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6. ASO Visual Abstract: Integration of Universal Germline Genetic Testing for All New Breast Cancer Patients

Author

Culver, Julie O., Freiberg, Yael, Ricker, Charité, Comeaux, Jacob G., Chang, Emmeline Y., Banerjee, Victoria, Sturgeon, Duveen, Solomon, Ilana, Kagey, Josie, Dobre, Mariana G., Carey, Joseph, Carr, Azadeh, Cho, Stephanie, Lu, Janice, Kang, Irene M., Patel, Ketan, Terando, Alicia, Ye, Jason C., Li, Ming, Lerman, Caryn, Spicer, Darcy, and Nelson, Maria

Published
2023
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11. ASO Visual Abstract: Integration of Universal Germline Genetic Testing for All New Breast Cancer Patients

Author

Culver, Julie O., primary, Freiberg, Yael, additional, Ricker, Charité, additional, Comeaux, Jacob G., additional, Chang, Emmeline Y., additional, Banerjee, Victoria, additional, Sturgeon, Duveen, additional, Solomon, Ilana, additional, Kagey, Josie, additional, Dobre, Mariana G., additional, Carey, Joseph, additional, Carr, Azadeh, additional, Cho, Stephanie, additional, Lu, Janice, additional, Kang, Irene M., additional, Patel, Ketan, additional, Terando, Alicia, additional, Ye, Jason C., additional, Li, Ming, additional, Lerman, Caryn, additional, Spicer, Darcy, additional, and Nelson, Maria, additional

Published
2022
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13. Integration of Universal Germline Genetic Testing for All New Breast Cancer Patients

Author

Culver, Julie O., primary, Freiberg, Yael, additional, Ricker, Charité, additional, Comeaux, Jacob G., additional, Chang, Emmeline Y., additional, Banerjee, Victoria, additional, Sturgeon, Duveen, additional, Solomon, Ilana, additional, Kagey, Josie, additional, Dobre, Mariana G., additional, Carey, Joseph, additional, Carr, Azadeh, additional, Cho, Stephanie, additional, Lu, Janice, additional, Kang, Irene M., additional, Patel, Ketan, additional, Terando, Alicia, additional, Ye, Jason C., additional, Li, Ming, additional, Lerman, Caryn, additional, Spicer, Darcy, additional, and Nelson, Maria, additional

Published
2022
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17. Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study

Author

Kempers, Marlies JE, Kuiper, Roland P, Ockeloen, Charlotte W, Chappuis, Pierre O, Hutter, Pierre, Rahner, Nils, Schackert, Hans K, Steinke, Verena, Holinski-Feder, Elke, Morak, Monika, Kloor, Matthias, Büttner, Reinhard, Verwiel, Eugene TP, van Krieken, J Han, Nagtegaal, Iris D, Goossens, Monique, van der Post, Rachel S, Niessen, Renée C, Sijmons, Rolf H, Kluijt, Irma, Hogervorst, Frans BL, Leter, Edward M, Gille, Johan JP, Aalfs, Cora M, Redeker, Egbert JW, Hes, Frederik J, Tops, Carli MJ, van Nesselrooij, Bernadette PM, van Gijn, Marielle E, García, Encarna B Gómez, Eccles, Diana M, Bunyan, David J, Syngal, Sapna, Stoffel, Elena M, Culver, Julie O, Palomares, Melanie R, Graham, Tracy, Velsher, Lea, Papp, Janos, Oláh, Edith, Chan, Tsun L, Leung, Suet Y, van Kessel, Ad Geurts, Kiemeney, Lambertus ALM, Hoogerbrugge, Nicoline, and Ligtenberg, Marjolijn JL

Published
2011
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23. Limited family structure and BRCA gene mutation status in single cases of breast cancer

Author

Weitzel, Jeffrey N., Lagos, Veronica I., Cullinane, Carey A., Gambol, Patricia J., Culver, Julie O., Blazer, Kethleen R., Palomares, Melanie R., Lowstuter, Katrina J., and MacDonald, Deborah J.

Subjects
BRCA mutations -- Research, Family -- Health aspects, Family -- Research
Abstract

Studies are conducted to determine if BRCA gene mutations are more prevalent among single cases of early onset breast cancer in families with limited or adequate family structure. The results have shown that family structure can affect the accuracy of mutation probability models and hence genetic testing guidelines should be inclusive for single cases of breast cancer when the family structure is limited.

