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2,664 results on '"Yao, Song"'

351. Association of progesterone receptor status with 21-gene recurrence score and survival among patients with estrogen receptor-positive breast cancer

Author

Ma, Sung Jun, primary, Gill, Jasmin, additional, Yendamuri, Keerti, additional, Chatterjee, Udit, additional, Waldman, Olivia, additional, Dunne-Jaffe, Cynthia, additional, Fekrmandi, Fatemeh, additional, Shekher, Rohil, additional, Iovoli, Austin, additional, Yao, Song, additional, Oladeru, Oluwadamilola T., additional, and Singh, Anurag K., additional

Published
2023
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353. Supplemental Table 14 from Association Between Recreational Physical Activity and mTOR Signaling Pathway Protein Expression in Breast Tumor Tissue

Author

Cheng, Ting-Yuan David, primary, Zhang, Runzhi, primary, Gong, Zhihong, primary, Qin, Bo, primary, Cannioto, Rikki A., primary, Datta, Susmita, primary, Zhang, Weizhou, primary, Omilian, Angela R., primary, Yao, Song, primary, Khoury, Thaer, primary, Hong, Chi-Chen, primary, Bandera, Elisa V., primary, and Ambrosone, Christine B., primary

Published
2023
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354. Supplemental Table 4 from Association Between Recreational Physical Activity and mTOR Signaling Pathway Protein Expression in Breast Tumor Tissue

Author

Cheng, Ting-Yuan David, primary, Zhang, Runzhi, primary, Gong, Zhihong, primary, Qin, Bo, primary, Cannioto, Rikki A., primary, Datta, Susmita, primary, Zhang, Weizhou, primary, Omilian, Angela R., primary, Yao, Song, primary, Khoury, Thaer, primary, Hong, Chi-Chen, primary, Bandera, Elisa V., primary, and Ambrosone, Christine B., primary

Published
2023
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355. Data from Association Between Recreational Physical Activity and mTOR Signaling Pathway Protein Expression in Breast Tumor Tissue

Author

Cheng, Ting-Yuan David, primary, Zhang, Runzhi, primary, Gong, Zhihong, primary, Qin, Bo, primary, Cannioto, Rikki A., primary, Datta, Susmita, primary, Zhang, Weizhou, primary, Omilian, Angela R., primary, Yao, Song, primary, Khoury, Thaer, primary, Hong, Chi-Chen, primary, Bandera, Elisa V., primary, and Ambrosone, Christine B., primary

Published
2023
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356. Supplemental Table 6 from Association Between Recreational Physical Activity and mTOR Signaling Pathway Protein Expression in Breast Tumor Tissue

Author

Cheng, Ting-Yuan David, primary, Zhang, Runzhi, primary, Gong, Zhihong, primary, Qin, Bo, primary, Cannioto, Rikki A., primary, Datta, Susmita, primary, Zhang, Weizhou, primary, Omilian, Angela R., primary, Yao, Song, primary, Khoury, Thaer, primary, Hong, Chi-Chen, primary, Bandera, Elisa V., primary, and Ambrosone, Christine B., primary

Published
2023
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357. Supplemental Table 8 from Association Between Recreational Physical Activity and mTOR Signaling Pathway Protein Expression in Breast Tumor Tissue

Author

Cheng, Ting-Yuan David, primary, Zhang, Runzhi, primary, Gong, Zhihong, primary, Qin, Bo, primary, Cannioto, Rikki A., primary, Datta, Susmita, primary, Zhang, Weizhou, primary, Omilian, Angela R., primary, Yao, Song, primary, Khoury, Thaer, primary, Hong, Chi-Chen, primary, Bandera, Elisa V., primary, and Ambrosone, Christine B., primary

Published
2023
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358. Supplemental Table 2 from Association Between Recreational Physical Activity and mTOR Signaling Pathway Protein Expression in Breast Tumor Tissue

Author

Cheng, Ting-Yuan David, primary, Zhang, Runzhi, primary, Gong, Zhihong, primary, Qin, Bo, primary, Cannioto, Rikki A., primary, Datta, Susmita, primary, Zhang, Weizhou, primary, Omilian, Angela R., primary, Yao, Song, primary, Khoury, Thaer, primary, Hong, Chi-Chen, primary, Bandera, Elisa V., primary, and Ambrosone, Christine B., primary

Published
2023
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359. Supplemental Table 5 from Association Between Recreational Physical Activity and mTOR Signaling Pathway Protein Expression in Breast Tumor Tissue

