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1. Missense Polymorphisms in the Adenomatous Polyposis Coli Gene and Colorectal Cancer Risk

Author

Cleary, Sean, Kim, Hyeja, Croitoru, Marina, Redston, Mark, Knight, Julia, Gallinger, Steven, and Gryfe, Robert

Abstract

Abstract: Purpose: Whereas truncating germline mutations of the adenomatous polyposis coli (APC) gene give rise to familial adenomatous polyposis, missense polymorphisms of APC may confer a weaker risk for colorectal cancer. Methods: We sequenced the entire open reading frame of the APC gene and tested for two common MYH mutations in a population-based series of patients with colorectal cancer and 5 to 99 adenomas. Missense adenomatous polyposis coli alterations identified in this colorectal cancer multiple-polyp population were analyzed in a population-based series of patients with colorectal cancer and healthy control subjects. Results: Germline APC or mutY human homologue (MYH) alterations were identified in 16 of 39 colorectal cancer-multiple polyp patients. Four missense APC gene alterations (S130G, E1317Q, D1822V, G2502S) were observed in 13 individuals and 3 additional patients carried presumed pathogenic (APC Y94X, biallelic MYH Y165C and heterozygous MYH G382D) mutations. When independently assessed in 971 patients with colorectal cancer and 954 healthy control subjects, none of the identified missense APC alterations conferred a significantly increased risk for colorectal cancer, odds ratio (95 percent confidence intervals): S130G = 3.1 (0.29–32.25), E1317Q = 1.08 (0.59–2.74), G2502S = 1 (0.65–1.63), D1822V (heterozygous) = 0.79 (0.64–0.98), D1822V (homozygous) = 0.82 (0.63–1.27). Conclusions: Germline missense APC alterations observed in 33 percent of patients with multiple colorectal neoplasms seemed to play a limited role in colorectal cancer risk when independently assessed by a population-based, case-control analysis.

Published
2024
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3. Risk of colorectal cancer for people with a mutation in both a MUTYH and a DNA mismatch repair gene

Author

Win, Aung Ko, Reece, Jeanette C., Buchanan, Daniel D., Clendenning, Mark, Young, Joanne P., Cleary, Sean P., Kim, Hyeja, Cotterchio, Michelle, Dowty, James G., MacInnis, Robert J., Tucker, Katherine M., Winship, Ingrid M., Macrae, Finlay A., Burnett, Terrilea, Le Marchand, Loïc, Casey, Graham, Haile, Robert W., Newcomb, Polly A., Thibodeau, Stephen N., Lindor, Noralane M., Hopper, John L., Gallinger, Steven, and Jenkins, Mark A.

Published
2015
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8. Tumor microsatellite instability and clinical outcome in young patients with colorectal cancer

Author

Gryfe, Robert, Kim, Hyeja, Hsieh, Eugene T.K., Aronson, Melyssa D., Holowaty, Eric J., Bull, Shelley B., Redston, Mark, and Gallinger, Steven

Subjects
Colorectal cancer -- Prognosis, Gene mutations -- Health aspects
Abstract

Tumor microsatellite instability appears to improve the prognosis of patients with colorectal cancer. Microsatellite instability occurs in genes when certain DNA sequences become unstable and likely to mutate. Research has shown that this often occurs because patients have a defect in the gene that repairs DNA mismatches that occur during DNA replication. In a study of 607 patients with colorectal cancer, 17% had tumor microsatellite instability. These patients had longer survival rates and a decreased risk of the tumor spreading to other parts of the body.

Published
2000

9. Immunolocalization of the ubiquitin-protein ligase Nedd4 in tissues expressing the epithelial Na+ channel (ENaC)

Author

Staub, Olivier, Yeger, Herman, Plant, Pamela J., Kim, Hyeja, Ernst, Stephen A., and Rotin, Daniela

Subjects
Ligases -- Analysis, Immunohistochemistry -- Research, Proteins -- Physiological aspects, Biological sciences
Abstract

The presence of the Nedd4 ubiquitin-protein ligase in cellular regions that express epithelial Na+ channels were analyzed via immunohistochemical techqniues in rat kidney, colon and lung tissues. Immunohistochemical analysis of selected rat tissues indicated the presence of Nedd4 in the distal epithelia of the kidney nephron and in the proximal renal tubules. The ubiquitin-protein ligase was also detected in the epithelial cells that line the crypts of the rat colon.

