Germline drivers of gynecologic carcinosarcomas

Authors: Sia, Tiffany Y., Gordhandas, Sushmita B., Birsoy, Ozge, Kemel, Yelena, Maio, Anna, Salo-Mullen, Erin, Sheehan, Margaret, Hensley, Martee L., Rubinstein, Maria, Makker, Vicky, Grisham, Rachel N., O'Cearbhaill, Roisin E., Roche, Kara Long, Mueller, Jennifer J., Leitao, Mario M., Sonoda, Yukio, Chi, Dennis S., Abu-Rustum, Nadeem R., Berger, Michael F., Ellenson, Lora H., Latham, Alicia, Stadler, Zsofia, Offit, Kenneth, Aghajanian, Carol, Weigelt, Britta, Mandelker, Diana, Liu, Ying L.

Source: Gynecologic oncology. 174:34-41

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100194216969.0x000001&indx=1&recIds=ETOCvdc_100194216969.0x000001

Gene-based Confirmatory Germline Testing Following Tumor-only Sequencing of Prostate Cancer

Authors: Truong, Hong, Breen, Kelsey, Nandakumar, Subhiksha, Sjoberg, Daniel D., Kemel, Yelena, Mehta, Nikita, Lenis, Andrew T., Reisz, Peter A., Carruthers, Jessica, Benfante, Nicole, Joseph, Vijai, Khurram, Aliya, Gopalan, Anuradha, Fine, Samson W., Reuter, Victor E., Vickers, Andrew J., Birsoy, Ozge, Liu, Ying, Walsh, Michael, Latham, Alicia, Mandelker, Diana, Stadler, Zsofia K., Pietzak, Eugene, Ehdaie, Behfar, Touijer, Karim A., Laudone, Vincent P., Slovin, Susan F., Autio, Karen A., Danila, Daniel C., Rathkopf, Dana E., Eastham, James A., Chen, Yu, Morris, Michael J., Offit, Kenneth, Solit, David B., Scher, Howard I., Abida, Wassim, Robson, Mark E., Carlo, Maria I.

Source: European urology. 83(1):29-38

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100177521954.0x000001&indx=1&recIds=ETOCvdc_100177521954.0x000001

Disparities in cancer genetics care by race/ethnicity among pan‐cancer patients with pathogenic germline variants

Authors: Liu, Ying L., Maio, Anna, Kemel, Yelena, Salo‐Mullen, Erin E., Sheehan, Margaret, Tejada, Prince Ray, Trottier, Magan, Arnold, Angela G., Fleischut, Megan Harlan, Latham, Alicia, Carlo, Maria I., Murciano‐Goroff, Yonina R., Walsh, Michael F., Mandelker, Diana, Mehta, Nikita, Bandlamudi, Chaitanya, Arora, Kanika, Zehir, Ahmet, Berger, Michael F., Solit, David B., Aghajanian, Carol, Diaz, Luis A., Robson, Mark E., Brown, Carol L., Offit, Kenneth, Hamilton, Jada G., Stadler, Zsofia K.

Source: Cancer. 128(21):3870-3879

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100185441593.0x000001&indx=1&recIds=ETOCvdc_100185441593.0x000001

Early age of onset and broad cancer spectrum persist in MSH6- and PMS2-associated Lynch syndrome

Authors: Liu, Ying L., Cadoo, Karen A., Maio, Anna, Patel, Zalak, Kemel, Yelena, Salo-Mullen, Erin, Catchings, Amanda, Ranganathan, Megha, Kane, Sarah, Soslow, Robert, Ceyhan-Birsoy, Ozge, Mandelker, Diana, Carlo, Maria I., Walsh, Michael F., Shia, Jinru, Markowitz, Arnold J., Offit, Kenneth, Stadler, Zsofia K., Latham, Alicia

Source: In Genetics in Medicine June 2022 24(6):1187-1195

Paired Tumor-Normal Sequencing Provides Insights Into the TP53-Related Cancer Spectrum in Patients With Li-Fraumeni Syndrome