Author

Cheng, Ting-Yuan David, primary, Zhang, Runzhi, primary, Gong, Zhihong, primary, Qin, Bo, primary, Cannioto, Rikki A., primary, Datta, Susmita, primary, Zhang, Weizhou, primary, Omilian, Angela R., primary, Yao, Song, primary, Khoury, Thaer, primary, Hong, Chi-Chen, primary, Bandera, Elisa V., primary, and Ambrosone, Christine B., primary

Published
2023
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360. Supplemental Table 3 from Association Between Recreational Physical Activity and mTOR Signaling Pathway Protein Expression in Breast Tumor Tissue

Author

Cheng, Ting-Yuan David, primary, Zhang, Runzhi, primary, Gong, Zhihong, primary, Qin, Bo, primary, Cannioto, Rikki A., primary, Datta, Susmita, primary, Zhang, Weizhou, primary, Omilian, Angela R., primary, Yao, Song, primary, Khoury, Thaer, primary, Hong, Chi-Chen, primary, Bandera, Elisa V., primary, and Ambrosone, Christine B., primary

Published
2023
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361. Supplemental Table 9 from Association Between Recreational Physical Activity and mTOR Signaling Pathway Protein Expression in Breast Tumor Tissue

Author

Cheng, Ting-Yuan David, primary, Zhang, Runzhi, primary, Gong, Zhihong, primary, Qin, Bo, primary, Cannioto, Rikki A., primary, Datta, Susmita, primary, Zhang, Weizhou, primary, Omilian, Angela R., primary, Yao, Song, primary, Khoury, Thaer, primary, Hong, Chi-Chen, primary, Bandera, Elisa V., primary, and Ambrosone, Christine B., primary

Published
2023
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362. Supplemental Table 7 from Association Between Recreational Physical Activity and mTOR Signaling Pathway Protein Expression in Breast Tumor Tissue

Author

Cheng, Ting-Yuan David, primary, Zhang, Runzhi, primary, Gong, Zhihong, primary, Qin, Bo, primary, Cannioto, Rikki A., primary, Datta, Susmita, primary, Zhang, Weizhou, primary, Omilian, Angela R., primary, Yao, Song, primary, Khoury, Thaer, primary, Hong, Chi-Chen, primary, Bandera, Elisa V., primary, and Ambrosone, Christine B., primary

Published
2023
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364. Supplementary Table S3 from Characterizing Genetic Susceptibility to Breast Cancer in Women of African Ancestry

Author

Feng, Ye, primary, Rhie, Suhn Kyong, primary, Huo, Dezheng, primary, Ruiz-Narvaez, Edward A., primary, Haddad, Stephen A., primary, Ambrosone, Christine B., primary, John, Esther M., primary, Bernstein, Leslie, primary, Zheng, Wei, primary, Hu, Jennifer J., primary, Ziegler, Regina G., primary, Nyante, Sarah, primary, Bandera, Elisa V., primary, Ingles, Sue A., primary, Press, Michael F., primary, Deming, Sandra L., primary, Rodriguez-Gil, Jorge L., primary, Zheng, Yonglan, primary, Yao, Song, primary, Han, Yoo-Jeong, primary, Ogundiran, Temidayo O., primary, Rebbeck, Timothy R., primary, Adebamowo, Clement, primary, Ojengbede, Oladosu, primary, Falusi, Adeyinka G., primary, Hennis, Anselm, primary, Nemesure, Barbara, primary, Ambs, Stefan, primary, Blot, William, primary, Cai, Qiuyin, primary, Signorello, Lisa, primary, Nathanson, Katherine L., primary, Lunetta, Kathryn L., primary, Sucheston-Campbell, Lara E., primary, Bensen, Jeannette T., primary, Chanock, Stephen J., primary, Marchand, Loic Le, primary, Olshan, Andrew F., primary, Kolonel, Laurence N., primary, Conti, David V., primary, Coetzee, Gerhard A., primary, Stram, Daniel O., primary, Olopade, Olufunmilayo I., primary, Palmer, Julie R., primary, and Haiman, Christopher A., primary

Published
2023
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365. Data from Genetic Variants in Immune-Related Pathways and Breast Cancer Risk in African American Women in the AMBER Consortium

Author

Hong, Chi-Chen, primary, Sucheston-Campbell, Lara E., primary, Liu, Song, primary, Hu, Qiang, primary, Yao, Song, primary, Lunetta, Kathryn L., primary, Haddad, Stephen A., primary, Ruiz-Narváez, Edward A., primary, Bensen, Jeannette T., primary, Cheng, Ting-Yuan David, primary, Bandera, Elisa V., primary, Rosenberg, Lynn A., primary, Haiman, Christopher A., primary, Lee, Kelvin, primary, Evans, Sharon S., primary, Abrams, Scott I., primary, Repasky, Elizabeth A., primary, Olshan, Andrew F., primary, Palmer, Julie R., primary, and Ambrosone, Christine B., primary

