Coding variants in human double-strand break DNA repair genes (Q34158591)

31 July 2017

title

Coding variants in human double-strand break DNA repair genes (English)

1 reference

31 July 2017

Cindy C Ruttan

1

1 reference

31 July 2017

Barry W Glickman

series ordinal

2

1 reference

31 July 2017

language of work or name

English

0 references

publication date

1 November 2002

1 reference

31 July 2017

1 reference

31 July 2017

volume

509

1 reference

31 July 2017

issue

1-2

1 reference

31 July 2017

page(s)

175-200

1 reference

31 July 2017

cites work

Human DNA repair genes

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

7 January 2021

Human DNA repair genes

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Sensing and repairing DNA double-strand breaks

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

DNA double strand break repair in mammalian cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Genomic integrity and the repair of double-strand DNA breaks

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Double-strand breaks and translocations in cancer

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Variation in DNA repair is a factor in cancer susceptibility: a paradigm for the promises and perils of individual and population risk estimation?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Mismatch repair and the hereditary non-polyposis colorectal cancer syndrome (HNPCC)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Mismatch repair defects in cancer

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Xeroderma pigmentosum and related disorders: defects in DNA repair and transcription

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Xeroderma pigmentosum and the role of UV-induced DNA damage in skin cancer.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Characterization of single-nucleotide polymorphisms in coding regions of human genes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Mice with DNA repair gene (ERCC-1) deficiency have elevated levels of p53, liver nuclear abnormalities and die before weaning

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

A single nucleotide polymorphism of dopamine transporter gene is associated with Parkinson's disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: expansion of the disease phenotype caused by tau gene mutations.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

BRCA1 Mutations and Breast Cancer in the General Population

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Novel germline BRCA1 mutations detected in women in singapore who developed breast carcinoma before the age of 36 years

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Low incidence of BRCA1 mutations among Italian families with breast and ovarian cancer.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

A highly sensitive, fast, and economical technique for mutation analysis in hereditary breast and ovarian cancers

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Comparison between genotype and phenotype identifies a high-risk population carrying BRCA1 mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Identification of specific BRCA1 and BRCA2 variants by DHPLC

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Nonsense mutation at codon 63 of the BRCA1 gene in Japanese breast cancer patients.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Constant denaturant gel electrophoresis (CDGE) in BRCA1 mutation screening

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

BRCA1 mutation analysis in 83 Spanish breast and breast/ovarian cancer families

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

The contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer: no evidence for other ovarian cancer-susceptibility genes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Mutational analyses ofBRCA1 andBRCA2 in Ashkenazi and non-Ashkenazi Jewish women with familial breast and ovarian cancer

7 January 2021

2 references

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

7 January 2021

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

inferred from DOI database lookup

7 January 2021

based on heuristic

Prevalence of BRCA1 and BRCA2 mutations among clinic-based African American families with breast cancer

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

The prevalence of BRCA1 mutations in Chinese patients with early onset breast cancer and affected relatives

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Germline BRCA1 alterations in a population-based series of ovarian cancer cases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Germ line BRCA1 and BRCA2 gene mutations in Turkish breast cancer patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Common BRCA1 variants and susceptibility to breast and ovarian cancer in the general population

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Comparison of conformation-sensitive gel electrophoresis and single-strand conformation polymorphism analysis for detection of mutations in the BRCA1 gene using optimized conformation analysis protocols

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Ovarian cancer BRCA1 mutation detection: Protein truncation test (PTT) outperforms single strand conformation polymorphism analysis (SSCP)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Germline BRCA1 mutations in Iranian women with breast cancer.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Rapid detection of BRCA1 mutations by the protein truncation test

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

BRCA1 R841W: a strong candidate for a common mutation with moderate phenotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

An identical novel mutation in BRCA1 and a common haplotype in familial ovarian cancer in non-Ashkenazi Jews

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Mutation analysis of the BRCA1 gene in 76 Japanese ovarian cancer patients: four germline mutations, but no evidence of somatic mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

BRCA1 gene mutations in women with papillary serous carcinoma of the peritoneum

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Evidence of founder mutations in Finnish BRCA1 and BRCA2 families

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

BRCA2 germline mutations in male breast cancer cases and breast cancer families

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Frequency of BRCA1/BRCA2 mutations in a population-based sample of young breast carcinoma cases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

BRCA1 andBRCA2 genes: Role in hereditary breast and ovarian cancer in Italy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Screening for BRCA2 mutations in 81 Dutch breast-ovarian cancer families

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Survival in hereditary breast cancer associated with germline mutations of BRCA2.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Variants in DNA double-strand break repair genes and breast cancer susceptibility

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Novel DNA sequence variants in the hHR21 DNA repair gene in radiosensitive cancer patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Individual variation in protein-coding sequences of human genome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

High-throughput variation detection and genotyping using microarrays

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Identification of Rad51 alteration in patients with bilateral breast cancer

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Identification of single nucleotide polymorphisms in human DNA repair genes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Mutations in the RAD54 recombination gene in primary cancers

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Mutations of a novel human RAD54 homologue, RAD54B, in primary cancer

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Inheritance of the 194Trp and the 399Gln variant alleles of the DNA repair gene XRCC1 are associated with increased risk of early-onset colorectal carcinoma in Egypt

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Genetic polymorphism of XRCC1 and lung cancer risk among African-Americans and Caucasians.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

XRCC1 genetic polymorphism and breast cancer risk.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

XRCC1 polymorphisms and head and neck cancer

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Polymorphisms of the DNA repair gene XRCC1 and risk of gastric cancer in a Chinese population

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Polymorphisms of DNA repair gene XRCC1 in squamous cell carcinoma of the head and neck

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Genetic polymorphisms of DNA repair and xenobiotic-metabolizing enzymes: role in mutagen sensitivity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

The XRCC1 399 glutamine allele is a risk factor for adenocarcinoma of the lung

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Polymorphisms in the DNA repair genes XRCC1 and ERCC2 and biomarkers of DNA damage in human blood mononuclear cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Amino acid substitution variants of APE1 and XRCC1 genes associated with ionizing radiation sensitivity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

XRCC1, XRCC3, XPD gene polymorphisms, smoking and (32)P-DNA adducts in a sample of healthy subjects.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Polymorphisms of the DNA repair gene XRCC1 and the frequency of somatic mutations at the glycophorin A locus in newborns

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

A potential role for the XRCC2 R188H polymorphic site in DNA-damage repair and breast cancer

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

Lack of Ku80 alteration in multiple myeloma

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

BRCA1 mutations and breast cancer in the general population: analyses in women before age 35 years and in women before age 45 years with first-degree family history

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900218-X

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0027-5107(02)00218-X

1 reference

31 July 2017

1 reference