Published
2007

24. Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

Author

Yang, Xin, Leslie, Goska, Doroszuk, Alicja, Schneider, Sandra, Allen, Jamie, Decker, Brennan, Dunning, Alison M., Redman, James, Scarth, James, Plaskocinska, Inga, Luccarini, Craig, Shah, Mitul, Pooley, Karen, Dorling, Leila, Lee, Andrew, Adank, Muriel A., Adlard, Julian, Aittomaki, Kristiina, Andrulis, Irene L., Ang, Peter, Barwell, Julian, Bernstein, Jonine L., Bobolis, Kristie, Borg, Ake, Blomqvist, Carl, Claes, Kathleen B. M., Concannon, Patrick, Cuggia, Adeline, Culver, Julie O., Damiola, Francesca, de Pauw, Antoine, Diez, Orland, Dolinsky, Jill S., Domchek, Susan M., Engel, Christoph, Evans, D. Gareth, Fostira, Florentia, Garber, Judy, Golmard, Lisa, Goode, Ellen L., Gruber, Stephen B., Hahnen, Eric, Hake, Christopher, Heikkinen, Tuomas, Hurley, Judith E., Janavicius, Ramunas, Kleibl, Zdenek, Kleiblova, Petra, Konstantopoulou, Irene, Kvist, Anders, Laduca, Holly, Lee, Ann S. G., Lesueur, Fabienne, Maher, Eamonn R., Mannermaa, Arto, Manoukian, Siranoush, McFarland, Rachel, McKinnon, Wendy, Meindl, Alfons, Metcalfe, Kelly, Taib, Nur Aishah Mohd, Moilanen, Jukka, Nathanson, Katherine L., Neuhausen, Susan, Ng, Pei Sze, Nguyen-Dumont, Tu, Nielsen, Sarah M., Obermair, Florian, Offit, Kenneth, Olopade, Olufunmilayo, I, Ottini, Laura, Penkert, Judith, Pylkas, Katri, Radice, Paolo, Ramus, Susan J., Rudaitis, Vilius, Side, Lucy, Silva-Smith, Rachel, Silvestri, Valentina, Skytte, Anne-Bine, Slavin, Thomas, Soukupova, Jana, Tondini, Carlo, Trainer, Alison H., Unzeitig, Gary, Usha, Lydia, Hansen, Thomas van Overeem, Whitworth, James, Wood, Marie, Yip, Cheng Har, Yoon, Sook-Yee, Yussuf, Amal, Zogopoulos, George, Goldgar, David, Hopper, John L., Chenevix-Trench, Georgia, Pharoah, Paul, George, Sophia H. L., Balmana, Judith, Houdayer, Claude, James, Paul, El-Haffaf, Zaki, Ehrencrona, Hans, Janatova, Marketa, Peterlongo, Paolo, Nevanlinna, Heli, Schmutzler, Rita, Teo, Soo-Hwang, Robson, Mark, Pal, Tuya, Couch, Fergus, Weitzel, Jeffrey N., Elliott, Aaron, Southey, Melissa, Winqvist, Robert, Easton, Douglas F., Foulkes, William D., Antoniou, Antonis C., Tischkowitz, Marc, Yang, Xin, Leslie, Goska, Doroszuk, Alicja, Schneider, Sandra, Allen, Jamie, Decker, Brennan, Dunning, Alison M., Redman, James, Scarth, James, Plaskocinska, Inga, Luccarini, Craig, Shah, Mitul, Pooley, Karen, Dorling, Leila, Lee, Andrew, Adank, Muriel A., Adlard, Julian, Aittomaki, Kristiina, Andrulis, Irene L., Ang, Peter, Barwell, Julian, Bernstein, Jonine L., Bobolis, Kristie, Borg, Ake, Blomqvist, Carl, Claes, Kathleen B. M., Concannon, Patrick, Cuggia, Adeline, Culver, Julie O., Damiola, Francesca, de Pauw, Antoine, Diez, Orland, Dolinsky, Jill S., Domchek, Susan M., Engel, Christoph, Evans, D. Gareth, Fostira, Florentia, Garber, Judy, Golmard, Lisa, Goode, Ellen L., Gruber, Stephen B., Hahnen, Eric, Hake, Christopher, Heikkinen, Tuomas, Hurley, Judith E., Janavicius, Ramunas, Kleibl, Zdenek, Kleiblova, Petra, Konstantopoulou, Irene, Kvist, Anders, Laduca, Holly, Lee, Ann S. G., Lesueur, Fabienne, Maher, Eamonn R., Mannermaa, Arto, Manoukian, Siranoush, McFarland, Rachel, McKinnon, Wendy, Meindl, Alfons, Metcalfe, Kelly, Taib, Nur Aishah Mohd, Moilanen, Jukka, Nathanson, Katherine L., Neuhausen, Susan, Ng, Pei Sze, Nguyen-Dumont, Tu, Nielsen, Sarah M., Obermair, Florian, Offit, Kenneth, Olopade, Olufunmilayo, I, Ottini, Laura, Penkert, Judith, Pylkas, Katri, Radice, Paolo, Ramus, Susan J., Rudaitis, Vilius, Side, Lucy, Silva-Smith, Rachel, Silvestri, Valentina, Skytte, Anne-Bine, Slavin, Thomas, Soukupova, Jana, Tondini, Carlo, Trainer, Alison H., Unzeitig, Gary, Usha, Lydia, Hansen, Thomas van Overeem, Whitworth, James, Wood, Marie, Yip, Cheng Har, Yoon, Sook-Yee, Yussuf, Amal, Zogopoulos, George, Goldgar, David, Hopper, John L., Chenevix-Trench, Georgia, Pharoah, Paul, George, Sophia H. L., Balmana, Judith, Houdayer, Claude, James, Paul, El-Haffaf, Zaki, Ehrencrona, Hans, Janatova, Marketa, Peterlongo, Paolo, Nevanlinna, Heli, Schmutzler, Rita, Teo, Soo-Hwang, Robson, Mark, Pal, Tuya, Couch, Fergus, Weitzel, Jeffrey N., Elliott, Aaron, Southey, Melissa, Winqvist, Robert, Easton, Douglas F., Foulkes, William D., Antoniou, Antonis C., and Tischkowitz, Marc