Published
2023
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366. Supplementary Table 4 from Genetic Variants in Immune-Related Pathways and Breast Cancer Risk in African American Women in the AMBER Consortium

Author

Hong, Chi-Chen, primary, Sucheston-Campbell, Lara E., primary, Liu, Song, primary, Hu, Qiang, primary, Yao, Song, primary, Lunetta, Kathryn L., primary, Haddad, Stephen A., primary, Ruiz-Narváez, Edward A., primary, Bensen, Jeannette T., primary, Cheng, Ting-Yuan David, primary, Bandera, Elisa V., primary, Rosenberg, Lynn A., primary, Haiman, Christopher A., primary, Lee, Kelvin, primary, Evans, Sharon S., primary, Abrams, Scott I., primary, Repasky, Elizabeth A., primary, Olshan, Andrew F., primary, Palmer, Julie R., primary, and Ambrosone, Christine B., primary

Published
2023
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367. Supplementary Table 6 from Genetic Variants in Immune-Related Pathways and Breast Cancer Risk in African American Women in the AMBER Consortium

Author

Hong, Chi-Chen, primary, Sucheston-Campbell, Lara E., primary, Liu, Song, primary, Hu, Qiang, primary, Yao, Song, primary, Lunetta, Kathryn L., primary, Haddad, Stephen A., primary, Ruiz-Narváez, Edward A., primary, Bensen, Jeannette T., primary, Cheng, Ting-Yuan David, primary, Bandera, Elisa V., primary, Rosenberg, Lynn A., primary, Haiman, Christopher A., primary, Lee, Kelvin, primary, Evans, Sharon S., primary, Abrams, Scott I., primary, Repasky, Elizabeth A., primary, Olshan, Andrew F., primary, Palmer, Julie R., primary, and Ambrosone, Christine B., primary

Published
2023
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368. Supplementary Table 1 from Genetic Variants in Immune-Related Pathways and Breast Cancer Risk in African American Women in the AMBER Consortium

Author

Hong, Chi-Chen, primary, Sucheston-Campbell, Lara E., primary, Liu, Song, primary, Hu, Qiang, primary, Yao, Song, primary, Lunetta, Kathryn L., primary, Haddad, Stephen A., primary, Ruiz-Narváez, Edward A., primary, Bensen, Jeannette T., primary, Cheng, Ting-Yuan David, primary, Bandera, Elisa V., primary, Rosenberg, Lynn A., primary, Haiman, Christopher A., primary, Lee, Kelvin, primary, Evans, Sharon S., primary, Abrams, Scott I., primary, Repasky, Elizabeth A., primary, Olshan, Andrew F., primary, Palmer, Julie R., primary, and Ambrosone, Christine B., primary

Published
2023
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369. Supplementary tables 1s-4s from The Impact of DNA Input Amount and DNA Source on the Performance of Whole-Exome Sequencing in Cancer Epidemiology

Author

Zhu, Qianqian, primary, Hu, Qiang, primary, Shepherd, Lori, primary, Wang, Jianmin, primary, Wei, Lei, primary, Morrison, Carl D., primary, Conroy, Jeffrey M., primary, Glenn, Sean T., primary, Davis, Warren, primary, Kwan, Marilyn L., primary, Ergas, Isaac J., primary, Roh, Janise M., primary, Kushi, Lawrence H., primary, Ambrosone, Christine B., primary, Liu, Song, primary, and Yao, Song, primary

Published
2023
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370. Supplementary Fig Leg from Characterizing Genetic Susceptibility to Breast Cancer in Women of African Ancestry

Author

Feng, Ye, primary, Rhie, Suhn Kyong, primary, Huo, Dezheng, primary, Ruiz-Narvaez, Edward A., primary, Haddad, Stephen A., primary, Ambrosone, Christine B., primary, John, Esther M., primary, Bernstein, Leslie, primary, Zheng, Wei, primary, Hu, Jennifer J., primary, Ziegler, Regina G., primary, Nyante, Sarah, primary, Bandera, Elisa V., primary, Ingles, Sue A., primary, Press, Michael F., primary, Deming, Sandra L., primary, Rodriguez-Gil, Jorge L., primary, Zheng, Yonglan, primary, Yao, Song, primary, Han, Yoo-Jeong, primary, Ogundiran, Temidayo O., primary, Rebbeck, Timothy R., primary, Adebamowo, Clement, primary, Ojengbede, Oladosu, primary, Falusi, Adeyinka G., primary, Hennis, Anselm, primary, Nemesure, Barbara, primary, Ambs, Stefan, primary, Blot, William, primary, Cai, Qiuyin, primary, Signorello, Lisa, primary, Nathanson, Katherine L., primary, Lunetta, Kathryn L., primary, Sucheston-Campbell, Lara E., primary, Bensen, Jeannette T., primary, Chanock, Stephen J., primary, Marchand, Loic Le, primary, Olshan, Andrew F., primary, Kolonel, Laurence N., primary, Conti, David V., primary, Coetzee, Gerhard A., primary, Stram, Daniel O., primary, Olopade, Olufunmilayo I., primary, Palmer, Julie R., primary, and Haiman, Christopher A., primary

