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Article

CHEK2 1100DELC germline mutation: a frequency study in hereditary breast and colon cancer Brazilian families.

Arquivos de gastroenterologia - 1 Dec 2012

Abud Jamile, Koehler-Santos Patricia, Ashton-Prolla Patricia, Prolla João Carlos

Abstract excerpt

CONTEXT: CHEK2 encodes a cell cycle checkpoint kinase that plays an important role in the DNA damage repair pathway, activated mainly by ATM (Ataxia Telangiectasia Mutated) in response to double-stranded DNA breaks. A germline mutation in CHEK2, 1100delC, has been described as a low penetrance allele in a significant number of families with breast and colorectal cancer in certain countries and is also associated...

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Source

Identifiers

PMID: 23329222
DOI: 10.1590/s0004-28032012000400008

Genes

CHEK2
ATM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

CHEK2 1100DELC germline mutation: a frequency study in hereditary breast and colon cancer Brazilian families.PMID 23329222Read ↗

Absence of the CHEK2 c.1100delC mutation in familial breast and ovarian cancer in Colombia: a case-control studySemantic proximity Read ↗

The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype.Semantic proximity Read ↗

CHEK2 c.1100delC allele is rarely identified in Greek breast cancer cases.Semantic proximity Read ↗

Frequency of CHEK2 mutations in a population based, case-control study of breast cancer in young women.Semantic proximity Read ↗

CHEK2 1100delC variant and breast cancer risk in Caucasians: a meta-analysis based on 25 studies with 29,154 cases and 37,064 controls.Semantic proximity Read ↗

Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations.Semantic proximity Read ↗

CHEK2 1100delC is a susceptibility allele for HNPCC-related colorectal cancer.Semantic proximity Read ↗

The breast cancer low-penetrance allele 1100delC in the CHEK2 gene is not present in Spanish familial breast cancer population.Semantic proximity Read ↗

CHEK2 Germ Line Mutations are Lacking among Familial and Sporadic Breast Cancer Patients in RwandaSemantic proximity Read ↗

CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies.Semantic proximity Read ↗

Colorectal cancer and the CHEK2 1100delC mutation.Semantic proximity Read ↗

Absence of CHEK2*1100delC mutation in families with hereditary breast cancer in North America.Semantic proximity Read ↗

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