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4 results on '"Terrell C. Roane"'

1. Supplementary Table 3 from Rare Mutations in RINT1 Predispose Carriers to Breast and Lynch Syndrome–Spectrum Cancers

Author

David E. Goldgar, Melissa C. Southey, Sean V. Tavtigian, Fabienne Lesueur, Bing-Jian Feng, John L. Hopper, Graham G. Giles, Peter Devilee, Henry T. Lynch, Carrie Snyder, Saundra S. Buys, Mary Daly, Mary B. Terry, Irene L. Andrulis, Esther M. John, Igor V. Makunin, Jun Li, Jonathan Ellis, Chad D. Huff, Hao Hu, Russell Bell, Terrell C. Roane, Bernard J. Pope, Andrew Lonie, Catherine Voegele, Erin L. Young, Louise B. Thingholm, Zhi L. Teo, Helen Tsimiklis, Fabrice Odefrey, Fleur Hammet, Nivonirina Robinot, Tu Nguyen-Dumont, Florence Le Calvez-Kelm, Kayoko Tao, and Daniel J. Park

Abstract

PDF file 65K, Primers used in assessment of RINT1 transcripts

Published
2023
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2. Supplementary Figure 1 from Rare Mutations in RINT1 Predispose Carriers to Breast and Lynch Syndrome–Spectrum Cancers

Author

David E. Goldgar, Melissa C. Southey, Sean V. Tavtigian, Fabienne Lesueur, Bing-Jian Feng, John L. Hopper, Graham G. Giles, Peter Devilee, Henry T. Lynch, Carrie Snyder, Saundra S. Buys, Mary Daly, Mary B. Terry, Irene L. Andrulis, Esther M. John, Igor V. Makunin, Jun Li, Jonathan Ellis, Chad D. Huff, Hao Hu, Russell Bell, Terrell C. Roane, Bernard J. Pope, Andrew Lonie, Catherine Voegele, Erin L. Young, Louise B. Thingholm, Zhi L. Teo, Helen Tsimiklis, Fabrice Odefrey, Fleur Hammet, Nivonirina Robinot, Tu Nguyen-Dumont, Florence Le Calvez-Kelm, Kayoko Tao, and Daniel J. Park

Abstract

PDF file 199K, RINT1 c.1334-5delA, c.1334-1_1335delGTT minigene assay

Published
2023
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3. Supplementary Table 1 from Rare Mutations in RINT1 Predispose Carriers to Breast and Lynch Syndrome–Spectrum Cancers

Author

David E. Goldgar, Melissa C. Southey, Sean V. Tavtigian, Fabienne Lesueur, Bing-Jian Feng, John L. Hopper, Graham G. Giles, Peter Devilee, Henry T. Lynch, Carrie Snyder, Saundra S. Buys, Mary Daly, Mary B. Terry, Irene L. Andrulis, Esther M. John, Igor V. Makunin, Jun Li, Jonathan Ellis, Chad D. Huff, Hao Hu, Russell Bell, Terrell C. Roane, Bernard J. Pope, Andrew Lonie, Catherine Voegele, Erin L. Young, Louise B. Thingholm, Zhi L. Teo, Helen Tsimiklis, Fabrice Odefrey, Fleur Hammet, Nivonirina Robinot, Tu Nguyen-Dumont, Florence Le Calvez-Kelm, Kayoko Tao, and Daniel J. Park

Abstract

PDF file 69K, Distribution of cases and controls included in the analysis, by study center and ethnic group

Published
2023
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4. Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers

Author

Mary B. Daly, Fabrice Odefrey, John L. Hopper, Andrew Lonie, Sean V. Tavtigian, Erin L. Young, Jun Li, Igor V. Makunin, Kayoko Tao, Hao Hu, Fleur Hammet, Graham G. Giles, Terrell C Roane, Jonathan Ellis, Russell Bell, Irene L. Andrulis, Nivonirina Robinot, Melissa C. Southey, Catherine Voegele, Carrie Snyder, Louise B. Thingholm, David E. Goldgar, Mary Beth Terry, Esther M. John, Daniel J. Park, Tu Nguyen-Dumont, Zhi Ling Teo, Shankaracharya, Henry T. Lynch, Bing Jian Feng, Saundra S. Buys, Fabienne Lesueur, Peter Devilee, Florence Le Calvez-Kelm, Helen Tsimiklis, Bernard J. Pope, and Chad D. Huff

Subjects
Oncology, Male, medicine.medical_specialty, Population, Breast Neoplasms, Cell Cycle Proteins, Biology, Bioinformatics, Breast cancer, Internal medicine, medicine, Humans, Exome, Genetic Predisposition to Disease, education, Exome sequencing, Genetic testing, education.field_of_study, medicine.diagnostic_test, Cancer, Family aggregation, Genetic Variation, High-Throughput Nucleotide Sequencing, Sequence Analysis, DNA, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Lynch syndrome, Pedigree, Case-Control Studies, Mutation, Female
Abstract

Approximately half of the familial aggregation of breast cancer remains unexplained. A multiple-case breast cancer family exome-sequencing study identified three likely pathogenic mutations in RINT1 (NM_021930.4) not present in public sequencing databases: RINT1 c.343C>T (p.Q115X), c.1132_1134del (p.M378del), and c.1207G>T (p.D403Y). On the basis of this finding, a population-based case–control mutation-screening study was conducted that identified 29 carriers of rare (minor allele frequency < 0.5%), likely pathogenic variants: 23 in 1,313 early-onset breast cancer cases and six in 1,123 frequency-matched controls [OR, 3.24; 95% confidence interval (CI), 1.29–8.17; P = 0.013]. RINT1 mutation screening of probands from 798 multiple-case breast cancer families identified four additional carriers of rare genetic variants. Analysis of the incidence of first primary cancers in families of women carrying RINT1 mutations estimated that carriers were at increased risk of Lynch syndrome–spectrum cancers [standardized incidence ratio (SIR), 3.35; 95% CI, 1.7–6.0; P = 0.005], particularly for relatives diagnosed with cancer under the age of 60 years (SIR, 10.9; 95% CI, 4.7–21; P = 0.0003). Significance: The work described in this study adds RINT1 to the growing list of genes in which rare sequence variants are associated with intermediate levels of breast cancer risk. Given that RINT1 is also associated with a spectrum of cancers with mismatch repair defects, these findings have clinical applications and raise interesting biological questions. Cancer Discov; 4(7); 804–15. ©2014 AACR. See related commentary by Ngeow and Eng, p. 762 This article is highlighted in the In This Issue feature, p. 745

Published
2014

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