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Article

Missense mutations (p.H371Y, p.D438Y) in gene CHEK2 are associated with breast cancer risk in women of Balochistan origin.

Molecular biology reports - 1 Feb 2014

Baloch Abdul Hameed, Daud Shakeela, Raheem Nafeesa, Luqman Muhammad, Ahmad Adeel, Rehman Abdul, Shuja Jameela, Rasheed Saeeda, Ali Akhtar, Kakar Naseebullah, Naseeb Hafiz Khush, Mengal Mohammad Alam, Awan Muhammad Arif, Wasim Muhammad, Baloch Dost Mohammad, Ahmad Jamil

Abstract excerpt

CHEK2 encodes a serine/threonine-protein kinase which plays a critical role in DNA damage signaling pathways. CHEK2 directly phosphorylates and regulates the functions of p53 and BRCA1. Most women with breast and/or ovarian cancer are not carriers of mutant BRCA1 or BRCA2. Multiple studies have shown that a CHEK2*1100delC confers about a two-fold increased risk of breast cancer in unselected females and a tenfold...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24390236
DOI: 10.1007/s11033-013-2956-x

Genes

CHEK2
BRCA1
BRCA2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Missense mutations (p.H371Y, p.D438Y) in gene CHEK2 are associated with breast cancer risk in women of Balochistan origin.PMID 24390236Read ↗

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Novel Nonsense Variants c.58C>T (p.Q20X) and c.256G>T (p.E85X) in the CHEK2 Gene Identified in Breast Cancer Patients from Balochistan.Semantic proximity Read ↗

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