Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource. - Wikidata - wikimedia - TriplyDB

Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource.

Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource.

http://www.wikidata.org/entity/Q34480599

about

Anti-Müllerian hormone serum concentrations of women with germline BRCA1 or BRCA2 mutations Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers Rare mutations in XRCC2 increase the risk of breast cancer BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression Use of DNA-damaging agents and RNA pooling to assess expression profiles associated with BRCA1 and BRCA2 mutation status in familial breast cancer patients.Diagnostic chest X-rays and breast cancer risk before age 50 years for BRCA1 and BRCA2 mutation carriers.DNA methylome of familial breast cancer identifies distinct profiles defined by mutation status.Bayes analysis provides evidence of pathogenicity for the BRCA1 c.135-1G>T (IVS3-1) and BRCA2 c.7977-1G>C (IVS17-1) variants displaying in vitro splicing results of equivocal clinical significance Association between a germline OCA2 polymorphism at chromosome 15q13.1 and estrogen receptor-negative breast cancer survival Smoking and risk of breast cancer in carriers of mutations in BRCA1 or BRCA2 aged less than 50 years.Local therapy in BRCA1 and BRCA2 mutation carriers with operable breast cancer: comparison of breast conservation and mastectomy.Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.Germline mutations in CDH1 are infrequent in women with early-onset or familial lobular breast cancers.High grade prostatic intraepithelial neoplasia does not display loss of heterozygosity at the mutation locus in BRCA2 mutation carriers with aggressive prostate cancer.Genotypic and phenotypic analysis of familial male breast cancer shows under representation of the HER2 and basal subtypes in BRCA-associated carcinomas.Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity Analysis of RAD51D in ovarian cancer patients and families with a history of ovarian or breast cancer A PALB2 mutation associated with high risk of breast cancer.Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study.Variation in the RAD51 gene and familial breast cancer.Adequacy of risk-reducing gynaecologic surgery in BRCA1 or BRCA2 mutation carriers and other women at high risk of pelvic serous cancer.Rare variants in the ATM gene and risk of breast cancer BRCA1 and BRCA1 Genes and Inherited Breast and/or Ovarian Cancer: Benefits of Genetic Testing.Advances in breast cancer: pathways to personalized medicine 11q13 is a susceptibility locus for hormone receptor positive breast cancer.Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control.Germline copy number variants are not associated with globally acquired copy number changes in familial breast tumours.BCoR-L1 variation and breast cancer.Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?DNA methylation profiling to assess pathogenicity of BRCA1 unclassified variants in breast cancer.Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families Tumour morphology predicts PALB2 germline mutation status.Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers.Prostate screening uptake in Australian BRCA1 and BRCA2 carriers.Modification of ovarian cancer risk by BRCA1/2-interacting genes in a multicenter cohort of BRCA1/2 mutation carriers.Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer The contribution of BRCA1 and BRCA2 to ovarian cancer.Optimizing recruitment to a prostate cancer surveillance program among male BRCA1 mutation carriers: invitation by mail or by telephone.Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.

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P2860

Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource.

http://www.wikidata.org/entity/Q34480599

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2006 nî lūn-bûn

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2006 թուականի Փետրուարին հրատարակուած գիտական յօդուած

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2006 թվականի փետրվարին հրատարակված գիտական հոդված

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2006年の論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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2006年论文

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Analysis of cancer risk and BR ...... milial breast cancer resource.

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Analysis of cancer risk and BR ...... milial breast cancer resource.

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Analysis of cancer risk and BR ...... milial breast cancer resource.

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Breast Cancer Research

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Analysis of cancer risk and BR ...... milial breast cancer resource.

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Clare L Scott

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Edward Edkins

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Eric Haan

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Eveline Niedermayr

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Gerda M Evans

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Graeme Suthers

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Gulietta M Pupo

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Jennifer A Leary

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Judy Kirk

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P2860

Dominant Negative ATM Mutations in Breast Cancer Families

The intronic G13964C variant in p53 is not a high-risk mutation in familial breast cancer in Australia

The Breast Cancer Family Registry: an infrastructure for cooperative multinational, interdisciplinary and translational studies of the genetic epidemiology of breast cancer

No germline mutations in the histone acetyltransferase gene EP300 in BRCA1 and BRCA2 negative families with breast cancer and gastric, pancreatic, or colorectal cancer

A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1

Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations

Identification of the breast cancer susceptibility gene BRCA2

Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium

Denaturing high-performance liquid chromatography: A review.

Evaluation of linkage of breast cancer to the putative BRCA3 locus on chromosome 13q21 in 128 multiple case families from the Breast Cancer Linkage Consortium

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10.1186/BCR1377

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1

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8

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Georgia Chenevix-Trench

Graham G. Giles

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Kelly-Anne Phillips

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2006-02-13T00:00:00Z

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