Abstract

PURPOSE To estimate age-specific relative and absolute cancer risks of breast cancer and to estimate risks of ovarian, pancreatic, male breast, prostate, and colorectal cancers associated with germline PALB2 pathogenic variants (PVs) because these risks have not been extensively characterized. METHODS We analyzed data from 524 families with PALB2 PVs from 21 countries. Complex segregation analysis was used to estimate relative risks (RRs; relative to country-specific population incidences) and absolute risks of cancers. The models allowed for residual familial aggregation of breast and ovarian cancer and were adjusted for the family-specific ascertainment schemes. RESULTS We found associations between PALB2 PVs and risk of female breast cancer (RR, 7.18; 95% CI, 5.82 to 8.85; P = 6.5 x 10(-76)), ovarian cancer (RR, 2.91; 95% CI, 1.40 to 6.04; P = 4.1 x 10(-3)), pancreatic cancer (RR, 2.37; 95% CI, 1.24 to 4.50; P = 8.7 x 10(-3)), and male breast cancer (RR, 7.34; 95% CI, 1.28 to 42.18; P = 2.6 x 10(-2)). There was no evidence for increased risks of prostate or colorectal cancer. The breast cancer RRs declined with age (P for trend = 2.0 x 10(-3)). After adjusting for family ascertainment, breast cancer risk estimates on the basis of multiple case families were similar to the estimates from families ascertained through population-based studies (P for difference = .41). On the basis of the combined data, the estimated risks to age 80 years were 53% (95% CI, 44% to 63%) for female breast cancer, 5% (95% CI, 2% to 10%) for ovarian cancer, 2%-3% (95% CI females, 1% to 4%; 95% CI males, 2% to 5%) for pancreatic cancer, and 1% (95% CI, 0.2% to 5%) for male breast cancer. CONCLUSION These results confirm PALB2 as a major breast cancer susceptibility gene and establish substantial associations between germline PALB2 PVs and ovarian, pancreatic, and male breast cancers. These findings will facilitate incorporation of PALB2 into risk prediction models and optimize the clinical

