Ten Polymorphisms of Estrogen-Metabolizing Genes and a Family History of Colon Cancer—An Association Study of Multiple Gene-Gene Interactions

2005 ◽  
Vol 12 (7) ◽  
pp. e51-e54 ◽  
Author(s):  
Ambros Huber ◽  
Eva-Katrin Bentz ◽  
Christian Schneeberger ◽  
Johannes C. Huber ◽  
Lukas Hefler ◽  
...  
2018 ◽  
Vol 21 (4) ◽  
pp. E8
Author(s):  
Ernestine Clements ◽  
Lena Gamble ◽  
Nathan Way ◽  
Lacy Smith ◽  
John B. Waits

2019 ◽  
Vol 188 (8) ◽  
pp. 1563-1568
Author(s):  
Danielle Rasooly ◽  
John P A Ioannidis ◽  
Muin J Khoury ◽  
Chirag J Patel

Abstract Family history is a strong risk factor for many common chronic diseases and summarizes shared environmental and genetic risk, but how this increased risk is mediated is unknown. We developed a “family history–wide association study” (FamWAS) to systematically and comprehensively test clinical and environmental quantitative traits (CEQTs) for their association with family history of disease. We implemented our method on 457 CEQTs for association with family history of diabetes, asthma, and coronary heart disease (CHD) in 42,940 adults spanning 8 waves of the 1999–2014 US National Health and Nutrition Examination Survey. We conducted pooled analyses of the 8 survey waves and analyzed trait associations using survey-weighted logistic regression. We identified 172 (37.6% of total), 32 (7.0%), and 78 (17.1%) CEQTs associated with family history of diabetes, asthma, and CHD, respectively, in subcohorts of individuals without the respective disease. Twenty associated CEQTs were shared across family history of diabetes, asthma, and CHD, far more than expected by chance. FamWAS can examine traits not previously studied in association with family history and uncover trait overlap, highlighting a putative shared mechanism by which family history influences disease risk.


2013 ◽  
Vol 108 ◽  
pp. S159
Author(s):  
Srikala Meda ◽  
Krishna Ayyagari ◽  
Sindhu Kaitha ◽  
Vijay Babu Adimoolam

2012 ◽  
Vol 95 (2) ◽  
pp. 413-419 ◽  
Author(s):  
Eunyoung Cho ◽  
Jung Eun Lee ◽  
Eric B Rimm ◽  
Charles S Fuchs ◽  
Edward L Giovannucci

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. e13540-e13540
Author(s):  
Sushma Tatineni ◽  
Kristen Purrington ◽  
Hadeel Assad ◽  
Nadine Abdallah ◽  
Meri Tarockoff ◽  
...  

e13540 Background: The identification of pathogenic variants and variants of unknown significance (VUS) in multi-gene cancer predisposition testing raises new questions regarding cancer risk and management. We evaluated the personal and family cancer patterns and variation by race and ethnicity, among individuals positive for pathogenic variants in non-BRCA1/ 2 cancer predisposing genes. Methods: The Karmanos Cancer Institute (KCI) Cancer Genetics database was queried from May 13, 2013 through December 31, 2018. There were 3,544 unrelated individuals evaluated for hereditary cancer predisposition of whom 1,868 had 18-gene panel testing at 6 sites across Michigan. Data was collected on personal and family cancer history including ages at diagnosis utilizing a 3-generation pedigree, self-identified race and ethnicity and results of genetic testing. We describe the prevalence of pathogenic variants by proband cancer diagnosis, family history, race, and ethnicity. Results: The race/ethnic distribution of the tested cohort included 67.5% non-Hispanic White (NHW), 24.4% African American (AA), 2.1% Arab, 1.8% Ashkenazi Jewish (AJ), 1.0% Hispanic, and 3.4% other. The distribution of cancer diagnoses included 40.6% breast, 5.5% ovarian, 4.1% colon, 3.5% endometrial, 2.0% pancreas and 39.7% unaffected. Pathogenic variants were seen in 151 (8.1%) individuals and VUS in 309 (16.5%). The five most common pathogenic variants were CHEK2 (40), MUTYH (22), ATM (20), and PALB2 (18). The most common pathogenic variants by race and ethnicity were CHEK2 (NHW), RAD51C (AA), PALB2 (Arab), CHEK2, MSH6 (AJ), and none in Hispanics. Variants associated with the four most common cancer types were breast ( CHEK2 ), ovarian ( CHEK2, MUTYH, BRIP1), colon ( ATM), and endometrial ( MSH6, PALB2). Of 40 individuals with CHEK2 variants, 92.5% were NHW, and 34 (85%), 31 (78%), 10 (25%), 1 (2.5%) had family history of breast cancer, breast cancer before age 50, ovarian, and colon cancer, respectively. Of 20 with ATM variants, 95% were NHW, 13 had family history data and 10 (76.9%), 8 (61.5%), 2 (15.4%), 1 (7.7%) had family history of breast, breast cancer before age 50, ovarian, and colon cancer, respectively. Conclusions: Pathogenic variants seen using multigene panel testing differ by race, ethnicity and personal/family history of cancer. This data will inform genetic counseling strategies in regards to cancer risk and management. Data on additional genes updated through 2019 will be presented.


PEDIATRICS ◽  
1971 ◽  
Vol 48 (2) ◽  
pp. 307-312
Author(s):  
Milton H. Donaldson ◽  
Peyton Taylor ◽  
Robert Rawitscher ◽  
John B. Sewell

Two cases of colon carcinoma in children without a family history of polyposis or gastrointestinal malignancy are reported. Details of the post-surgical treatment with 5-fluorouracil are stated, along with a brief recounting of the literature which served as a basis for the therapeutic approach utilized in these two patients. The tumor-free intervals of 14 and 20 months are impressive in view of the advanced stages of the lesions and, thus, suggest 5-FU should be utilized in children with colon cancer as it is in such adults.


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