | CELL-BASED ASSAY | BREAST-CANCER SUSCEPTIBILITY | MISSENSE SUBSTITUTIONS | DNA-SEQUENCE VARIANTS | SINGLE-STRANDED-DNA | FANCONI-ANEMIA | UNKNOWN CLINICAL-SIGNIFICANCE | GENETICS & HEREDITY | GERMLINE MUTATIONS | HOMOLOGY-DIRECTED REPAIR | Genetic Predisposition to Disease | Reproducibility of Results | Ovarian Neoplasms - diagnosis | Humans | Mutation, Missense | Genetic Techniques | BRCA2 Protein - physiology | Genetic Variation | Ovarian Neoplasms - genetics | Animals | Breast Neoplasms - genetics | Cell Cycle | DNA Repair | Genes, BRCA2 | Female | Breast Neoplasms - diagnosis | BRCA2 Protein - genetics | Medical research | DNA repair | Cell cycle
variants of uncertain significance | VUS | ovarian cancer | genetic testing | functional analysis | breast cancer | BRCA2 | Breast cancer | Functional analysis | Variants of uncertain significance | Genetic testing | Ovarian cancer | POLY(ADP-RIBOSE) POLYMERASE | CELL-BASED ASSAY | BREAST-CANCER SUSCEPTIBILITY | MISSENSE SUBSTITUTIONS | DNA-SEQUENCE VARIANTS | SINGLE-STRANDED-DNA | FANCONI-ANEMIA | UNKNOWN CLINICAL-SIGNIFICANCE | GENETICS & HEREDITY | GERMLINE MUTATIONS | HOMOLOGY-DIRECTED REPAIR | Genetic Predisposition to Disease | Reproducibility of Results | Ovarian Neoplasms - diagnosis | Humans | Mutation, Missense | Genetic Techniques | BRCA2 Protein - physiology | Genetic Variation | Ovarian Neoplasms - genetics | Animals | Breast Neoplasms - genetics | Cell Cycle | DNA Repair | Genes, BRCA2 | Female | Breast Neoplasms - diagnosis | BRCA2 Protein - genetics | Medical research | DNA repair | Cell cycle
Journal Article