Authors: Ceyhan-Birsoy, Ozge, Selenica, Pier, Chui, M Herman, Jayakumaran, Gowtham, Ptashkin, Ryan, Misyura, Maksym, Aypar, Umut, Jairam, Sowmya, Yang, Ciyu, Li, Yirong, Mehta, Nikita, Kemel, Yelena, Salo-Mullen, Erin, Maio, Anna, Sheehan, Margaret, Zehir, Ahmet, Carlo, Maria, Latham, Alicia, Stadler, Zsofia, Robson, Mark, Offit, Kenneth, Ladanyi, Marc, Walsh, Michael, Reis-Filho, Jorge S, Mandelker, Diana

Source: Journal of the National Cancer Institute. 113(12):1751-1760

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100165266571.0x000001&indx=1&recIds=ETOCvdc_100165266571.0x000001

Lynch Syndrome and Somatic Mismatch Repair Variants in Pancreas Cancer.

Authors: O'Connor, Catherine A., Harrold, Emily, Lin, David, Walch, Henry, Gazzo, Andrea, Ranganathan, Megha, Kane, Sarah, Keane, Fergus, Schoenfeld, Joshua, Moss, Drew, Thurtle-Schmidt, Deborah M., Suehnholz, Sarah P., Chakravarty, Debyani, Balogun, Fiyinfolu, Varghese, Anna, Yu, Kenneth, Kelsen, David, Latham, Alicia, Weigelt, Britta, Park, Wungki

Source: JAMA Oncology; Nov2024, Vol. 10 Issue 11, p1511-1518, 8p

Retained mismatch repair protein expression occurs in approximately 6% of microsatellite instability-high cancers and is associated with missense mutations in mismatch repair genes

Authors: Hechtman, Jaclyn F., Rana, Satshil, Middha, Sumit, Stadler, Zsofia K., Latham, Alicia, Benayed, Ryma, Soslow, Robert, Ladanyi, Marc, Yaeger, Rona, Zehir, Ahmet, Shia, Jinru

Source: In Modern Pathology May 2020 33(5):871-879

Characterization of a germline variant MSH6 c.4001G > C in a Lynch syndrome family

Authors: Yang, Ciyu, Misyura, Maksym, Kane, Sarah, Rai, Vikas, Latham, Alicia, Zhang, Liying

Source: Molecular genetics & genomic medicine. 11(2)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100175220314.0x000001&indx=1&recIds=ETOCvdc_100175220314.0x000001

Clinical outcomes of patients with POLE mutated endometrioid endometrial cancer

Authors: Stasenko, Marina, Tunnage, Irina, Ashley, Charles W., Rubinstein, Maria M., Latham, Alicia J., Da Cruz Paula, Arnaud, Mueller, Jennifer J., Leitao, Mario M., Jr., Friedman, Claire F., Makker, Vicky, Soslow, Robert A., DeLair, Deborah F., Hyman, David M., Zamarin, Dimitriy, Alektiar, Kaled M., Aghajanian, Carol A., Abu-Rustum, Nadeem R., Weigelt, Britta, Cadoo, Karen A.

Source: In Gynecologic Oncology January 2020 156(1):194-202

11p15.5 epimutations in children with Wilms tumor and hepatoblastoma detected in peripheral blood

Authors: Fiala, Elise M., Ortiz, Michael V., Kennedy, Jennifer A., Glodzik, Dominik, Fleischut, Megan Harlan, Duffy, Kelly A., Hathaway, Evan R., Heaton, Todd, Gerstle, Justin T., Steinherz, Peter, Shukla, Neerav, McNeer, Nicole, Tkachuk, Kaitlyn, Bouvier, Nancy, Cadoo, Karen, Carlo, Maria I., Latham, Alicia, Dubard Gault, Marianne, Joseph, Vijai, Kemel, Yelena, Kentsis, Alex, Stadler, Zsofia, La Quaglia, Michael, Papaemmanuil, Elli, Friedman, Danielle, Ganguly, Arupa, Kung, Andrew, Offit, Kenneth, Kalish, Jennifer M., Walsh, Michael F.