Published
2020

25. Ovarian and Breast Cancer Risks Associated with Pathogenic Variants in RAD51C and RAD51D

Author

Yang, Xin, Song, Honglin, Leslie, Goska, Engel, Christoph, Hahnen, Eric, Auber, Bernd, Horváth, Judit, Kast, Karin, Niederacher, DIeter, Turnbull, Clare, Houlston, Richard, Hanson, Helen, Loveday, Chey, Dolinsky, Jill S., Laduca, Holly, Ramus, Susan J., Menon, Usha, Rosenthal, Adam N., Jacobs, Ian, Gayther, Simon A., DIcks, Ed, Nevanlinna, Heli, Aittomäki, Kristiina, Pelttari, Liisa M., Ehrencrona, Hans, Borg, Åke, Kvist, Anders, Rivera, Barbara, Hansen, Thomas V.O., Djursby, Malene, Lee, Andrew, Dennis, Joe, Bowtell, David D., Traficante, Nadia, DIez, Orland, Balmaña, Judith, Gruber, Stephen B., Chenevix-Trench, Georgia, Investigators, Kconfab, Jensen, Allan, Kjær, Susanne K., Høgdall, Estrid, Castéra, Laurent, Garber, Judy, Janavicius, Ramunas, Osorio, Ana, Golmard, Lisa, Vega, Ana, Couch, Fergus J., Robson, Mark, Gronwald, Jacek, Domchek, Susan M., Culver, Julie O., De La Hoya, Miguel, Easton, Douglas F., Foulkes, William D., Tischkowitz, Marc, Meindl, Alfons, Schmutzler, Rita K., Pharoah, Paul D.P., Antoniou, Antonis C., Yang, Xin, Song, Honglin, Leslie, Goska, Engel, Christoph, Hahnen, Eric, Auber, Bernd, Horváth, Judit, Kast, Karin, Niederacher, DIeter, Turnbull, Clare, Houlston, Richard, Hanson, Helen, Loveday, Chey, Dolinsky, Jill S., Laduca, Holly, Ramus, Susan J., Menon, Usha, Rosenthal, Adam N., Jacobs, Ian, Gayther, Simon A., DIcks, Ed, Nevanlinna, Heli, Aittomäki, Kristiina, Pelttari, Liisa M., Ehrencrona, Hans, Borg, Åke, Kvist, Anders, Rivera, Barbara, Hansen, Thomas V.O., Djursby, Malene, Lee, Andrew, Dennis, Joe, Bowtell, David D., Traficante, Nadia, DIez, Orland, Balmaña, Judith, Gruber, Stephen B., Chenevix-Trench, Georgia, Investigators, Kconfab, Jensen, Allan, Kjær, Susanne K., Høgdall, Estrid, Castéra, Laurent, Garber, Judy, Janavicius, Ramunas, Osorio, Ana, Golmard, Lisa, Vega, Ana, Couch, Fergus J., Robson, Mark, Gronwald, Jacek, Domchek, Susan M., Culver, Julie O., De La Hoya, Miguel, Easton, Douglas F., Foulkes, William D., Tischkowitz, Marc, Meindl, Alfons, Schmutzler, Rita K., Pharoah, Paul D.P., and Antoniou, Antonis C.

Abstract

Background: The purpose of this study was to estimate precise age-specific tubo-ovarian carcinoma (TOC) and breast cancer (BC) risks for carriers of pathogenic variants in RAD51C and RAD51D. Methods: We analyzed data from 6178 families, 125 with pathogenic variants in RAD51C, and 6690 families, 60 with pathogenic variants in RAD51D. TOC and BC relative and cumulative risks were estimated using complex segregation analysis to model the cancer inheritance patterns in families while adjusting for the mode of ascertainment of each family. All statistical tests were two-sided. Results: Pathogenic variants in both RAD51C and RAD51D were associated with TOC (RAD51C: relative risk [RR] = 7.55, 95% confidence interval [CI] = 5.60 to 10.19; P = 5 × 10-40; RAD51D: RR = 7.60, 95% CI = 5.61 to 10.30; P = 5 × 10-39) and BC (RAD51C: RR = 1.99, 95% CI = 1.39 to 2.85; P = 1.55 × 10-4; RAD51D: RR = 1.83, 95% CI = 1.24 to 2.72; P =. 002). For both RAD51C and RAD51D, there was a suggestion that the TOC relative risks increased with age until around age 60 years and decreased thereafter. The estimated cumulative risks of developing TOC to age 80 years were 11% (95% CI = 6% to 21%) for RAD51C and 13% (95% CI = 7% to 23%) for RAD51D pathogenic variant carriers. The estimated cumulative risks of developing BC to 80 years were 21% (95% CI = 15% to 29%) for RAD51C and 20% (95% CI = 14% to 28%) for RAD51D pathogenic variant carriers. Both TOC and BC risks for RAD51C and RAD51D pathogenic variant carriers varied by cancer family history and could be as high as 32-36% for TOC, for carriers with two first-degree relatives diagnosed with TOC, or 44-46% for BC, for carriers with two first-degree relatives diagnosed with BC. Conclusions: These estimates will facilitate the genetic counseling of RAD51C and RAD51D pathogenic variant carriers and justify the incorporation of RAD51C and RAD51D into cancer risk prediction models.

