Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families

scientific article published on 21 August 2012

Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.3892/IJO.2012.1595
P932PMC publication ID3583621
P698PubMed publication ID22923021
P5875ResearchGate publication ID230743452

P2093author name stringMarko Hočevar
Janez Zgajnar
Petra Cerkovnik
Vida Stegel
Srdjan Novaković
Mateja Krajc
Aleš Vakselj
Maša Milatović
P2860cites workPurified human BRCA2 stimulates RAD51-mediated recombinationQ24297031
Maspin is a tumour suppressor that inhibits breast cancer tumour metastasis in vivoQ24802539
BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structureQ27639649
Maspin sensitizes breast carcinoma cells to induced apoptosisQ28201692
Unraveling the mechanism of BRCA2 in homologous recombinationQ28242443
Biallelic inactivation of BRCA2 in Fanconi anemiaQ29616130
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE studyQ30433040
A novel BRCA-1 mutation in Arab kindred from east Jerusalem with breast and ovarian cancerQ33269617
Heterogenic loss of the wild-type BRCA allele in human breast tumorigenesisQ33289120
The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian populationQ33792732
Efficiency of BRCAPRO and Myriad II mutation probability thresholds versus cancer history criteria alone for BRCA1/2 mutation detectionQ33853726
Estrogen receptor positive breast cancers in BRCA1 mutation carriers: clinical risk factors and pathologic featuresQ33892942
Variation in cancer risks, by mutation position, in BRCA2 mutation carriersQ34044197
Estimates of cancer incidence and mortality in Europe in 2008.Q34095813
Plasticity of BRCA2 function in homologous recombination: genetic interactions of the PALB2 and DNA binding domains.Q34109816
Understanding missense mutations in the BRCA1 gene: an evolutionary approachQ34329529
Cancer Incidence in BRCA1 mutation carriersQ34527264
A high proportion of founder BRCA1 mutations in Polish breast cancer familiesQ34548008
A novel de novo BRCA1 mutation in a Chinese woman with early onset breast cancer.Q35000825
BRCA2 is a moderate penetrance gene contributing to young-onset prostate cancer: implications for genetic testing in prostate cancer patientsQ35527158
Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from GreeceQ35619211
Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databasesQ35630889
Time to reconsider subcutaneous mastectomy for breast-cancer prevention?Q36145219
BRCA1, a potential predictive biomarker in the treatment of breast cancerQ36734477
Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.Q37004481
Hereditary breast cancer: part I. Diagnosing hereditary breast cancer syndromesQ37034495
BRCA1 and BRCA2: different roles in a common pathway of genome protectionQ37149848
The BRC repeats of human BRCA2 differentially regulate RAD51 binding on single- versus double-stranded DNA to stimulate strand exchangeQ37272458
American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibilityQ37672016
Poly(ADP)-ribose polymerase inhibition: frequent durable responses in BRCA carrier ovarian cancer correlating with platinum-free intervalQ39712677
Two modules in the BRC repeats of BRCA2 mediate structural and functional interactions with the RAD51 recombinase.Q39781851
Deficient nonhomologous end-joining activity in cell-free extracts from Brca1-null fibroblasts.Q40717542
Genetic susceptibility to breast cancerQ41130542
Contribution of BRCA2 germline mutations to hereditary breast/ovarian cancer in GermanyQ43074872
Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, CanadaQ44116893
Two functionally relevant polymorphisms in the human progesterone receptor gene (+331 G/A and progins) and the predisposition for breast and/or ovarian cancerQ46855999
Molecular profile and clinical variables in BRCA1-positive breast cancers. A population-based study.Q46926668
Three novel BRCA1/BRCA2 mutations in breast/ovarian cancer families in CroatiaQ50060965
Comparative disease pattern of a patient with a novel BRCA2 truncation and knockout models for BRCA2.Q54441588
[Analysis of BRCA2 gene mutations among familial and/or early-onset breast cancer patients in eastern Shandong of China].Q54538510
Clinical implications for BRCA gene mutation in breast cancer.Q54580068
A DGGE system for comprehensive mutation screening ofBRCA1andBRCA2: application in a Dutch cancer clinic settingQ57200495
Risk of cancer other than breast or ovarian in individuals with BRCA1 and BRCA2 mutationsQ57266547
Clinical Classification ofBRCA1andBRCA2DNA Sequence Variants: The Value of Cytokeratin Profiles and Evolutionary Analysis—A Report From the kConFab InvestigatorsQ57306048
Unclassified variants in BRCA genes: guidelines for interpretationQ60170551
Variation of risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 geneQ71955901
Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutationsQ73376457
TBX2 is preferentially amplified in BRCA1- and BRCA2-related breast tumorsQ74409735
Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer riskQ74784103
Germline BRCA1 alterations in a population-based series of ovarian cancer casesQ77298998
Pathologic characteristics of breast parenchyma in patients with hereditary breast carcinoma, including BRCA1 and BRCA2 mutation carriersQ78688118
EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patientsQ82682188
Low prevalence of (pre) malignant lesions in the breast and high prevalence in the ovary and Fallopian tube in women at hereditary high risk of breast and ovarian cancerQ83155542
BRCA1 and BRCA2 mutations in a South American populationQ83157294
Fanconi anemia gene mutations are not involved in sporadic Wilms tumorQ84505265
BRCA1 185delAG mutant protein, BRAt, up-regulates maspin in ovarian epithelial cellsQ84886081
P433issue5
P407language of work or nameEnglishQ1860
P921main subjectovarian cancerQ172341
P304page(s)1619-1627
P577publication date2012-08-21
P1433published inInternational Journal of OncologyQ6051527
P1476titleNovel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families
P478volume41

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cites work (P2860)
Q42181679A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer
Q39199102Aggregate penetrance of genomic variants for actionable disorders in European and African Americans
Q36286597BRCA1, BRCA2 and PALB2 mutations and CHEK2 c.1100delC in different South African ethnic groups diagnosed with premenopausal and/or triple negative breast cancer
Q35710253Characterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroup
Q38836844Functional Analysis of BARD1 Missense Variants in Homology-Directed Repair of DNA Double Strand Breaks
Q38663391Genetic Counselling, BRCA1/2 Status and Clinico-pathologic Characteristics of Patients with Ovarian Cancer before 50 Years of Age.
Q91081319Germline mutations in cancer susceptibility genes in high grade serous ovarian cancer in Serbia
Q48163026Novel BRCA1 splice-site mutation in ovarian cancer patients of Slavic origin.
Q94585170The contribution of large genomic rearrangements in BRCA1 and BRCA2 to South African familial breast cancer
Q47196697The first case report of a large deletion of the BRCA1 gene in Croatia: A case report

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