Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Rosalba, Sacca"'
Autor:
Suzanne C. O’Neill, Jada G. Hamilton, Claire C. Conley, Beth N. Peshkin, Rosalba Sacca, Glynnis A. McDonnell, Claudine Isaacs, Mark E. Robson, Kenneth P. Tercyak
Publikováno v:
Hereditary Cancer in Clinical Practice, Vol 19, Iss 1, Pp 1-9 (2021)
Abstract Consensus and evidence suggest that cascade testing is critical to achieve the promise of cancer genetic testing. However, barriers to cascade testing include effective family communication of genetic risk information and family members’ a
Externí odkaz:
https://doaj.org/article/178f79f699624308b90015fdbef6d7a2
Autor:
Emily Hasser, Beth N. Peshkin, Jada G. Hamilton, Jamie Brower, Hannah Ovadia, Lainie Friedman Ross, Rosalba Sacca, Beth Tarini, Susan M. Domchek, Sarah Vittone, Marcelo Sleiman, Claudine Isaacs, Sarah Knerr, Benjamin S. Wilfond, Kenneth P. Tercyak
Publikováno v:
Journal of Genetic Counseling.
Autor:
David B. Solit, Angela G. Arnold, Mark E. Robson, Diana Mandelker, Michael F. Berger, Shweta S. Chavan, Maksym Misyura, Michael Walsh, Anna Maio, Sarah R. Kane, Karen Cadoo, Yelena Kemel, Preethi Srinivasan, Ying Liu, Jinru Shia, Kenneth Offit, Kelsey Breen, Jennifer Kennedy, Margaret Sheehan, Semanti Mukherjee, Caitlin Bourque, Chaitanya Bandlamudi, Zalak Patel, Maria I. Carlo, Zsofia K. Stadler, Amanda Catchings, Erin E. Salo-Mullen, Arnold J. Markowitz, Barry S. Taylor, Prince Rainier Tejada, Rosalba Sacca, Vanessa Marcell, Alicia Latham, Ozge Ceyhan-Birsoy, Mark T.A. Donoghue, Kimberly Amoroso, Megha Ranganathan
Publikováno v:
JCO Precision Oncology. :455-465
PURPOSE NTHL1 and MSH3 have been implicated as autosomal recessive cancer predisposition genes. Although individuals with biallelic NTHL1 and MSH3 pathogenic variants (PVs) have increased cancer and polyposis risk, risks for monoallelic carriers are
Autor:
Whitney, Espinel, Marjan, Champine, Heather, Hampel, Joanne, Jeter, Kevin, Sweet, Robert, Pilarski, Rachel, Pearlman, Kate, Shane, Pamela, Brock, Judith A, Westman, Lindsay, Kipnis, Jilliane, Sotelo, Anu, Chittenden, Samantha, Culver, Jill E, Stopfer, Katherine A, Schneider, Rosalba, Sacca, Diane R, Koeller, Shraddha, Gaonkar, Erica, Vaccari, Sarah, Kane, Scott T, Michalski, Shan, Yang, Sarah M, Nielsen, Sara L, Bristow, Stephen E, Lincoln, Robert L, Nussbaum, Edward D, Esplin
Publikováno v:
Cancers. 14(10)
Consensus guidelines for hereditary breast and ovarian cancer include management recommendations for pathogenic/likely pathogenic (P/LP) variants in
Autor:
Erin E, Salo-Mullen, Anna, Maio, Semanti, Mukherjee, Chaitanya, Bandlamudi, Jinru, Shia, Yelena, Kemel, Karen A, Cadoo, Ying, Liu, Maria, Carlo, Megha, Ranganathan, Sarah, Kane, Preethi, Srinivasan, Shweta S, Chavan, Mark T A, Donoghue, Caitlin, Bourque, Margaret, Sheehan, Prince Rainier, Tejada, Zalak, Patel, Angela G, Arnold, Jennifer A, Kennedy, Kimberly, Amoroso, Kelsey, Breen, Amanda, Catchings, Rosalba, Sacca, Vanessa, Marcell, Arnold J, Markowitz, Alicia, Latham, Michael, Walsh, Maksym, Misyura, Ozge, Ceyhan-Birsoy, David B, Solit, Michael F, Berger, Mark E, Robson, Barry S, Taylor, Kenneth, Offit, Diana, Mandelker, Zsofia K, Stadler
Publikováno v:
JCO Precis Oncol
NTHL1 and MSH3 have been implicated as autosomal recessive cancer predisposition genes. Although individuals with biallelic NTHL1 and MSH3 pathogenic variants (PVs) have increased cancer and polyposis risk, risks for monoallelic carriers are uncertai
Autor:
Rosalba Sacca, Elaine H. Zackai, Karen B. Zur, Donna M. McDonald-McGinn, Kathleen D. Valverde, T. Blaine Crowley
Publikováno v:
International Journal of Pediatric Otorhinolaryngology. 96:11-14
Introduction 22q11.2 deletion syndrome (22q11.2DS) presents with complex but variable symptoms, including cardiac, immune, palatal, endocrine, cognitive, and psychiatric issues. However, an association of 22q11.2DS with structural airway abnormalitie
Autor:
Rosalba Sacca, Zsofia K. Stadler, Jennifer Kennedy, Alicia Latham, Kimberly Amoroso, Liying Zhang, Maria I. Carlo, Michael Walsh, Ozge Birsoy, Kenneth Offit, Temima Wildman, Diana Mandelker, Mark E. Robson, Yelena Kemel, Karen Cadoo, Zoe Steinsnyder
Publikováno v:
JCO Precision Oncology
Autor:
Rosalba Sacca, Holly LaDuca, Virginia Speare, Emily Schlosnagle, Judy Garber, Beth Overmoyer, Jill S. Dolinsky, Christine Drogan, Huma Q. Rana, Stephanie Gutierrez, Meredith M. Regan
Publikováno v:
Cancer.
Background Inflammatory breast cancer (IBC) is an uncommon and aggressive subtype of breast cancer associated with early disease recurrence and short survival. The prevalence of germline variants in cancer predisposition genes has not been systematic
Publikováno v:
Journal of genetic counseling. 28(3)
Transgender individuals comprise a growing patient population in genetic counseling practice. The identification of a pathogenic variant in a cancer susceptibility gene may impact a transgender person's decisions regarding hormonal and/or surgical tr
Autor:
Rachel Pearlman, Heather Hampel, Rosalba Sacca, Robert Pilarski, Katherine A. Schneider, Pamela Brock, Edward D. Esplin, Whitney Espinel, Diane R. Koeller, Kevin Sweet, Lindsay Kipnis, Anu Chittenden, Joanne M. Jeter, Marjan Champine, Jill Stopfer, Shraddha Gaonkar, Jilliane Sotelo, Kate P Shane-Carson, Judith A. Westman, Samantha Stickevers
Publikováno v:
Journal of Clinical Oncology. 36:e18705-e18705
e18705Background: Germline testing guidelines are centered on BRCA1 and BRCA2 despite clear medical management recommendations in several other high and moderate penetrance genes. Clinician utiliza...