Contribution of large genomic BRCA1 alterations to early-onset breast cancer selected for family history and tumour morphology: a report from The Breast Cancer Family Registry (Q35029565)

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English	Contribution of large genomic BRCA1 alterations to early-onset breast cancer selected for family history and tumour morphology: a report from The Breast Cancer Family Registry	scientific article

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scholarly article

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5 August 2017

Contribution of large genomic BRCA1 alterations to early-onset breast cancer selected for family history and tumour morphology: a report from The Breast Cancer Family Registry (English)

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Susan J Ramus

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Melissa C. Southey

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Melissa C Southey

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Anna Marie Mulligan

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Anna Marie Mulligan

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John L Hopper

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5 August 2017

Irene L Andrulis

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Irene L Andrulis

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Esther M John

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Mary Beth Terry

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Mary Beth Terry

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Saundra S. Buys

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Saundra S Buys

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David E Goldgar

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Mary B Daly

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Regina M. Santella

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Regina M Santella

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Andrew K Godwin

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Andrew K Godwin

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Andrea A. Tesoriero

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Andrea A Tesoriero

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Ruby T Senie

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author name string

Letitia D Smith

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Ee M Wong

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Frances P O'Malley

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Hilmi Ozcelik

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5 August 2017

publication date

31 January 2011

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5 August 2017

Breast Cancer Research

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13

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1

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5 August 2017

R14

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5 August 2017

Morphological predictors of BRCA1 germline mutations in young women with breast cancer.

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109582

8 July 2018

Population-based estimate of the contribution of TP53 mutations to subgroups of early-onset breast cancer: Australian Breast Cancer Family Study

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109582

8 July 2018

Incorporating tumour pathology information into breast cancer risk prediction algorithms

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109582

8 July 2018

Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109582

8 July 2018

In silico analysis of missense substitutions using sequence-alignment based methods

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109582

8 July 2018

BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: an open resource for collaborative research

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109582

8 July 2018

The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109582

8 July 2018

BRCA1 promoter deletions in young women with breast cancer and a strong family history: a population-based study

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109582

8 July 2018

Optimal selection of individuals for BRCA mutation testing: a comparison of available methods

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109582

8 July 2018

Interobserver agreement and reproducibility in classification of invasive breast carcinoma: an NCI breast cancer family registry study

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109582

8 July 2018

Large genomic deletions inactivate the BRCA2 gene in breast cancer families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109582

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109582

8 July 2018

Individual and family characteristics associated with protein truncating BRCA1 and BRCA2 mutations in an Ontario population based series from the Cooperative Family Registry for Breast Cancer Studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109582

8 July 2018

Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109582

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109582

8 July 2018

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109582

8 July 2018

Dominant Negative ATM Mutations in Breast Cancer Families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109582

8 July 2018

BRCA1 mutations and other sequence variants in a population-based sample of Australian women with breast cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109582

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109582

8 July 2018

BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3109582

8 July 2018

The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2.

1 reference

https://api.crossref.org/works/10.1186%2FBCR2822

21 January 2018

Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications.

1 reference

https://api.crossref.org/works/10.1186%2FBCR2822

21 January 2018

Screening for genomic rearrangements in BRCA1 and BRCA2 genes in Czech high-risk breast/ovarian cancer patients: high proportion of population specific alterations in BRCA1 gene

1 reference

https://api.crossref.org/works/10.1186%2FBCR2822

21 January 2018

Deletion of exons 1a-2 of BRCA1: a rather frequent pathogenic abnormality.

1 reference

https://api.crossref.org/works/10.1186%2FBCR2822

21 January 2018

Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family Registry

1 reference

https://api.crossref.org/works/10.1186%2FBCR2822

21 January 2018

Prevalence ofBRCA1 genomic rearrangements in a large cohort of Italian breast and breast/ovarian cancer families without detectableBRCA1 andBRCA2 point mutations

1 reference

https://api.crossref.org/works/10.1186%2FBCR2822

21 January 2018

Familial Risks, Early-Onset Breast Cancer, and BRCA1 and BRCA2 Germline Mutations

1 reference

https://api.crossref.org/works/10.1186%2FBCR2822

21 January 2018

Mutation analysis of BRCA1 and BRCA2 cancer predisposition genes in radiation hypersensitive cancer patients

1 reference

https://api.crossref.org/works/10.1186%2FBCR2822

21 January 2018

The histologic phenotypes of breast carcinoma occurring before age 40 years in women with and without BRCA1 or BRCA2 germline mutations: a population-based study

1 reference

https://pubmed.ncbi.nlm.nih.gov/21281505

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Population-based estimate of the average age-specific cumulative risk of breast cancer for a defined set of protein-truncating mutations in BRCA1 and BRCA2. Australian Breast Cancer Family Study

1 reference

https://pubmed.ncbi.nlm.nih.gov/21281505

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/BCR2822

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Dimensions Publication ID

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PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

ResearchGate publication ID

0 references

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