BRCA1 and BRCA2: 1994 and beyond (Q34345297)

1 August 2017

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title

BRCA1 and BRCA2: 1994 and beyond (English)

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1 August 2017

author

William David Foulkes

object named as

William D Foulkes

series ordinal

2

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Steven A. Narod

series ordinal

1

object named as

Steven A Narod

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1 August 2017

language of work or name

English

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publication date

1 September 2004

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1 August 2017

published in

Nature Reviews Cancer

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1 August 2017

volume

4

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1 August 2017

issue

9

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1 August 2017

page(s)

665-676

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

1 August 2017

cites work

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Linkage of early-onset familial breast cancer to chromosome 17q21

31 March 2020

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Familial male breast cancer is not linked to the BRCA1 locus on chromosome 17q.

31 March 2020

1 reference

Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13.

31 March 2020

1 reference

Identification of the breast cancer susceptibility gene BRCA2

31 March 2020

1 reference

BRCA1--lots of mutations, lots of dilemmas

31 March 2020

1 reference

Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations

31 March 2020

1 reference

Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group

31 March 2020

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Hereditary breast and ovarian cancer in Asia: genetic epidemiology of BRCA1 and BRCA2.

31 March 2020

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Ethnicity, but not cancer family history, is related to response to a population-based mailed questionnaire

31 March 2020

1 reference

Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families

31 March 2020

1 reference

Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer

31 March 2020

1 reference

Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families

31 March 2020

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Rapid detection of BRCA1 mutations by the protein truncation test

31 March 2020

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Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

31 March 2020

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Detection of base mutations in genomic DNA using denaturing gradient gel electrophoresis (DGGE) followed by transfer and hybridization with gene-specific probes

31 March 2020

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Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations

31 March 2020

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Comparison of DNA- and RNA-based methods for detection of truncating BRCA1 mutations

31 March 2020

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Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1.

31 March 2020

1 reference

Color bar coding the BRCA1 gene on combed DNA: a useful strategy for detecting large gene rearrangements

31 March 2020

1 reference

Bar code screening on combed DNA for large rearrangements of the BRCA1 and BRCA2 genes in French breast cancer families

31 March 2020

1 reference

An Alu-mediated 7.1 kb deletion of BRCA1 exons 8 and 9 in breast and ovarian cancer families that results in alternative splicing of exon 10

31 March 2020

1 reference

Genetic analysis of BRCA1 function in a defined tumor cell line

31 March 2020

1 reference

Human BRCA1 inhibits growth in yeast: potential use in diagnostic testing

31 March 2020

1 reference

The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%

31 March 2020

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Incidence of non-founder BRCA1 and BRCA2 mutations in high risk Ashkenazi breast and ovarian cancer families

31 March 2020

1 reference

A low frequency of non-founder BRCA1 mutations in Ashkenazi Jewish breast-ovarian cancer families

31 March 2020

1 reference

The effect of a single BRCA2 mutation on cancer in Iceland

31 March 2020

1 reference

A high proportion of founder BRCA1 mutations in Polish breast cancer families

31 March 2020

1 reference

Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer

31 March 2020

1 reference

Variation in cancer risks, by mutation position, in BRCA2 mutation carriers

31 March 2020

1 reference

Two percent of men with early-onset prostate cancer harbor germline mutations in the BRCA2 gene

31 March 2020

1 reference

The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews

31 March 2020

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Prevalence and Penetrance of BRCA1 and BRCA2 Gene Mutations in Unselected Ashkenazi Jewish Women With Breast Cancer

31 March 2020

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Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families

31 March 2020

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Modifiers of risk of hereditary breast and ovarian cancer

31 March 2020

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Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation

31 March 2020

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Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation

31 March 2020

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Breast cancer risk after bilateral prophylactic oophorectomy in BRCA1 mutation carriers