Published
1997

10. MADR2 maps to 18q21 and encodes a TGF beta-regulated MAD-related protein that is functionally mutated in colorectal carcinoma

Author

Eppert, Kolja, Scherer, Stephen W., Ozcelik, Hilmi, Pirone, Rosa, Hoodless, Pamela, Kim, Hyeja, Tsui, Lap-Chee, Bapat, Bharati, Gallinger, Steven, Andrulis, Irene L., Thomsen, Gerald H., Wrana, Jeffrey L., and Attisano, Liliana

Subjects
Proteins -- Research, Colorectal cancer -- Research, Cell receptors -- Research, Biological sciences
Abstract

The MAD-related (MADR) family of proteins play a significant role in the signaling pathways of serine/threonine kinase receptors for the transforming growth factor (TGF) beta superfamily. TGF beta, not bone morphogenetic proteins, was found to specifically regulate MADR2. The MADR2 gene resides on chromosome 18q21 near the MADR protein DPC4. Four missence mutations in colorectal carcinomas were identified via a mutational analysis of MADR2 in sporadic tumors. Two showed a loss of heterozygosity. Biochemical and functional analyses of three mutations showed the mutations to be inactivating. Results suggest that MADR2 is a tumor suppressor and that the mutations acquired in colorectal carcinomas may function to disrupt TGF beta signaling.

Published
1996

11. Expression of LAR-PTP2 in rat lung is confined to proliferating epithelia lining the airways

Author

Kim, Hyeja, Yeger, Herman, Han, Robin, Wallace, Megan, Goldstein, Barry, and Rotin, Daniela

Subjects
Lungs -- Growth, Epithelial cells -- Growth, Biological sciences
Abstract

The tyrosine phosphatase LAR-PTP2 is highly expressed in developing lung epithelial cells where it seems to participate in cell proliferation and differentiation processes. This protein is a shorter form of the tyrosine phosphatase typically found in the central and peripheral nervous system. The shorter isoform was identified using in situ hybridization and its presence was established using parallel cell nuclear antigen staining. LAR-PTP2 disappears once the cells have differentiated into bronchial and air sac linings.

Published
1996

12. Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH: Extracolonic cancer risks for people with biallelic and monoallelicMUTYHmutations

Author

Casey, Graham, Newcomb, Polly A., Kim, Hyeja, Cotterchio, Michelle, Macrae, Finlay A., Hopper, John L., Le Marchand, Loïc, Reece, Jeanette C., Clendenning, Mark, Cleary, Sean P., Rosty, Christophe, Jenkins, Mark A., Dowty, James G., Buchanan, Daniel D., Young, Joanne P., Winship, Ingrid M., Haile, Robert W., Win, Aung Ko, Baron, John A., Southey, Melissa C., Gallinger, Steven, Thibodeau, Stephen N., Tucker, Katherine M., Lindor, Noralane M., and Burnett, Terrilea

Abstract

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 (extracolonic) cancers for MUTYH mutation carriers are not well defined. We identified 266 probands (91% Caucasians) with a MUTYH mutation (41 biallelic and 225 monoallelic) from the Colon Cancer Family Registry. Mutation status, sex, age, and histories of cancer from their 1,903 first- and 3,255 second-degree relatives, were analysed using modified segregation analysis conditioned on the ascertainment criteria. Compared with incidences for the general population, hazard ratios (HRs) (95% confidence intervals [CIs]) for biallelic MUTYH mutation carriers were: urinary bladder cancer, 19(3.7–97); and ovarian cancer, 17(2.4–115). The HRs (95%CI) for monoallelic MUTYH mutation carriers were: gastric cancer, 9.3(6.7–13); hepatobiliary cancer, 4.5(2.7–7.5); endometrial cancer, 2.1(1.1–3.9); and breast cancer, 1.4(1.0–2.0). There was no evidence for an increased risk of cancers at the other sites examined (brain, pancreas, kidney or prostate). Based on the USA population incidences, the estimated cumulative risks (95%CI) to age 70 years for biallelic mutation carriers were: bladder cancer, 25%(5%–77%) for males and 8%(2%–33%) for females; and ovarian cancer, 14%(2%–65%). The cumulative risks (95%CI) for monoallelic mutation carriers were: gastric cancer, 5%(4%–7%) for males and 2.3%(1.7%–3.3%) for females; hepatobiliary cancer, 3%(2%–5%) for males and 1.4%(0.8%–2.3%) for females; endometrial cancer, 3%(2%–6%); and breast cancer 11%(8%–16%). These unbiased estimates of both relative and absolute risks of extracolonic cancers for people, mostly Caucasians, with MUTYH mutations will be important for their clinical management.