Source: Cancer. 126(13):3114-3121

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100107441807.0x000001&indx=1&recIds=ETOCvdc_100107441807.0x000001

Utilization of clinical genetic counseling among childhood and young adult cancer survivors in a registry trial

Authors: Anderson, Nassim, Delavar, Arash, Friedman, Danielle Novetsky, Joseph, Vijai, Mubdi, Nidha, Oeffinger, Kevin C., Sklar, Charles A., Offit, Kenneth, Matasar, Matthew, Raghunathan, Nirupa, Antal, Zoltan, Straus, David, Walsh, Michael, Latham, Alicia, Tonorezos, Emily S.

Source: Journal of community genetics. 11(4):501-504

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100171774505.0x000001&indx=1&recIds=ETOCvdc_100171774505.0x000001

Microsatellite Instability Is Associated With the Presence of Lynch Syndrome Pan-Cancer

Authors: Latham, Alicia, Srinivasan, Preethi, Kemel, Yelena

Source: Journal of clinical oncology. 37(4):286-295

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN618807275&indx=1&recIds=ETOCRN618807275

Pathogenic germline variants in patients with endometrial cancer of diverse ancestry.

Authors: Liu, Ying L., Gordhandas, Sushmita, Arora, Kanika, Rios‐Doria, Eric, Cadoo, Karen A., Catchings, Amanda, Maio, Anna, Kemel, Yelena, Sheehan, Margaret, Salo‐Mullen, Erin, Zhou, Qin, Iasonos, Alexia, Carrot‐Zhang, Jian, Manning‐Geist, Beryl, Sia, Tiffany Y., Selenica, Pier, Vanderbilt, Chad, Misyura, Maksym, Latham, Alicia, Bandlamudi, Chaitanya

Source: Cancer (0008543X); Feb2024, Vol. 130 Issue 4, p576-587, 12p

Subject Terms: ENDOMETRIAL cancer, CANCER patients, GENETIC counseling, GERM cells, GENEALOGY, DNA mismatch repair

Company/Entity: MEMORIAL Sloan-Kettering Cancer Center

Benign splenic lesions in BAP1-tumor predisposition syndrome: a case series

Authors: Miranda, Joao, Dave, Priya, Kemel, Yelena, Sheikh, Rania, Zong, Grace, Calderon, Lina Posada, Will, Marie, Liu, Ying L., Walsh, Michael, Stadler, Zsofia K., Offit, Kenneth, Latham, Alicia, Mandelker, Diana, Chen, Ying-Bei, Andrieu, Pamela Causa, Carlo, Maria Isabel

Source: European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-5, 5p

An updated counseling framework for moderate-penetrance colorectal cancer susceptibility genes

Authors: Breen, Kelsey E., Katona, Bryson W., Catchings, Amanda, Ranganathan, Megha, Marcell, Vanessa, Latham, Alicia, Yurgelun, Matthew B., Stadler, Zsofia K.

Source: In Genetics in Medicine December 2022 24(12):2587-2590

Neoplasia risk in patients with Lynch syndrome treated with immune checkpoint blockade

Authors: Harrold, Emily C., Foote, Michael B., Rousseau, Benoit, Walch, Henry, Kemel, Yelena, Richards, Allison L., Keane, Fergus, Cercek, Andrea, Yaeger, Rona, Rathkopf, Dana, Segal, Neil H., Patel, Zalak, Maio, Anna, Borio, Matilde, O’Reilly, Eileen M., Reidy, Diane, Desai, Avni, Janjigian, Yelena Y., Murciano-Goroff, Yonina R., Carlo, Maria I., Latham, Alicia, Liu, Ying L., Walsh, Michael F., Ilson, David, Rosenberg, Jonathan E., Markowitz, Arnold J., Weiser, Martin R., Rossi, Anthony M., Vanderbilt, Chad, Mandelker, Diana, Bandlamudi, Chaitanya, Offit, Kenneth, Berger, Michael F., Solit, David B., Saltz, Leonard, Shia, Jinru, Diaz, Luis A., Stadler, Zsofia K.

