Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations.

Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations.

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http://www.wikidata.org/entity/Q47847793
Hereditary breast cancer: ever more pieces to the polygenic puzzle.The DNA2 nuclease/helicase is an estrogen-dependent gene mutated in breast and ovarian cancersExome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapyAdenocarcinoma of the Right Colon in a Patient with Bloom SyndromeMutation analysis of the ERCC4/FANCQ gene in hereditary breast cancer.Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition.The impact of next generation sequencing on the analysis of breast cancer susceptibility: a role for extremely rare genetic variation?High prevalence of GPRC5A germline mutations in BRCA1-mutant breast cancer patients.Assessment of an APOBEC3B truncating mutation, c.783delG, in patients with breast cancer.First Two Cases of Bloom Syndrome in Russia: Lack of Skin Manifestations in a BLM c.1642C>T (p.Q548X) Homozygote as a Likely Cause of UnderdiagnosisDevelopment of breast tumors in CHEK2, NBN/NBS1 and BLM mutation carriers does not commonly involve somatic inactivation of the wild-type allele.Prevalence of PALB2 mutation c.509_510delGA in unselected breast cancer patients from Central and Eastern Europe.Double heterozygotes among breast cancer patients analyzed for BRCA1, CHEK2, ATM, NBN/NBS1, and BLM germ-line mutations.Prevalence of the BLM nonsense mutation, p.Q548X, in ovarian cancer patients from Central and Eastern Europe.Revisiting breast cancer patients who previously tested negative for BRCA mutations using a 12-gene panel.Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland.Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity
P2860

Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations.

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http://www.wikidata.org/entity/Q47847793
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2012 nî lūn-bûn
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2012年の論文
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2012年学术文章
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2012年学术文章
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2012年学术文章
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name
Nonsense mutation p.Q548X in B ...... cancer in Slavic populations.
@en
Nonsense mutation p.Q548X in B ...... cancer in Slavic populations.
@nl
type
label
Nonsense mutation p.Q548X in B ...... cancer in Slavic populations.
@en
Nonsense mutation p.Q548X in B ...... cancer in Slavic populations.
@nl
prefLabel
Nonsense mutation p.Q548X in B ...... cancer in Slavic populations.
@en
Nonsense mutation p.Q548X in B ...... cancer in Slavic populations.
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P698
P356
P1433
P1476
Nonsense mutation p.Q548X in B ...... cancer in Slavic populations.
@en
P2093
P2860
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P698