Published
2016
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13. Risk of Colorectal Cancer for Carriers of Mutations in MUTYH, With and Without a Family History of Cancer

Author

Boussioutas, Alex, Cleary, Sean P., Jenkins, Mark A., Haile, Robert W., Buchanan, Daniel D., Cotterchio, Michelle, Gallinger, Steven, Parry, Susan, Clendenning, Mark, Burnett, Terrilea, Hopper, John L., Baron, John A., Dowty, James G., Giles, Graham G., Tucker, Katherine M., Rosty, Christophe, Le Marchand, Loïc, Win, Aung Ko, Macinnis, Robert J., Goldblatt, Jack, Lindor, Noralane M., Young, Joanne P., Kim, Hyeja, Macrae, Finlay A., Winship, Ingrid M., and Newcomb, Polly A.

Subjects
digestive system diseases
Abstract

We studied 2332 individuals with monoallelic mutations in MUTYH among 9504 relatives of 264 colorectal cancer (CRC) cases with a MUTYH mutation. We estimated CRC risks, through 70 y of age, of 7.2% for male carriers of monoallelic mutations (95% confidence interval [CI], 4.6%–11.3%) and 5.6% for female carriers of monoallelic mutations (95% CI, 3.6%–8.8%), irrespective of family history. For monoallelic MUTYH mutation carriers with a first-degree relative with CRC, diagnosed by 50 y of age who does not have the MUTYH mutation, risks of CRC were 12.5% for men and (95% CI, 8.6%–17.7%) and 10% for women (95% CI, 6.7%–14.4%). Risks of CRC for carriers of monoallelic mutations in MUTYH with a first-degree relative with CRC are sufficiently high to warrant more intensive screening than for the general population.

Published
2014
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14. Risk of extracolonic cancers for people with biallelic and monoallelic mutations inMUTYH

Author

Win, Aung Ko, primary, Reece, Jeanette C., additional, Dowty, James G., additional, Buchanan, Daniel D., additional, Clendenning, Mark, additional, Rosty, Christophe, additional, Southey, Melissa C., additional, Young, Joanne P., additional, Cleary, Sean P., additional, Kim, Hyeja, additional, Cotterchio, Michelle, additional, Macrae, Finlay A., additional, Tucker, Katherine M., additional, Baron, John A., additional, Burnett, Terrilea, additional, Le Marchand, Loïc, additional, Casey, Graham, additional, Haile, Robert W., additional, Newcomb, Polly A., additional, Thibodeau, Stephen N., additional, Hopper, John L., additional, Gallinger, Steven, additional, Winship, Ingrid M., additional, Lindor, Noralane M., additional, and Jenkins, Mark A., additional

Published
2016
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15. Identification of Driver Genes in Hepatocellular Carcinoma by Exome Sequencing

Author

Zhao, Xiaobei, Savich, Gleb L., Jeck, William R., Li, Jinyu, Powers, Scott, Chen, Kui, Wu, Michael C., Getz, Gad, Lawrence, Michael S., Selitsky, Sara R., Tan, Ting-Xu, Fischer, Sandra, Cleary, Sean P., Guindi, Maha, Ghanekar, Anand, Chiang, Derek Y., Parker, Joel S., and Kim, Hyeja

Abstract

Genetic alterations in specific driver genes lead to disruption of cellular pathways and are critical events in the instigation and progression of hepatocellular carcinoma. As a prerequisite for individualized cancer treatment, we sought to characterize the landscape of recurrent somatic mutations in hepatocellular carcinoma. We performed whole exome sequencing on 87 hepatocellular carcinomas and matched normal adjacent tissues to anaverage coverage of 59x. The overall mutation rate was roughly 2 mutations per Mb, with a median of 45 non-synonymous mutations that altered the amino acid sequence (range 2 to 381). We found recurrent mutations in several genes with high transcript levels: TP53 (18%), CTNNB1 (10%), KEAP1 (8%), C16orf62 (8%), MLL4(7%) and RAC2 (5%). Significantly affected gene families include the nucleotide-binding domain and leucine rich repeat containing family, calcium channel subunits, and histone methyltransferases. In particular, the MLL family of methyltransferases for histone H3 lysine 4 were mutated in 20% of tumors.

