(Q35146870)

6 August 2017

title

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing (English)

1 reference

6 August 2017

main subject

whole genome sequencing

1 reference

7

John E Niederhuber

0 references

author name string

Dale L Bodian

1

1 reference

6 August 2017

Justine N McCutcheon

2

1 reference

6 August 2017

Prachi Kothiyal

3

1 reference

6 August 2017

Kathi C Huddleston

4

1 reference

6 August 2017

Ramaswamy K Iyer

5

1 reference

6 August 2017

Joseph G Vockley

6

1 reference

6 August 2017

John E Niederhuber

7

1 reference

6 August 2017

language of work or name

English

0 references

publication date

11 April 2014

1 reference

6 August 2017

1 reference

6 August 2017

volume

9

1 reference

6 August 2017

issue

4

1 reference

6 August 2017

page(s)

e94554

1 reference

Creative Commons Attribution 4.0 International

6 August 2017

copyright license

start time

11 April 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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Recommendations for returning genomic incidental findings? We need to talk!

28 July 2018

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Geneticists push for global data-sharing

28 July 2018

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Functional and structural analysis of C-terminal BRCA1 missense variants

28 July 2018

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Diagnostic cancer genome sequencing and the contribution of germline variants

28 July 2018

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28 July 2018

Cancer genome landscapes

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Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing.

28 July 2018

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Large-scale genotyping identifies 41 new loci associated with breast cancer risk

28 July 2018

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A Method for Inferring an Individual's Genetic Ancestry and Degree of Admixture Associated with Six Major Continental Populations

28 July 2018

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28 July 2018

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A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity

28 July 2018

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Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes

28 July 2018

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Evolution and functional impact of rare coding variation from deep sequencing of human exomes

28 July 2018

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Risk prediction models for colorectal cancer: a review

28 July 2018

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Risk prediction models of breast cancer: a systematic review of model performances

28 July 2018

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Accurate and comprehensive sequencing of personal genomes

28 July 2018

1 reference

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A risk prediction algorithm based on family history and common genetic variants: application to prostate cancer with potential clinical impact

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

The variant call format and VCFtools

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

Genetic testing and cancer risk management recommendations by physicians for at-risk relatives

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

Statistical analysis strategies for association studies involving rare variants

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

Myelosuppression by sunitinib is flt-3 genotype dependent.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

Germline genetic variation, cancer outcome, and pharmacogenetics

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

Rare genetic variants and the risk of cancer

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

Challenges of sequencing human genomes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

Architecture of inherited susceptibility to common cancer

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

A method and server for predicting damaging missense mutations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

COSMIC (the Catalogue of Somatic Mutations in Cancer): a resource to investigate acquired mutations in human cancer

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

BRCA1 and BRCA2 mutations across race and ethnicity: distribution and clinical implications

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

Pharmacogenetic pathway analysis for determination of sunitinib-induced toxicity

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

Fast model-based estimation of ancestry in unrelated individuals

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

p53 polymorphisms: cancer implications

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

The role of PTEN signaling perturbations in cancer and in targeted therapy

28 July 2018

1 reference

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Genomic profiling of 766 cancer-related genes in archived esophageal normal and carcinoma tissues

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

PLINK: a tool set for whole-genome association and population-based linkage analyses

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

Molecular circuits shared by placental and cancer cells, and their implications in the proliferative, invasive and migratory capacities of trophoblasts

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

Intronic alterations in BRCA1 and BRCA2: effect on mRNA splicing fidelity and expression

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

Functional nsSNPs from carcinogenesis-related genes expressed in breast tissue: potential breast cancer risk alleles and their distribution across human populations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

SNP500Cancer: a public resource for sequence validation, assay development, and frequency analysis for genetic variation in candidate genes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

Latino populations: a unique opportunity for the study of race, genetics, and social environment in epidemiological research

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

Germline mutations of the E-cadherin(CDH1) and TP53 genes, rather than of RUNX3 and HPP1, contribute to genetic predisposition in German gastric cancer patients

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

Trophoblast 'pseudo-tumorigenesis': significance and contributory factors

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

A census of human cancer genes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

A human genome diversity cell line panel

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

Crystal structure of the BRCT repeat region from the breast cancer-associated protein BRCA1

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

Are rare variants responsible for susceptibility to complex diseases?

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

Initial sequencing and analysis of the human genome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

Crystal structure of a p53 tumor suppressor-DNA complex: understanding tumorigenic mutations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

A polybasic domain or palmitoylation is required in addition to the CAAX motif to localize p21ras to the plasma membrane

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

The UCSC Genome Browser database: extensions and updates 2013.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

A comprehensive genetic approach for improving prediction of skin cancer risk in humans

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

Limitations of the human reference genome for personalized genomics

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

Computational techniques for human genome resequencing using mated gapped reads

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

Impact of BRCA1 BRCT Domain Missense Substitutions on Phosphopeptide Recognition

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

Mutations and polymorphic BRCA variants transmission in breast cancer familial members.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

African genetic diversity: implications for human demographic history, modern human origins, and complex disease mapping

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

The effects of BRCA1 missense variants V1804D and M1628T on transcriptional activity.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

Polymorphisms in BRCA1 and BRCA2 and risk of epithelial ovarian cancer

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

The importance of race and ethnic background in biomedical research and clinical practice

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

Ethnic differences in cancer risk resulting from genetic variation

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984285

Chi-squared and Fisher-Irwin tests of two-by-two tables with small sample recommendations

27 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24728327

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mutation frequency in human lymphocytes increases with age

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24728327

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Is p53 polymorphism maintained by natural selection?

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24728327

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0094554

1 reference

6 August 2017

0 references

1 reference

6 August 2017

1 reference