The Community Guide

- gsearch

Search Results

Narrow Results:

2024 2
2021 1
2018 1
2016 2
2012 1

Journal Article 7

1 - 7 of 7 Results

Refine Results

Refine Results:

CAG Repeat Variants in the POLG1 Gene Encoding mtDNA Polymerase-Gamma and Risk of Breast Cancer in African-American Women

CITE Title : CAG Repeat Variants in the POLG1 Gene Encoding mtDNA Polymerase-Gamma and Risk of Breast Cancer in African-American Women Personal Author(s) : Azrak, Sami;Ayyasamy, Vanniarajan;Zirpoli, Gary;Ambrosone, Christine;Bandera, Elisa V.;Bovbjerg, Dana H.;Jandorf, Lina;Ciupak, Gregory;Davis, Warren;Pawlish, Karen S.;Liang, Ping;Singh, Keshav; Published Date : Jan 20 2012 Source : PLoS One. 2012; 7(1). URL : https://stacks.cdc.gov/view/cdc/22767 Azrak, Sami et al. (2012). CAG Repeat Variants in the POLG1 Gene Encoding mtDNA Polymerase-Gamma and Risk of Breast Cancer in African-American Women. 7(1). Azrak, Sami et al. "CAG Repeat Variants in the POLG1 Gene Encoding mtDNA Polymerase-Gamma and Risk of Breast Cancer in African-American Women" 7, no. 1 (2012) Azrak, Sami et al. "CAG Repeat Variants in the POLG1 Gene Encoding mtDNA Polymerase-Gamma and Risk of Breast Cancer in African-American Women" vol. 7, no. 1, 2012 Export RIS Citation Information.

:

Azrak, Sami ;

Ayyasamy, Vanniarajan

Jan 20 2012 | PLoS One. 2012; 7(1).

:

The DNA polymerase-gamma (POLG) gene, which encodes the catalytic subunit of enzyme responsible for directing mitochondrial DNA replication in humans,...
Alcohol Consumption and the Risk of Colorectal Cancer for Mismatch Repair Gene Mutation Carriers

CITE Title : Alcohol Consumption and the Risk of Colorectal Cancer for Mismatch Repair Gene Mutation Carriers Personal Author(s) : Dashti, S. Ghazaleh;Buchanan, Daniel D.;Jayasekara, Harindra;Ouakrim, Driss Ait;Clendenning, Mark;Rosty, Christophe;Winship, Ingrid M.;Macrae, Finlay A.;Giles, Graham G.;Parry, Susan;Casey, Graham;Haile, Robert W.;Gallinger, Steven;Le Marchand, Loïc;Thibodeau, Stephen N.;Lindor, Noralane M.;Newcomb, Polly A.;Potter, John D.;Baron, John A.;Hopper, John L.;Jenkins, Mark A.;Win, Aung Ko; Published Date : Nov 03 2016 Source : Cancer Epidemiol Biomarkers Prev. 26(3):366-375. URL : https://stacks.cdc.gov/view/cdc/44524 Dashti, S. Ghazaleh et al. (2016). Alcohol Consumption and the Risk of Colorectal Cancer for Mismatch Repair Gene Mutation Carriers. 26(3). Dashti, S. Ghazaleh et al. "Alcohol Consumption and the Risk of Colorectal Cancer for Mismatch Repair Gene Mutation Carriers" 26, no. 3 (2016) Dashti, S. Ghazaleh et al. "Alcohol Consumption and the Risk of Colorectal Cancer for Mismatch Repair Gene Mutation Carriers" vol. 26, no. 3, 2016 Export RIS Citation Information.

:

Dashti, S. Ghazaleh ;

Buchanan, Daniel D.

Nov 03 2016 | Cancer Epidemiol Biomarkers Prev. 26(3):366-375.

:

BackgroundPeople with germline mutation in one of the DNA mismatch repair (MMR) genes have increased colorectal cancer risk. For these high-risk peopl...
Neuropathologically directed profiling of PRNP somatic and germline variants in sporadic human prion disease

CITE Title : Neuropathologically directed profiling of PRNP somatic and germline variants in sporadic human prion disease Personal Author(s) : McDonough, Gannon A.;Cheng, Yuchen;Morillo, Katherine S.;Doan, Ryan N.;Zhou, Zinan;Kenny, Connor J.;Foutz, Aaron;Kim, Chae;Cohen, Mark L.;Appleby, Brian S.;Walsh, Christopher A.;Safar, Jiri G.;Huang, August Yue;Miller, Michael B.; Published Date : 7 24 2024 Source : Acta Neuropathol. 148(1):10 URL : https://stacks.cdc.gov/view/cdc/160179 McDonough, Gannon A. et al. (2024). Neuropathologically directed profiling of PRNP somatic and germline variants in sporadic human prion disease. 148(1). McDonough, Gannon A. et al. "Neuropathologically directed profiling of PRNP somatic and germline variants in sporadic human prion disease" 148, no. 1 (2024) McDonough, Gannon A. et al. "Neuropathologically directed profiling of PRNP somatic and germline variants in sporadic human prion disease" vol. 148, no. 1, 2024 Export RIS Citation Information.

:

McDonough, Gannon A.

;

Cheng, Yuchen

7 24 2024 | Acta Neuropathol. 148(1):10

:

Creutzfeldt-Jakob Disease (CJD), the most common human prion disease, is associated with pathologic misfolding of the prion protein (PrP), encoded by ...