Source: Nature Medicine; October 2023, Vol. 29 Issue: 10 p2458-2463, 6p

Defining hereditary upper tract urothelial carcinoma: Implications for genetic testing and clinical management.

Authors: Truong, Hong, Sheikh, Rania, Kemel, Yelena, De Jesus Escano, Manuel, Khurram, Aliya, Reisz, Peter, Lenis, Andrew Thomas, Goh, Alvin C., Cha, Eugene K., Bochner, Bernard H., Iyer, Gopa, Rosenberg, Jonathan E., Bajorin, Dean F., Solit, David B., Stadler, Zsofia Kinga, Latham, Alicia, Offit, Kenneth, Carlo, Maria Isabel, Coleman, Jonathan, Al-Ahmadie, Hikmat A.

Source: Journal of clinical oncology. 40(6 suppl):523-523

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100152996420.0x000001&indx=1&recIds=ETOCvdc_100152996420.0x000001

Expanded genetic testing of GIST patients identifies high proportion of non-syndromic patients with germline alterations.

Authors: Mandelker, Diana, Marra, Antonio, Mehta, Nikita, Selenica, Pier, Yelskaya, Zarina, Yang, Ciyu, Somar, Joshua, Mehine, Miika, Misyura, Maksym, Basturk, Olca, Latham, Alicia, Carlo, Maria, Walsh, Michael, Stadler, Zsofia K., Offit, Kenneth, Bandlamudi, Chaitanya, Hameed, Meera, Chi, Ping, Reis-Filho, Jorge S., Ceyhan-Birsoy, Ozge

Source: NPJ Precision Oncology; 1/2/2023, Vol. 7 Issue 1, p1-6, 6p

Subject Terms: GENETIC testing, GERM cells, GASTROINTESTINAL stromal tumors, RECESSIVE genes

Early age of onset and broad cancer spectrum persist in MSH6 and PMS2-associated Lynch syndrome.

Authors: Liu, Ying L, Cadoo, Karen Anne, Maio, Anna, Patel, Zalak, Kemel, Yelena, Salo-Mullen, Erin E., Catchings, Amanda, Ranganathan, Megha, Kane, Sarah R., Shia, Jinru, Soslow, Robert A., Birsoy, Ozge, Mandelker, Diana, Hechtman, Jaclyn Frances, Carlo, Maria Isabel, Walsh, Michael Francis, Markowitz, Arnold, Offit, Kenneth, Stadler, Zsofia Kinga, Latham, Alicia

Source: Journal of clinical oncology. 39(15 suppl):10516-10516

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100173100970.0x000001&indx=1&recIds=ETOCvdc_100173100970.0x000001

Disparities in pan-cancer patients undergoing germline cancer risk assessment by self-reported race/ethnicity and ancestry.

Authors: Liu, Ying L, Maio, Anna, Kemel, Yelena, Salo-Mullen, Erin E., Sheehan, Margaret, Tejada, Prince Rainier, Trottier, Magan, Harlan Fleischut, Megan, Latham, Alicia, Carlo, Maria Isabel, Walsh, Michael Francis, Robson, Mark E., Mandelker, Diana, Diaz, Luis A., Aghajanian, Carol, Brown, Carol L., Offit, Kenneth, Hamilton, Jada G., Stadler, Zsofia Kinga

Source: Journal of clinical oncology. 39(15 suppl):10508-10508

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100173100781.0x000001&indx=1&recIds=ETOCvdc_100173100781.0x000001