Published
2020

26. Genetic Cancer Risk Assessment and Counseling: Recommendations of the National Society of Genetic Counselors

Author

Trepanier, Angela, Ahrens, Mary, McKinnon, Wendy, Peters, June, Stopfer, Jill, Grumet, Sherry Campbell, Manley, Susan, Culver, Julie O., Acton, Ronald, Larsen-Haidle, Joy, Correia, Lori Ann, Bennett, Robin, Pettersen, Barbara, Ferlita, Terri Diamond, Costalas, Josephine Wagner, Hunt, Katherine, Donlon, Susan, Skrzynia, Cecile, Farrell, Carolyn, Callif-Daley, Faith, and Vockley, Catherine Walsh

Published
2004
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27. Psychosocial outcomes following germline multigene panel testing in an ethnically and economically diverse cohort of patients

Author

Culver, Julie O., primary, Ricker, Charité N., additional, Bonner, Joseph, additional, Kidd, John, additional, Sturgeon, Duveen, additional, Hodan, Rachel, additional, Kingham, Kerry, additional, Lowstuter, Katrina, additional, Chun, Nicolette M., additional, Lebensohn, Alexandra P., additional, Rowe‐Teeter, Courtney, additional, Levonian, Peter, additional, Partynski, Katlyn, additional, Lara‐Otero, Karlena, additional, Hong, Christine, additional, Morales Pichardo, Jennifer, additional, Mills, Meredith A., additional, Brown, Krystal, additional, Lerman, Caryn, additional, Ladabaum, Uri, additional, McDonnell, Kevin J., additional, Ford, James M., additional, Gruber, Stephen B., additional, Kurian, Allison W., additional, and Idos, Gregory E., additional

Published
2020
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28. Recurrence and variability of germline EPCAM deletions in Lynch syndrome

Author

Kuiper, Roland P., Vissers, Lisenka E.L.M., Venkatachalam, Ramprasath, Bodmer, Danielle, Hoenselaar, Eveline, Goossens, Monique, Haufe, Aline, Kamping, Eveline, Niessen, Renée C., Hogervorst, Frans B.L., Gille, Johan J.P., Redeker, Bert, Tops, Carli M.J., van Gijn, Marielle E., van den Ouweland, Ans M.W., Rahner, Nils, Steinke, Verena, Kahl, Philip, Holinski-Feder, Elke, Morak, Monika, Kloor, Matthias, Stemmler, Susanne, Betz, Beate, Hutter, Pierre, Bunyan, David J., Syngal, Sapna, Culver, Julie O., Graham, Tracy, Chan, Tsun L., Nagtegaal, Iris D., van Krieken, Han J. J.M, Schackert, Hans K., Hoogerbrugge, Nicoline, van Kessel, Ad Geurts, and Ligtenberg, Marjolijn J.L.

Published
2011
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29. Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

Author

Yang, Xin, primary, Leslie, Goska, additional, Doroszuk, Alicja, additional, Schneider, Sandra, additional, Allen, Jamie, additional, Decker, Brennan, additional, Dunning, Alison M., additional, Redman, James, additional, Scarth, James, additional, Plaskocinska, Inga, additional, Luccarini, Craig, additional, Shah, Mitul, additional, Pooley, Karen, additional, Dorling, Leila, additional, Lee, Andrew, additional, Adank, Muriel A., additional, Adlard, Julian, additional, Aittomäki, Kristiina, additional, Andrulis, Irene L., additional, Ang, Peter, additional, Barwell, Julian, additional, Bernstein, Jonine L., additional, Bobolis, Kristie, additional, Borg, Åke, additional, Blomqvist, Carl, additional, Claes, Kathleen B.M., additional, Concannon, Patrick, additional, Cuggia, Adeline, additional, Culver, Julie O., additional, Damiola, Francesca, additional, de Pauw, Antoine, additional, Diez, Orland, additional, Dolinsky, Jill S., additional, Domchek, Susan M., additional, Engel, Christoph, additional, Evans, D. Gareth, additional, Fostira, Florentia, additional, Garber, Judy, additional, Golmard, Lisa, additional, Goode, Ellen L., additional, Gruber, Stephen B., additional, Hahnen, Eric, additional, Hake, Christopher, additional, Heikkinen, Tuomas, additional, Hurley, Judith E., additional, Janavicius, Ramunas, additional, Kleibl, Zdenek, additional, Kleiblova, Petra, additional, Konstantopoulou, Irene, additional, Kvist, Anders, additional, Laduca, Holly, additional, Lee, Ann S.G., additional, Lesueur, Fabienne, additional, Maher, Eamonn R., additional, Mannermaa, Arto, additional, Manoukian, Siranoush, additional, McFarland, Rachel, additional, McKinnon, Wendy, additional, Meindl, Alfons, additional, Metcalfe, Kelly, additional, Mohd Taib, Nur Aishah, additional, Moilanen, Jukka, additional, Nathanson, Katherine L., additional, Neuhausen, Susan, additional, Ng, Pei Sze, additional, Nguyen-Dumont, Tu, additional, Nielsen, Sarah M., additional, Obermair, Florian, additional, Offit, Kenneth, additional, Olopade, Olufunmilayo I., additional, Ottini, Laura, additional, Penkert, Judith, additional, Pylkäs, Katri, additional, Radice, Paolo, additional, Ramus, Susan J., additional, Rudaitis, Vilius, additional, Side, Lucy, additional, Silva-Smith, Rachel, additional, Silvestri, Valentina, additional, Skytte, Anne-Bine, additional, Slavin, Thomas, additional, Soukupova, Jana, additional, Tondini, Carlo, additional, Trainer, Alison H., additional, Unzeitig, Gary, additional, Usha, Lydia, additional, van Overeem Hansen, Thomas, additional, Whitworth, James, additional, Wood, Marie, additional, Yip, Cheng Har, additional, Yoon, Sook-Yee, additional, Yussuf, Amal, additional, Zogopoulos, George, additional, Goldgar, David, additional, Hopper, John L., additional, Chenevix-Trench, Georgia, additional, Pharoah, Paul, additional, George, Sophia H.L., additional, Balmaña, Judith, additional, Houdayer, Claude, additional, James, Paul, additional, El-Haffaf, Zaki, additional, Ehrencrona, Hans, additional, Janatova, Marketa, additional, Peterlongo, Paolo, additional, Nevanlinna, Heli, additional, Schmutzler, Rita, additional, Teo, Soo-Hwang, additional, Robson, Mark, additional, Pal, Tuya, additional, Couch, Fergus, additional, Weitzel, Jeffrey N., additional, Elliott, Aaron, additional, Southey, Melissa, additional, Winqvist, Robert, additional, Easton, Douglas F., additional, Foulkes, William D., additional, Antoniou, Antonis C., additional, and Tischkowitz, Marc, additional

