Colonoscopy in patients with a primary family history of colon cancer

1990 ◽  
Vol 33 (3) ◽  
pp. 259 ◽  
Author(s):  
John C. McConnell
1990 ◽  
Vol 33 (2) ◽  
pp. 105-107 ◽  
Author(s):  
John C. McConnell ◽  
Joel S. Nizin ◽  
Michael S. Slade

2018 ◽  
Vol 21 (4) ◽  
pp. E8
Author(s):  
Ernestine Clements ◽  
Lena Gamble ◽  
Nathan Way ◽  
Lacy Smith ◽  
John B. Waits

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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