31 March 2020

1 reference

In search of the tumour-suppressor functions of BRCA1 and BRCA2

31 March 2020

1 reference

Cancer susceptibility and the functions of BRCA1 and BRCA2

31 March 2020

1 reference

Tracing the network connecting BRCA and Fanconi anaemia proteins

31 March 2020

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Association of BRCA1 with Rad51 in mitotic and meiotic cells

31 March 2020

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Embryonic lethality and radiation hypersensitivity mediated by Rad51 in mice lacking Brca2

31 March 2020

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RAB22 and RAB163/mouse BRCA2: proteins that specifically interact with the RAD51 protein

31 March 2020

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RAD51 interacts with the evolutionarily conserved BRC motifs in the human breast cancer susceptibility gene brca2

31 March 2020

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BRCA1 expression modulates chemosensitivity of BRCA1-defective HCC1937 human breast cancer cells

31 March 2020

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Involvement of Brca2 in DNA repair

31 March 2020

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Association of BRCA1 with the hRad50-hMre11-p95 complex and the DNA damage response

31 March 2020

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BRCA1 induces DNA damage recognition factors and enhances nucleotide excision repair.

31 March 2020

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From BRCA1 to RAP1: a widespread BRCT module closely associated with DNA repair

31 March 2020

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Centrosome amplification and a defective G2-M cell cycle checkpoint induce genetic instability in BRCA1 exon 11 isoform-deficient cells

31 March 2020

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The tumor suppressor gene Brca1 is required for embryonic cellular proliferation in the mouse

31 March 2020

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Partial rescue of Brca1 (5-6) early embryonic lethality by p53 or p21 null mutation.

31 March 2020

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Functions of the BRCA1 and BRCA2 genes

31 March 2020

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Identification of a RING protein that can interact in vivo with the BRCA1 gene product

31 March 2020

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The RING heterodimer BRCA1-BARD1 is a ubiquitin ligase inactivated by a breast cancer-derived mutation

31 March 2020

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Germline mutations of the BRCA1-associated ring domain (BARD1) gene in breast and breast/ovarian families negative for BRCA1 and BRCA2 alterations

31 March 2020

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Mutational analysis of BARD1 in familial breast cancer patients in Japan

31 March 2020

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BRCA1 : BARD1 induces the formation of conjugated ubiquitin structures, dependent on K6 of ubiquitin, in cells during DNA replication and repair

31 March 2020

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BRCA1 is associated with a human SWI/SNF-related complex: linking chromatin remodeling to breast cancer

31 March 2020

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Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer

31 March 2020

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BRCA1 interacts with components of the histone deacetylase complex

31 March 2020

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BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function

31 March 2020

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EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer

31 March 2020

1 reference

31 March 2020

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Biallelic inactivation of BRCA2 in Fanconi anemia

31 March 2020

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Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia

31 March 2020

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BRCA1: the enigma of tissue-specific tumor development.

31 March 2020

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The BRCA1 suppressor hypothesis: An explanation for the tissue-specific tumor development in BRCA1 patients

31 March 2020

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Clinico-pathological characteristics of BRCA1- and BRCA2-related breast cancer.

31 March 2020

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Estrogen receptor-negative epithelial cells in mouse mammary gland development and growth

31 March 2020

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Hormonal regulation of apoptosis in breast cells and tissues

31 March 2020

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Antiestrogens are pro‐apoptotic in normal human breast epithelial cells

31 March 2020

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The relative importance of proliferation and cell death in breast cancer growth and response to tamoxifen

31 March 2020

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Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies

31 March 2020

1 reference

Pathologic characteristics of breast parenchyma in patients with hereditary breast carcinoma, including BRCA1 and BRCA2 mutation carriers

31 March 2020

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High Prevalence of Premalignant Lesions in Prophylactically Removed Breasts From Women at Hereditary Risk for Breast Cancer

31 March 2020

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Epithelial lesions in prophylactic mastectomy specimens from women withBRCA mutations

31 March 2020

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Germ-line mutations in BRCA1 or BRCA2 in the normal breast are associated with altered expression of estrogen-responsive proteins and the predominance of progesterone receptor A.