Published
2020
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30. Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D

Author

Yang, Xin, primary, Song, Honglin, additional, Leslie, Goska, additional, Engel, Christoph, additional, Hahnen, Eric, additional, Auber, Bernd, additional, Horváth, Judit, additional, Kast, Karin, additional, Niederacher, Dieter, additional, Turnbull, Clare, additional, Houlston, Richard, additional, Hanson, Helen, additional, Loveday, Chey, additional, Dolinsky, Jill S, additional, LaDuca, Holly, additional, Ramus, Susan J, additional, Menon, Usha, additional, Rosenthal, Adam N, additional, Jacobs, Ian, additional, Gayther, Simon A, additional, Dicks, Ed, additional, Nevanlinna, Heli, additional, Aittomäki, Kristiina, additional, Pelttari, Liisa M, additional, Ehrencrona, Hans, additional, Borg, Åke, additional, Kvist, Anders, additional, Rivera, Barbara, additional, Hansen, Thomas V O, additional, Djursby, Malene, additional, Lee, Andrew, additional, Dennis, Joe, additional, Bowtell, David D, additional, Traficante, Nadia, additional, Diez, Orland, additional, Balmaña, Judith, additional, Gruber, Stephen B, additional, Chenevix-Trench, Georgia, additional, Investigators, kConFab, additional, Jensen, Allan, additional, Kjær, Susanne K, additional, Høgdall, Estrid, additional, Castéra, Laurent, additional, Garber, Judy, additional, Janavicius, Ramunas, additional, Osorio, Ana, additional, Golmard, Lisa, additional, Vega, Ana, additional, Couch, Fergus J, additional, Robson, Mark, additional, Gronwald, Jacek, additional, Domchek, Susan M, additional, Culver, Julie O, additional, de la Hoya, Miguel, additional, Easton, Douglas F, additional, Foulkes, William D, additional, Tischkowitz, Marc, additional, Meindl, Alfons, additional, Schmutzler, Rita K, additional, Pharoah, Paul D P, additional, and Antoniou, Antonis C, additional

Published
2020
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31. Multicenter Prospective Cohort Study of the Diagnostic Yield and Patient Experience of Multiplex Gene Panel Testing For Hereditary Cancer Risk

