NDLI: BRCA1 mutations and colorectal cancer in Poland

Content Provider	Springer Nature Link
Author	Suchy, Janina Cybulski, Cezary Górski, Bohdan Huzarski, Tomasz Byrski, Tomasz Dębniak, Tadeusz Gronwald, Jacek Jakubowska, Anna Wokołorczyk, Dominika Kurzawski, Grzegorz Kładny, Józef Jawień, Arkadiusz Banaszkiewicz, Zbigniew Wiśniowski, Rafał Wandzel, Piotr Starzewski, Jacek Lorenc, Zbigniew Korobowicz, Elżbieta Krokowicz, Piotr Horbacka, Karolina Lubiński, Jan Narod, Steven A.
Copyright Year	2010
Abstract	Evidence to date that germline mutations in the tumor suppressor gene BRCA1 increase the incidence of colorectal cancer is mixed, and both positive and negative results have been reported. To establish whether or not inherited variation in BRCA1 influences the risk of colorectal cancer, we genotyped 2,398 unselected patients with colorectal cancer and 4,570 controls from Poland for three BRCA1 founder mutations (C61G, 4153delA and 5382insC). A BRCA1 mutation was present in 0.42% of unselected cases of colorectal cancer and in 0.48% of controls (OR = 0.8; P = 0.8). The mutation frequency was slightly higher (0.93%) in 321 cases who reported a family history of colon cancer in a first- or second-degree relative (OR = 1.9; P = 0.5). A BRCA1 mutation was also seen in excess (0.82%) in 851 cases who were diagnosed with colorectal cancer at age 60 or earlier (OR = 1.7; P = 0.3). The mean age at onset in carriers was 7 years younger than in non-carriers (57.0 years vs. 64.0) and the difference was significant (P = 0.05). This study suggests that BRCA1 mutations may be associated with early-onset of colorectal cancer.
Starting Page	541
Ending Page	544
Page Count	4
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	9
Issue Number	4
e-ISSN	15737292
Language	English
Publisher	Springer Netherlands
Publisher Date	2010-09-23
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	BRCA1 Colorectal cancer Genetic Hereditary Mutation Biomedicine general Epidemiology Human Genetics Cancer Research
Content Type	Text
Resource Type	Article
Subject	Genetics Cancer Research Genetics (clinical) Oncology

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1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
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