31 March 2020

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Microscopic benign and invasive malignant neoplasms and a cancer-prone phenotype in prophylactic oophorectomies

31 March 2020

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Comparison of prophylactic oophorectomy specimens from carriers and noncarriers of a BRCA1 or BRCA2 gene mutation. United Kingdom Coordinating Committee on Cancer Research (UKCCCR) Familial Ovarian Cancer Study Group

31 March 2020

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Absence of premalignant histologic, molecular, or cell biologic alterations in prophylactic oophorectomy specimens fromBRCA1 heterozygotes

31 March 2020

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Inheritance of proliferative breast disease in breast cancer kindreds

31 March 2020

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Occult carcinoma in prophylactic oophorectomy specimens: prevalence and association with BRCA germline mutation status

31 March 2020

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Gamma-rays-induced death of human cells carrying mutations of BRCA1 or BRCA2

31 March 2020

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A single mutated BRCA1 allele leads to impaired fidelity of double strand break end-joining.

31 March 2020

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Fidelity of DNA double-strand break repair in heterozygous cell lines harbouring BRCA1 missense mutations

31 March 2020

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High allele loss rates at 17q12-q21 in breast and ovarian tumors from BRCAl-linked families. The Breast Cancer Linkage Consortium

31 March 2020

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Allele losses in the region 17q12-21 in familial breast and ovarian cancer involve the wild-type chromosome

31 March 2020

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BRCA1 mutations in primary breast and ovarian carcinomas

31 March 2020

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Mutation screening of BRCA1 using PTT and LOH analysis at 17q21 in breast carcinomas from familial and non-familial cases

31 March 2020

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Somatic mutations in the BRCA1 gene in sporadic ovarian tumours.

31 March 2020

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A somatic BRCA1 mutation in an ovarian tumour

31 March 2020

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Roads leading to breast cancer

31 March 2020

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31 March 2020

Roads to breast cancer

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BRCA1 functions as a breast stem cell regulator

31 March 2020

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Methylation of the BRCA1 promoter region in sporadic breast and ovarian cancer: correlation with disease characteristics

31 March 2020

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Promoter hypermethylation and BRCA1 inactivation in sporadic breast and ovarian tumors

31 March 2020

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Decreased expression of BRCA1 accelerates growth and is often present during sporadic breast cancer progression

31 March 2020

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Down-regulation of BRCA1 in human sporadic breast cancer; analysis of DNA methylation patterns of the putative promoter region

31 March 2020

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BRCA1 expression levels predict distant metastasis of sporadic breast cancers

31 March 2020

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Prognostic significance of BRCA1 expression in sporadic breast carcinomas

31 March 2020

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Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations

31 March 2020

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Assessing the risk of BRCA1-associated breast cancer using individual morphological criteria

31 March 2020

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HER-2/neu status and tumor morphology of invasive breast carcinomas in Ashkenazi women with known BRCA1 mutation status in the Ontario Familial Breast Cancer Registry

31 March 2020

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Molecular portraits of human breast tumours

31 March 2020

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Gene expression profiling predicts clinical outcome of breast cancer

31 March 2020

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Repeated observation of breast tumor subtypes in independent gene expression data sets

31 March 2020

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Germline BRCA1 mutations and a basal epithelial phenotype in breast cancer

31 March 2020

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Cytogenetic alterations and cytokeratin expression patterns in breast cancer: integrating a new model of breast differentiation into cytogenetic pathways of breast carcinogenesis.

31 March 2020

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31 March 2020

Hereditary breast cancer

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Are BRCA1- and BRCA2-related breast cancers associated with increased mortality?