Author

Idos, Gregory E., primary, Kurian, Allison W., additional, Ricker, Charité, additional, Sturgeon, Duveen, additional, Culver, Julie O., additional, Kingham, Kerry E., additional, Koff, Rachel, additional, Chun, Nicolette M., additional, Rowe-Teeter, Courtney, additional, Lebensohn, Alexandra P., additional, Levonian, Peter, additional, Lowstuter, Katrina, additional, Partynski, Katlyn, additional, Hong, Christine, additional, Mills, Meredith A., additional, Petrovchich, Iva, additional, Ma, Cindy S., additional, Hartman, Anne-Renee, additional, Allen, Brian, additional, Wenstrup, Richard J., additional, Lancaster, Johnathan M., additional, Brown, Krystal, additional, Kidd, John, additional, Evans, Brent, additional, Mukherjee, Bhramar, additional, McDonnell, Kevin J., additional, Ladabaum, Uri, additional, Ford, James M., additional, and Gruber, Stephen B., additional

Published
2019
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34. Psychosocial outcomes following germline multigene panel testing in an ethnically and economically diverse cohort of patients.

Author

Culver, Julie O., Ricker, Charité N., Bonner, Joseph, Kidd, John, Sturgeon, Duveen, Hodan, Rachel, Kingham, Kerry, Lowstuter, Katrina, Chun, Nicolette M., Lebensohn, Alexandra P., Rowe‐Teeter, Courtney, Levonian, Peter, Partynski, Katlyn, Lara‐Otero, Karlena, Hong, Christine, Morales Pichardo, Jennifer, Mills, Meredith A., Brown, Krystal, Lerman, Caryn, and Ladabaum, Uri

Subjects
*GENETIC counseling, *GERM cells, *HEREDITARY cancer syndromes, *SECONDARY education, *PSYCHOLOGICAL distress
Abstract

Background: Little is known about the psychological outcomes of germline multigene panel testing, particularly among diverse patients and those with moderate‐risk pathogenic variants (PVs). Methods: Study participants (N = 1264) were counseled and tested with a 25‐ or 28‐gene panel and completed a 3‐month postresult survey including the Multidimensional Impact of Cancer Risk Assessment (MICRA). Results: The mean age was 52 years, 80% were female, and 70% had cancer; 45% were non‐Hispanic White, 37% were Hispanic, 10% were Asian, 3% were Black, and 5% had another race/ethnicity. Approximately 28% had a high school education or less, and 23% were non–English‐speaking. The genetic test results were as follows: 7% had a high‐risk PV, 6% had a moderate‐risk PV, 35% had a variant of uncertain significance (VUS), and 52% were negative. Most participants (92%) had a total MICRA score ≤ 38, which corresponded to a mean response of "never," "rarely," or only "sometimes" reacting negatively to results. A multivariate analysis found that mean total MICRA scores were significantly higher (more uncertainty/distress) among high‐ and moderate‐risk PV carriers (29.7 and 24.8, respectively) than those with a VUS or negative results (17.4 and 16.1, respectively). Having cancer or less education was associated with a significantly higher total MICRA score; race/ethnicity was not associated with the total MICRA score. High‐ and moderate‐risk PV carriers did not differ significantly from one another in the total MICRA score, uncertainty, distress, or positive experiences. Conclusions: In a diverse population undergoing genetic counseling and multigene panel testing for hereditary cancer risk, the psychological response corresponded to test results and showed low distress and uncertainty. Further studies are needed to assess patient understanding and subsequent cancer screening among patients from diverse backgrounds. Lay Summary: Multigene panel tests for hereditary cancer have become widespread despite concerns about adverse psychological reactions among carriers of moderate‐risk pathogenic variants (mutations) and among carriers of variants of uncertain significance.This large study of an ethnically and economically diverse cohort of patients undergoing panel testing found that 92% "never," "rarely," or only "sometimes" reacted negatively to results.Somewhat higher uncertainty and distress were identified among carriers of high‐ and moderate‐risk pathogenic variants, and lower levels were identified among those with a variant of uncertain significance or a negative result.Although the psychological response corresponded to risk, reactions to testing were favorable, regardless of results. Multigene panel tests for hereditary cancer have become widespread despite concerns that carriers of moderate‐risk pathogenic variants or uncertain variants could have adverse psychological reactions. This large cohort study of patients undergoing panel testing has found that the psychological response is favorable, regardless of genetic test results. [ABSTRACT FROM AUTHOR]

Published
2021
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36. Prospective Study of Cancer Genetic Variants: Variation in Rate of Reclassification by Ancestry

Author

Slavin, Thomas P, primary, Van Tongeren, Lily R, additional, Behrendt, Carolyn E, additional, Solomon, Ilana, additional, Rybak, Christina, additional, Nehoray, Bita, additional, Kuzmich, Lili, additional, Niell-Swiller, Mariana, additional, Blazer, Kathleen R, additional, Tao, Shu, additional, Yang, Kai, additional, Culver, Julie O, additional, Sand, Sharon, additional, Castillo, Danielle, additional, Herzog, Josef, additional, Gray, Stacy W, additional, and Weitzel, Jeffrey N, additional

