Title |
CHEK2 1100DELC germline mutation: a frequency study in hereditary breast and colon cancer Brazilian families
|
---|---|
Published in |
Arquivos de Gastroenterologia, January 2013
|
DOI | 10.1590/s0004-28032012000400008 |
Pubmed ID | |
Authors |
Jamile Abud, João Carlos Prolla, Patrícia Koehler-Santos, Patricia Ashton-Prolla |
Abstract |
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 with increased risk of contralateral breast cancer in women previously affected by the disease. About 5%-10% of all breast and colorectal cancers are associated with hereditary predisposition and its recognition is of great importance for genetic counseling and cancer risk management. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Spain | 1 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Brazil | 1 | 2% |
Unknown | 49 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Bachelor | 9 | 18% |
Researcher | 8 | 16% |
Student > Master | 7 | 14% |
Student > Ph. D. Student | 4 | 8% |
Professor > Associate Professor | 4 | 8% |
Other | 7 | 14% |
Unknown | 11 | 22% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 13 | 26% |
Biochemistry, Genetics and Molecular Biology | 10 | 20% |
Agricultural and Biological Sciences | 7 | 14% |
Computer Science | 2 | 4% |
Unspecified | 1 | 2% |
Other | 4 | 8% |
Unknown | 13 | 26% |