Published
2023
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371. Supplementary Figure 2s from The Impact of DNA Input Amount and DNA Source on the Performance of Whole-Exome Sequencing in Cancer Epidemiology

Author

Zhu, Qianqian, primary, Hu, Qiang, primary, Shepherd, Lori, primary, Wang, Jianmin, primary, Wei, Lei, primary, Morrison, Carl D., primary, Conroy, Jeffrey M., primary, Glenn, Sean T., primary, Davis, Warren, primary, Kwan, Marilyn L., primary, Ergas, Isaac J., primary, Roh, Janise M., primary, Kushi, Lawrence H., primary, Ambrosone, Christine B., primary, Liu, Song, primary, and Yao, Song, primary

Published
2023
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372. Supplementary Methods1 from Genetic Variants in Immune-Related Pathways and Breast Cancer Risk in African American Women in the AMBER Consortium

Author

Hong, Chi-Chen, primary, Sucheston-Campbell, Lara E., primary, Liu, Song, primary, Hu, Qiang, primary, Yao, Song, primary, Lunetta, Kathryn L., primary, Haddad, Stephen A., primary, Ruiz-Narváez, Edward A., primary, Bensen, Jeannette T., primary, Cheng, Ting-Yuan David, primary, Bandera, Elisa V., primary, Rosenberg, Lynn A., primary, Haiman, Christopher A., primary, Lee, Kelvin, primary, Evans, Sharon S., primary, Abrams, Scott I., primary, Repasky, Elizabeth A., primary, Olshan, Andrew F., primary, Palmer, Julie R., primary, and Ambrosone, Christine B., primary

Published
2023
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375. Supplementary Table 3 from Genetic Variants in Immune-Related Pathways and Breast Cancer Risk in African American Women in the AMBER Consortium

Author

Hong, Chi-Chen, primary, Sucheston-Campbell, Lara E., primary, Liu, Song, primary, Hu, Qiang, primary, Yao, Song, primary, Lunetta, Kathryn L., primary, Haddad, Stephen A., primary, Ruiz-Narváez, Edward A., primary, Bensen, Jeannette T., primary, Cheng, Ting-Yuan David, primary, Bandera, Elisa V., primary, Rosenberg, Lynn A., primary, Haiman, Christopher A., primary, Lee, Kelvin, primary, Evans, Sharon S., primary, Abrams, Scott I., primary, Repasky, Elizabeth A., primary, Olshan, Andrew F., primary, Palmer, Julie R., primary, and Ambrosone, Christine B., primary

Published
2023
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376. Supplementary Table 5 from Genetic Variants in Immune-Related Pathways and Breast Cancer Risk in African American Women in the AMBER Consortium

Author

Hong, Chi-Chen, primary, Sucheston-Campbell, Lara E., primary, Liu, Song, primary, Hu, Qiang, primary, Yao, Song, primary, Lunetta, Kathryn L., primary, Haddad, Stephen A., primary, Ruiz-Narváez, Edward A., primary, Bensen, Jeannette T., primary, Cheng, Ting-Yuan David, primary, Bandera, Elisa V., primary, Rosenberg, Lynn A., primary, Haiman, Christopher A., primary, Lee, Kelvin, primary, Evans, Sharon S., primary, Abrams, Scott I., primary, Repasky, Elizabeth A., primary, Olshan, Andrew F., primary, Palmer, Julie R., primary, and Ambrosone, Christine B., primary

Published
2023
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378. Supplementary Table 2 from Genetic Variants in Immune-Related Pathways and Breast Cancer Risk in African American Women in the AMBER Consortium