Published
2018
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37. Unexpected CDH1 Mutations Identified on Multigene Panels Pose Clinical Management Challenges

Author

Lowstuter, Katrina, primary, Espenschied, Carin R., additional, Sturgeon, Duveen, additional, Ricker, Charité, additional, Karam, Rachid, additional, LaDuca, Holly, additional, Culver, Julie O., additional, Dolinsky, Jill S., additional, Chao, Elizabeth, additional, Sturgeon, Julia, additional, Speare, Virginia, additional, Ma, Yanling, additional, Kingham, Kerry, additional, Melas, Marilena, additional, Idos, Gregory E., additional, McDonnell, Kevin J., additional, and Gruber, Stephen B., additional

Published
2017
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39. TP53 Testing and Li-Fraumeni Syndrome: Current Status of Clinical Applications and Future Directions

Author

Sorrell, April D., Espenschied, Carin R., Culver, Julie O., and Weitzel, Jeffrey N.

Subjects
Brain Neoplasms, Breast Neoplasms, Sarcoma, Genes, p53, Article, Adrenal Cortex Neoplasms, Pedigree, Li-Fraumeni Syndrome, Humans, Female, Genetic Testing, Tumor Suppressor Protein p53, neoplasms, Genetic Association Studies, Germ-Line Mutation
Abstract

Prevalent as an acquired abnormality in cancer, the role of tumor protein p53 (TP53) as a germline mutation continues to evolve. The clinical impact of a germline TP53 mutation is often dramatic and affects the full life course, with a propensity to develop rare tumors in childhood and multiple common cancers of unexpectedly early onset in adulthood. In this article, we review the clinical relevance of germline mutations in the TP53 tumor suppressor gene to current healthcare practice, including the optimal ways to identify patients with Li-Fraumeni syndrome (LFS), to recognize the core cancers associated with LFS, and to develop strategies for early detection of LFS-associated tumors. Several TP53-targeted approaches to improve outcomes in LFS patients are also reviewed. A case report is used to highlight special TP53 testing dilemmas and unique challenges associated with genetic testing decisions in the current age of rapidly advancing genomic technologies.

Published
2013

41. Conference Evaluation Survey

Author

Espenschied, Carin R., primary, MacDonald, Deborah J., additional, Culver, Julie O., additional, Sand, Sharon, additional, Hurley, Karen, additional, Banks, Kimberly C., additional, Weitzel, Jeffrey N., additional, and Blazer, Kathleen R., additional

Published
2012
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42. Conference Attendance Survey

Author

Espenschied, Carin R., primary, MacDonald, Deborah J., additional, Culver, Julie O., additional, Sand, Sharon, additional, Hurley, Karen, additional, Banks, Kimberly C., additional, Weitzel, Jeffrey N., additional, and Blazer, Kathleen R., additional

Published
2012
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43. Reflection Time Questionnaire

Author

Espenschied, Carin R., primary, MacDonald, Deborah J., additional, Culver, Julie O., additional, Sand, Sharon, additional, Hurley, Karen, additional, Banks, Kimberly C., additional, Weitzel, Jeffrey N., additional, and Blazer, Kathleen R., additional

Published
2012
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44. Essential Elements of Genetic Cancer Risk Assessment, Counseling, and Testing: Updated Recommendations of the National Society of Genetic Counselors

Author

Riley, Bronson D., primary, Culver, Julie O., additional, Skrzynia, Cécile, additional, Senter, Leigha A., additional, Peters, June A., additional, Costalas, Josephine W., additional, Callif‐Daley, Faith, additional, Grumet, Sherry C., additional, Hunt, Katherine S., additional, Nagy, Rebecca S., additional, McKinnon, Wendy C., additional, Petrucelli, Nancie M., additional, Bennett, Robin L., additional, and Trepanier, Angela M., additional

Published
2011
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46. Health literacy, numeracy, and interpretation of graphical breast cancer risk estimates

Author

Brown, Sandra M., primary, Culver, Julie O., additional, Osann, Kathryn E., additional, MacDonald, Deborah J., additional, Sand, Sharon, additional, Thornton, Andrea A., additional, Grant, Marcia, additional, Bowen, Deborah J., additional, Metcalfe, Kelly A., additional, Burke, Harry B., additional, Robson, Mark E., additional, Friedman, Susan, additional, and Weitzel, Jeffrey N., additional

Published
2011
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