Published
2013
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16. Risk of Colorectal Cancer for Carriers of Mutations in MUTYH, With and Without a Family History of Cancer

Author

Win, Aung Ko, primary, Dowty, James G., additional, Cleary, Sean P., additional, Kim, Hyeja, additional, Buchanan, Daniel D., additional, Young, Joanne P., additional, Clendenning, Mark, additional, Rosty, Christophe, additional, MacInnis, Robert J., additional, Giles, Graham G., additional, Boussioutas, Alex, additional, Macrae, Finlay A., additional, Parry, Susan, additional, Goldblatt, Jack, additional, Baron, John A., additional, Burnett, Terrilea, additional, Le Marchand, Loïc, additional, Newcomb, Polly A., additional, Haile, Robert W., additional, Hopper, John L., additional, Cotterchio, Michelle, additional, Gallinger, Steven, additional, Lindor, Noralane M., additional, Tucker, Katherine M., additional, Winship, Ingrid M., additional, and Jenkins, Mark A., additional

Published
2014
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17. Abstract 4598: Identification of driver genes in hepatocellular carcinoma by exome sequencing.

Author

Cleary, Sean P., primary, Jeck, William R., additional, Zhao, Xiaobei, additional, Selitsky, Sara R., additional, Savich, Gleb L., additional, Tan, Ting-Xu, additional, Wu, Michael C., additional, Getz, Gad, additional, Lawrence, Michael S., additional, Parker, Joel S., additional, Li, Jinyu, additional, Powers, Scott, additional, Kim, Hyeja, additional, Fischer, Sandra E., additional, Guindi, Maha, additional, Ghanekar, Anand, additional, and Chiang, Derek Y., additional

Published
2013
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19. Germline MutY Human Homologue Mutations and Colorectal Cancer: A Multisite Case-Control Study

Author

Cleary, Sean P., primary, Cotterchio, Michelle, additional, Jenkins, Mark A., additional, Kim, Hyeja, additional, Bristow, Robert, additional, Green, Roger, additional, Haile, Robert, additional, Hopper, John L., additional, LeMarchand, Loic, additional, Lindor, Noralane, additional, Parfrey, Patrick, additional, Potter, John, additional, Younghusband, Ban, additional, and Gallinger, Steven, additional

Published
2009
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22. Immunohistochemistry for hMLH1 and hMSH2: A Practical Test for DNA Mismatch Repair-Deficient Tumors

Author

Marcus, Victoria A., primary, Madlensky, Lisa, additional, Gryfe, Robert, additional, Kim, Hyeja, additional, So, Kelvin, additional, Millar, Anna, additional, Temple, Larissa K.F., additional, Hsieh, Eugene, additional, Hiruki, Tad, additional, Narod, Steven, additional, Bapat, Bharati V., additional, Gallinger, Steven, additional, and Redston, Mark, additional

Published
1999
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23. MADR2 Maps to 18q21 and Encodes a TGFβ–Regulated MAD–Related Protein That Is Functionally Mutated in Colorectal Carcinoma

Author

Eppert, Kolja, primary, Scherer, Stephen W, additional, Ozcelik, Hilmi, additional, Pirone, Rosa, additional, Hoodless, Pamela, additional, Kim, Hyeja, additional, Tsui, Lap-Chee, additional, Bapat, Bharati, additional, Gallinger, Steven, additional, Andrulis, Irene L, additional, Thomsen, Gerald H, additional, Wrana, Jeffrey L, additional, and Attisano, Liliana, additional

Published
1996
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24. Chromosome 7q31 allelic imbalance and somatic mutations of <f>RAY1/ST7</f> gene in colorectal cancer

Author

Haddad, Riad, Vincent, John B., Gryfe, Robert, Kim, Hyeja, Wen, Joseph, Redston, Mark, Scherer, Stephen W., and Gallinger, Steven

Subjects
*TUMOR suppressor genes, *ANTIBODY diversity, *CARCINOGENESIS, *CHROMOSOME abnormalities, *ADENOCARCINOMA, *CHROMOSOMES, *COLON tumors, *COMPARATIVE studies, *RESEARCH methodology, *MEDICAL cooperation, *GENETIC mutation, *PROTEINS, *RESEARCH, *EVALUATION research, RECTUM tumors
Abstract

ST7 is a putative tumor suppressor gene on chromosome 7q31. However, the role of ST7 as a tumor suppressor is uncertain as somatic mutations have been difficult to demonstrate.In order to investigate the genetic role of RAY1/ST7 in tumorigenesis, we have screened 135 colorectal cancers for loss of heterozygosity (LOH) at chromosome 7q31.The entire RAY1/ST7 gene, including intron/exon boundaries and alternate 5′ and 3′ sequences of 15/124 (12%) informative cancers with LOH were characterized. No somatic mutations of the RAY1/ST7 gene were observed. Our results do not support a role for RAY1/ST7 as a colorectal cancer tumor suppressor gene. [Copyright &y& Elsevier]

Published
2004
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