Author

Hong, Chi-Chen, primary, Sucheston-Campbell, Lara E., primary, Liu, Song, primary, Hu, Qiang, primary, Yao, Song, primary, Lunetta, Kathryn L., primary, Haddad, Stephen A., primary, Ruiz-Narváez, Edward A., primary, Bensen, Jeannette T., primary, Cheng, Ting-Yuan David, primary, Bandera, Elisa V., primary, Rosenberg, Lynn A., primary, Haiman, Christopher A., primary, Lee, Kelvin, primary, Evans, Sharon S., primary, Abrams, Scott I., primary, Repasky, Elizabeth A., primary, Olshan, Andrew F., primary, Palmer, Julie R., primary, and Ambrosone, Christine B., primary

Published
2023
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379. Supplementary Figure S2 from Characterizing Genetic Susceptibility to Breast Cancer in Women of African Ancestry

Author

Feng, Ye, primary, Rhie, Suhn Kyong, primary, Huo, Dezheng, primary, Ruiz-Narvaez, Edward A., primary, Haddad, Stephen A., primary, Ambrosone, Christine B., primary, John, Esther M., primary, Bernstein, Leslie, primary, Zheng, Wei, primary, Hu, Jennifer J., primary, Ziegler, Regina G., primary, Nyante, Sarah, primary, Bandera, Elisa V., primary, Ingles, Sue A., primary, Press, Michael F., primary, Deming, Sandra L., primary, Rodriguez-Gil, Jorge L., primary, Zheng, Yonglan, primary, Yao, Song, primary, Han, Yoo-Jeong, primary, Ogundiran, Temidayo O., primary, Rebbeck, Timothy R., primary, Adebamowo, Clement, primary, Ojengbede, Oladosu, primary, Falusi, Adeyinka G., primary, Hennis, Anselm, primary, Nemesure, Barbara, primary, Ambs, Stefan, primary, Blot, William, primary, Cai, Qiuyin, primary, Signorello, Lisa, primary, Nathanson, Katherine L., primary, Lunetta, Kathryn L., primary, Sucheston-Campbell, Lara E., primary, Bensen, Jeannette T., primary, Chanock, Stephen J., primary, Marchand, Loic Le, primary, Olshan, Andrew F., primary, Kolonel, Laurence N., primary, Conti, David V., primary, Coetzee, Gerhard A., primary, Stram, Daniel O., primary, Olopade, Olufunmilayo I., primary, Palmer, Julie R., primary, and Haiman, Christopher A., primary

Published
2023
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386. Supplementary Figure 1s from The Impact of DNA Input Amount and DNA Source on the Performance of Whole-Exome Sequencing in Cancer Epidemiology

Author

Zhu, Qianqian, primary, Hu, Qiang, primary, Shepherd, Lori, primary, Wang, Jianmin, primary, Wei, Lei, primary, Morrison, Carl D., primary, Conroy, Jeffrey M., primary, Glenn, Sean T., primary, Davis, Warren, primary, Kwan, Marilyn L., primary, Ergas, Isaac J., primary, Roh, Janise M., primary, Kushi, Lawrence H., primary, Ambrosone, Christine B., primary, Liu, Song, primary, and Yao, Song, primary

Published
2023
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390. mTOR pathway candidate genes and physical activity interaction on breast cancer risk in black women from the women’s circle of health study

Author

Ilozumba, Mmadili N., primary, Yaghjyan, Lusine, additional, Datta, Susmita, additional, Zhao, Jinying, additional, Gong, Zhihong, additional, Hong, Chi-Chen, additional, Lunetta, Kathryn L., additional, Zirpoli, Gary, additional, Bandera, Elisa V., additional, Palmer, Julie R., additional, Yao, Song, additional, Ambrosone, Christine B., additional, and Cheng, Ting-Yuan David, additional

Published
2023
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392. Association Between Recreational Physical Activity and mTOR Signaling Pathway Protein Expression in Breast Tumor Tissue

Author

Cheng, Ting-Yuan David, primary, Zhang, Runzhi, additional, Gong, Zhihong, additional, Qin, Bo, additional, Cannioto, Rikki A., additional, Datta, Susmita, additional, Zhang, Weizhou, additional, Omilian, Angela R., additional, Yao, Song, additional, Khoury, Thaer, additional, Hong, Chi-Chen, additional, Bandera, Elisa V., additional, and Ambrosone, Christine B., additional

Published
2023
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396. Comparison of Different Methods for RNA Extraction from Floral Buds of Tree Peony (Paeonia suffruticosa Andr.)