31 March 2020

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A combined analysis of outcome following breast cancer: differences in survival based on BRCA1/BRCA2 mutation status and administration of adjuvant treatment

31 March 2020

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A significant response to neoadjuvant chemotherapy in BRCA1/2 related breast cancer

31 March 2020

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Disruption of the expected positive correlation between breast tumor size and lymph node status in BRCA1-related breast carcinoma

31 March 2020

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Impact of germline BRCA1 mutations and overexpression of p53 on prognosis and response to treatment following breast carcinoma: 10-year follow up data

31 March 2020

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Survival in prospectively ascertained familial breast cancer: Analysis of a series stratified by tumour characteristics,BRCAmutations and oophorectomy

31 March 2020

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Survival of breast cancer patients in BRCA1, BRCA2, and non-BRCA1/2 breast cancer families: a relative survival analysis from Finland

31 March 2020

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Contralateral breast cancer in BRCA1 and BRCA2 mutation carriers

31 March 2020

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Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study. Hereditary Breast Cancer Clinical Study Group

31 March 2020

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Gene-Expression Profiles in Hereditary Breast Cancer

31 March 2020

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BRCA1 and BRCA2 mutation analysis of 208 Ashkenazi Jewish women with ovarian cancer

31 March 2020

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Clinicopathologic features of BRCA-linked and sporadic ovarian cancer

31 March 2020

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Rates of Jewish ancestral mutations in BRCA1 and BRCA2 in borderline ovarian tumors

31 March 2020

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Gene expression profiles of BRCA1-linked, BRCA2-linked, and sporadic ovarian cancers

31 March 2020

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Breast cancer susceptibility-A new look at an old model

31 March 2020

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Evidence for a third breast-cancer susceptibility gene

31 March 2020

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Strong indication for a breast cancer susceptibility gene on chromosome 8p12-p22: linkage analysis in German breast cancer families

31 March 2020

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Somatic deletions in hereditary breast cancers implicate 13q21 as a putative novel breast cancer susceptibility locus

31 March 2020

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Absence of evidence for a familial breast cancer susceptibility gene at chromosome 8p12-p22

31 March 2020

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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

31 March 2020

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After BRCA1 and BRCA2-what next? Multifactorial segregation analyses of three-generation, population-based Australian families affected by female breast cancer

31 March 2020

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Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan

31 March 2020

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Molecular classification of familial non-BRCA1/BRCA2 breast cancer

31 March 2020

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Polygenic susceptibility to breast cancer and implications for prevention

31 March 2020

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Cancer and cardiac deaths in obligatory ataxia-telangiectasia heterozygotes

31 March 2020

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Cancer risks in A-T heterozygotes

31 March 2020

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Dominant Negative ATM Mutations in Breast Cancer Families

31 March 2020

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Heterozygous ATM mutations do not contribute to early onset of breast cancer

31 March 2020

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Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer

31 March 2020

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Cancer risk in ATM heterozygotes: a model of phenotypic and mechanistic differences between missense and truncating mutations

31 March 2020

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ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer

31 March 2020

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Are ATM mutations 7271T-->G and IVS10-6T-->G really high-risk breast cancer-susceptibility alleles?

31 March 2020

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Characterization of tumor-associated Chk2 mutations

31 March 2020

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

31 March 2020

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A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer

31 March 2020

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Frequency of CHEK2*1100delC in New York breast cancer cases and controls

31 March 2020

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Ataxia telangiectasia-mutated phosphorylates Chk2 in vivo and in vitro

31 March 2020

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Mammalian Chk2 is a downstream effector of the ATM-dependent DNA damage checkpoint pathway

31 March 2020

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The ATM-Chk2-Cdc25A checkpoint pathway guards against radioresistant DNA synthesis

31 March 2020

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hCds1-mediated phosphorylation of BRCA1 regulates the DNA damage response

31 March 2020

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Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome

31 March 2020

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Homologous repair of DNA damage and tumorigenesis: the BRCA connection

31 March 2020

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31 March 2020

Identifiers

DOI

10.1038/NRC1431

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Dimensions Publication ID

1 August 2017

1016211736

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