Public Access Available on:

July 24, 2025
Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH

CITE Title : Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH Personal Author(s) : Win, Aung Ko;Reece, Jeanette C.;Dowty, James G.;Buchanan, Daniel D.;Clendenning, Mark;Rosty, Christophe;Southey, Melissa C.;Young, Joanne P.;Cleary, Sean P.;Kim, Hyeja;Cotterchio, Michelle;Macrae, Finlay A.;Tucker, Katherine M.;Baron, John A.;Burnett, Terrilea;Le Marchand, Loïc;Casey, Graham;Haile, Robert W.;Newcomb, Polly A.;Thibodeau, Stephen N.;Hopper, John L.;Gallinger, Steven;Winship, Ingrid M.;Lindor, Noralane M.;Jenkins, Mark A.; Published Date : 10 1 2016;10-1-; Source : Int J Cancer. 139(7):1557-1563 URL : https://stacks.cdc.gov/view/cdc/42935 Win, Aung Ko et al. (2016). Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH. 139(7). Win, Aung Ko et al. "Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH" 139, no. 7 (2016) Win, Aung Ko et al. "Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH" vol. 139, no. 7, 2016 Export RIS Citation Information.

:

Win, Aung Ko ;

Reece, Jeanette C.

10 1 2016 | Int J Cancer. 139(7):1557-1563

:

Germline mutations in the DNA base excision repair gene MUTYH are known to increase a carrier's risk of colorectal cancer. However, the risks of other...
Germline but not Somatic De Novo Mutations Are Common in Human Congenital Diaphragmatic Hernia

CITE Title : Germline but not Somatic De Novo Mutations Are Common in Human Congenital Diaphragmatic Hernia Personal Author(s) : Matsunami, Nori;Shanmugam, Hari;Baird, Lisa;Stevens, Jeff;Byrne, Janice L.;Barnhart, Douglas C.;Rau, Carrie;Feldkamp, Marcia L.;Yoder, Bradley A.;Leppert, Mark F.;Yost, H. Joseph;Brunelli, Luca; Published Date : 4 17 2018;4-17-; Source : Birth Defects Res. 110(7):610-617 URL : https://stacks.cdc.gov/view/cdc/84094 Matsunami, Nori et al. (2018). Germline but not Somatic De Novo Mutations Are Common in Human Congenital Diaphragmatic Hernia. 110(7). Matsunami, Nori et al. "Germline but not Somatic De Novo Mutations Are Common in Human Congenital Diaphragmatic Hernia" 110, no. 7 (2018) Matsunami, Nori et al. "Germline but not Somatic De Novo Mutations Are Common in Human Congenital Diaphragmatic Hernia" vol. 110, no. 7, 2018 Export RIS Citation Information.

:

Matsunami, Nori ;

Shanmugam, Hari

4 17 2018 | Birth Defects Res. 110(7):610-617

:

BackgroundCongenital diaphragmatic hernia (CDH) is a developmental defect of the diaphragm that causes high newborn morbidity and mortality. CDH is co...
Germline and somatic fumarate hydratase testing in atypical uterine leiomyomata

CITE Title : Germline and somatic fumarate hydratase testing in atypical uterine leiomyomata Personal Author(s) : Kipnis, Lindsay M.;Breen, Katelyn M.;Koeller, Diane R.;Levine, Alison Schwartz;Yang, Zelei;Jun, Hyeji;Tayob, Nabihah;Stokes, Samantha M.;Hayes, Connor P.;Ghazani, Arezou A.;Hill, Sarah J.;Rana, Huma Q.; Published Date : 5 02 2024;5-02-; Source : Cancer Prev Res (Phila). 17(5):201-208 URL : https://stacks.cdc.gov/view/cdc/164627 Kipnis, Lindsay M. et al. (2024). Germline and somatic fumarate hydratase testing in atypical uterine leiomyomata. 17(5). Kipnis, Lindsay M. et al. "Germline and somatic fumarate hydratase testing in atypical uterine leiomyomata" 17, no. 5 (2024) Kipnis, Lindsay M. et al. "Germline and somatic fumarate hydratase testing in atypical uterine leiomyomata" vol. 17, no. 5, 2024 Export RIS Citation Information.

:

Kipnis, Lindsay M. ;

Breen, Katelyn M.

5 02 2024 | Cancer Prev Res (Phila). 17(5):201-208

:

Women with germline pathogenic variants (PV) in the fumarate hydratase (FH) gene develop cutaneous and uterine leiomyomata and have an increased risk ...
An intronic variant in the CELF4 gene is associated with risk for colorectal cancer

CITE Title : An intronic variant in the CELF4 gene is associated with risk for colorectal cancer Personal Author(s) : Teerlink, Craig C.;Stevens, Jeff;Hernandez, Rolando;Facelli, Julio C.;Cannon-Albright, Lisa A.; Published Date : 6 2021;6-2021; Source : Cancer Epidemiol. 72:101941 URL : https://stacks.cdc.gov/view/cdc/117905 Teerlink, Craig C. et al. (2021). An intronic variant in the CELF4 gene is associated with risk for colorectal cancer. 72 Teerlink, Craig C. et al. "An intronic variant in the CELF4 gene is associated with risk for colorectal cancer" 72 (2021) Teerlink, Craig C. et al. "An intronic variant in the CELF4 gene is associated with risk for colorectal cancer" vol. 72, 2021 Export RIS Citation Information.

:

Teerlink, Craig C. ;

Stevens, Jeff

6 2021 | Cancer Epidemiol. 72:101941

:

Background:Germline predisposition variants associated with colorectal cancer (CRC) have been identified but all are not yet identified. We sought to ...