Author

Yan GAO, Guangqi ZHAO, Changhua JIANG, Yao SONG, Kang YE, and Shucheng FENG

Subjects
Forestry, SD1-669.5, Agriculture (General), S1-972
Abstract

Tree peony (Paeonia suffruticosa Andr.), a species native to China, is one of the most important ornamental and medicinal plants. Like other tree species in temperate and boreal zones, the dormancy-activity transition of floral buds is critical for blooming time and fruit production. However, floral buds contain high levels of secondary metabolites, making the isolation of high quality RNA difficult. To obtain a method suitable for extracting RNA from floral buds of tree peony, we evaluated five different methods, including the cetyltrimethylammonium bromide (CTAB) and Sodium dodecyl sulfate (SDS)-based methods, a modified SDS-TRNzol protocol, and two commercial kits (TRNzol and Qiagen RNeasy Plant Mini Kit). The modified SDS-TRNzol method was capable of efficiently removing polyphenols and other metabolites in floral buds. The isolated RNA was of high purity and integrity, as demonstrated by the the A260/280 ratio of approximately 2.0, and RIN values of more than 9.0. Gel electrophoresis analysis indicated that the extracted RNA had clear 28S and 18S ribosomal RNA bands without DNA contamination. The RNA isolated by this protocol was successfully used for downstream manipulations, such as RT-PCR, RACE, and real-time PCR. Together, the modified SDS-TRNzol protocol is an easy, efficient, and highly reproducible method for RNA isolation from floral buds rich in secondary metabolites.

Published
2016
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397. Development and testing of a polygenic risk score for breast cancer aggressiveness.

Author

Shieh, Yiwey, Shieh, Yiwey, Roger, Jacquelyn, Yau, Christina, Wolf, Denise M, Hirst, Gillian L, Swigart, Lamorna Brown, Huntsman, Scott, Hu, Donglei, Nierenberg, Jovia L, Middha, Pooja, Heise, Rachel S, Shi, Yushu, Kachuri, Linda, Zhu, Qianqian, Yao, Song, Ambrosone, Christine B, Kwan, Marilyn L, Caan, Bette J, Witte, John S, Kushi, Lawrence H, 't Veer, Laura van, Esserman, Laura J, Ziv, Elad, Shieh, Yiwey, Shieh, Yiwey, Roger, Jacquelyn, Yau, Christina, Wolf, Denise M, Hirst, Gillian L, Swigart, Lamorna Brown, Huntsman, Scott, Hu, Donglei, Nierenberg, Jovia L, Middha, Pooja, Heise, Rachel S, Shi, Yushu, Kachuri, Linda, Zhu, Qianqian, Yao, Song, Ambrosone, Christine B, Kwan, Marilyn L, Caan, Bette J, Witte, John S, Kushi, Lawrence H, 't Veer, Laura van, Esserman, Laura J, and Ziv, Elad

Abstract

Aggressive breast cancers portend a poor prognosis, but current polygenic risk scores (PRSs) for breast cancer do not reliably predict aggressive cancers. Aggressiveness can be effectively recapitulated using tumor gene expression profiling. Thus, we sought to develop a PRS for the risk of recurrence score weighted on proliferation (ROR-P), an established prognostic signature. Using 2363 breast cancers with tumor gene expression data and single nucleotide polymorphism (SNP) genotypes, we examined the associations between ROR-P and known breast cancer susceptibility SNPs using linear regression models. We constructed PRSs based on varying p-value thresholds and selected the optimal PRS based on model r2 in 5-fold cross-validation. We then used Cox proportional hazards regression to test the ROR-P PRS's association with breast cancer-specific survival in two independent cohorts totaling 10,196 breast cancers and 785 events. In meta-analysis of these cohorts, higher ROR-P PRS was associated with worse survival, HR per SD = 1.13 (95% CI 1.06-1.21, p = 4.0 × 10-4). The ROR-P PRS had a similar magnitude of effect on survival as a comparator PRS for estrogen receptor (ER)-negative versus positive cancer risk (PRSER-/ER+). Furthermore, its effect was minimally attenuated when adjusted for PRSER-/ER+, suggesting that the ROR-P PRS provides additional prognostic information beyond ER status. In summary, we used integrated analysis of germline SNP and tumor gene expression data to construct a PRS associated with aggressive tumor biology and worse survival. These findings could potentially enhance risk stratification for breast cancer screening and prevention.

Published
2023

398. ENIGMA CHEK2gether Project:A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

Author

Stolarova, Lenka, Kleiblova, Petra, Zemankova, Petra, Stastna, Barbora, Janatova, Marketa, Soukupova, Jana, Achatz, Maria Isabel, Ambrosone, Christine, Apostolou, Paraskevi, Arun, Banu K., Auer, Paul, Barnard, Mollie, Bertelsen, Birgitte, Japan, Biobank, Blok, Marinus J., Boddicker, Nicholas, Brunet, Joan, Burnside, Elizabeth S., Calvello, Mariarosaria, Campbell, Ian, Chan, Sock Hoai, Chen, Fei, Chiang, Jian Bang, Coppa, Anna, Cortesi, Laura, Crujeiras-González, Ana, Czecanca, Consortium, De Leeneer, Kim, De Putter, Robin, DePersia, Allison, Devereux, Lisa, Domchek, Susan, Efremidis, Anna, Engel, Christoph, Ernst, Corinna, Evans, Gareth D.R., Feliubadaló, Lidia, Fostira, Florentia, Fuentes-Ríos, Olivia, Gómez-García, Encarna B., González, Sara, Haiman, Christopher, van Overeem Hansen, Thomas, Hauke, Jan, Hodge, James, Hu, Chunling, Huang, Hongyan, Binte Ishak, Nur Diana, Iwasaki, Yusuke, Konstantopoulou, Irene, Kraft, Peter, Lacey, James, Lázaro, Conxi, Li, Na, Lim, Weng Khong, Lindstrom, Sara, Lori, Adriana, Martinez, Elana, Martins, Alexandra, Matsuda, Koichi, Matullo, Giuseppe, McInerny, Simone, Michailidou, Kyriaki, Montagna, Marco, Monteiro, Alvaro N.A., Mori, Luigi, Nathanson, Katherine, Neuhausen, Susan L., Nevanlinna, Heli, Olson, Janet E., Palmer, Julie, Pasini, Barbara, Patel, Alpa, Piane, Maria, Poppe, Bruce, Radice, Paolo, Renieri, Alessandra, Resta, Nicoletta, Richardson, Marcy E., Rosseel, Toon, Ruddy, Kathryn J., Santamariña, Marta, Dos Santos, Elizabeth Santana, Teras, Lauren, Toland, Amanda E., Trentham-Dietz, Amy, Vachon, Celine M., Volk, Alexander E., Weber-Lassalle, Nana, Weitzel, Jeffrey N., Wiesmuller, Lisa, Winham, Stacey, Yadav, Siddhartha, Yannoukakos, Drakoulis, Yao, Song, Zampiga, Valentina, Zethoven, Magnus, Zhang, Ze Wen, Zima, Tomas, Spurdle, Amanda B., Vega, Ana, Rossing, Maria, Valle, Jesús Del, De Nicolo, Arcangela, Hahnen, Eric, Claes, Kathleen B.M., Ngeow, Joanne, Momozawa, Yukihide, James, Paul A., Couch, Fergus J., Macurek, Libor, Kleibl, Zdenek, Stolarova, Lenka, Kleiblova, Petra, Zemankova, Petra, Stastna, Barbora, Janatova, Marketa, Soukupova, Jana, Achatz, Maria Isabel, Ambrosone, Christine, Apostolou, Paraskevi, Arun, Banu K., Auer, Paul, Barnard, Mollie, Bertelsen, Birgitte, Japan, Biobank, Blok, Marinus J., Boddicker, Nicholas, Brunet, Joan, Burnside, Elizabeth S., Calvello, Mariarosaria, Campbell, Ian, Chan, Sock Hoai, Chen, Fei, Chiang, Jian Bang, Coppa, Anna, Cortesi, Laura, Crujeiras-González, Ana, Czecanca, Consortium, De Leeneer, Kim, De Putter, Robin, DePersia, Allison, Devereux, Lisa, Domchek, Susan, Efremidis, Anna, Engel, Christoph, Ernst, Corinna, Evans, Gareth D.R., Feliubadaló, Lidia, Fostira, Florentia, Fuentes-Ríos, Olivia, Gómez-García, Encarna B., González, Sara, Haiman, Christopher, van Overeem Hansen, Thomas, Hauke, Jan, Hodge, James, Hu, Chunling, Huang, Hongyan, Binte Ishak, Nur Diana, Iwasaki, Yusuke, Konstantopoulou, Irene, Kraft, Peter, Lacey, James, Lázaro, Conxi, Li, Na, Lim, Weng Khong, Lindstrom, Sara, Lori, Adriana, Martinez, Elana, Martins, Alexandra, Matsuda, Koichi, Matullo, Giuseppe, McInerny, Simone, Michailidou, Kyriaki, Montagna, Marco, Monteiro, Alvaro N.A., Mori, Luigi, Nathanson, Katherine, Neuhausen, Susan L., Nevanlinna, Heli, Olson, Janet E., Palmer, Julie, Pasini, Barbara, Patel, Alpa, Piane, Maria, Poppe, Bruce, Radice, Paolo, Renieri, Alessandra, Resta, Nicoletta, Richardson, Marcy E., Rosseel, Toon, Ruddy, Kathryn J., Santamariña, Marta, Dos Santos, Elizabeth Santana, Teras, Lauren, Toland, Amanda E., Trentham-Dietz, Amy, Vachon, Celine M., Volk, Alexander E., Weber-Lassalle, Nana, Weitzel, Jeffrey N., Wiesmuller, Lisa, Winham, Stacey, Yadav, Siddhartha, Yannoukakos, Drakoulis, Yao, Song, Zampiga, Valentina, Zethoven, Magnus, Zhang, Ze Wen, Zima, Tomas, Spurdle, Amanda B., Vega, Ana, Rossing, Maria, Valle, Jesús Del, De Nicolo, Arcangela, Hahnen, Eric, Claes, Kathleen B.M., Ngeow, Joanne, Momozawa, Yukihide, James, Paul A., Couch, Fergus J., Macurek, Libor, and Kleibl, Zdenek

Abstract

Purpose: Germline pathogenic variants in CHEK2 confer moderately elevated breast cancer risk (odds ratio, OR ∼ 2.5), qualifying carriers for enhanced breast cancer screening. Besides pathogenic variants, dozens of missense CHEK2 variants of uncertain significance (VUS) have been identified, hampering the clinical utility of germline genetic testing (GGT). Experimental Design: We collected 460 CHEK2 missense VUS identified by the ENIGMA consortium in 15 countries. Their functional characterization was performed using CHEK2-complementation assays quantifying KAP1 phosphorylation and CHK2 autophosphorylation in human RPE1–CHEK2-knockout cells. Concordant results in both functional assays were used to categorize CHEK2 VUS from 12 ENIGMA case–control datasets, including 73,048 female patients with breast cancer and 88,658 ethnicity-matched controls. Results: A total of 430/460 VUS were successfully analyzed, of which 340 (79.1%) were concordant in both functional assays and categorized as functionally impaired (N = 102), functionally intermediate (N = 12), or functionally wild-type (WT)–like (N = 226). We then examined their association with breast cancer risk in the case–control analysis. The OR and 95% CI (confidence intervals) for carriers of functionally impaired, intermediate, and WT-like variants were 2.83 (95% CI, 2.35–3.41), 1.57 (95% CI, 1.41–1.75), and 1.19 (95% CI, 1.08–1.31), respectively. The meta-analysis of population-specific datasets showed similar results. Conclusions: We determined the functional consequences for the majority of CHEK2 missense VUS found in patients with breast cancer (3,660/4,436; 82.5%). Carriers of functionally impaired missense variants accounted for 0.5% of patients with breast cancer and were associated with a moderate risk similar to that of truncating CHEK2 variants. In contrast, 2.2% of all patients with breast cancer carried functionally wild-type/intermediate missense variants with n, Purpose: Germline pathogenic variants in CHEK2 confer moderately elevated breast cancer risk (odds ratio, OR ~ 2.5), qualifying carriers for enhanced breast cancer screening. Besides pathogenic variants, dozens of missense CHEK2 variants of uncertain significance (VUS) have been identified, hampering the clinical utility of germline genetic testing (GGT). Experimental Design: We collected 460 CHEK2 missense VUS identified by the ENIGMA consortium in 15 countries. Their functional characterization was performed using CHEK2-complementation assays quantifying KAP1 phosphorylation and CHK2 autophosphorylation in human RPE1–CHEK2-knockout cells. Concordant results in both functional assays were used to categorize CHEK2 VUS from 12 ENIGMA case–control datasets, including 73,048 female patients with breast cancer and 88,658 ethnicity-matched controls. Results: A total of 430/460 VUS were successfully analyzed, of which 340 (79.1%) were concordant in both functional assays and categorized as functionally impaired (N ¼ 102), functionally intermediate (N ¼ 12), or functionally wild-type (WT)–like (N ¼ 226). We then examined their association with breast cancer risk in the case–control analysis. The OR and 95% CI (confidence intervals) for carriers of functionally impaired, intermediate, and WT-like variants were 2.83 (95% CI, 2.35–3.41), 1.57 (95% CI, 1.41–1.75), and 1.19 (95% CI, 1.08–1.31), respectively. The meta-analysis of population-specific datasets showed similar results. Conclusions: We determined the functional consequences for the majority of CHEK2 missense VUS found in patients with breast cancer (3,660/4,436; 82.5%). Carriers of functionally impaired missense variants accounted for 0.5% of patients with breast cancer and were associated with a moderate risk similar to that of truncating CHEK2 variants. In contrast, 2.2% of all patients with breast cancer carried functionally wild-type/intermediate missense variants with no clinically relevant breast cancer risk

Published
2023

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