Historical review of Lynch syndrome

Authors: Wolf, Andrew I., Buchanan, Adam H., Farkas, Linda M.

Source: Journal of Coloproctology (Rio de Janeiro). June 2013 33(2)

Subject Terms: Lynch syndrome, Hereditary nonpolyposis colorectal cancer, Colorectal cancer, Amsterdam criteria, Bethesda criteria, Microsatellite instability: MSI, Immunohistochemistry: IHC, Familial cancer, Muir-Torre syndrome, Turcot syndrome, Family X

File Description: text/html

Access URL: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2237-93632013000200095

The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation

Authors: Andersen, Erica F., Azzariti, Danielle R., Babb, Larry, Berg, Jonathan S., Biesecker, Leslie G., Bly, Zo, Buchanan, Adam H., DiStefano, Marina T., Gong, Li, Harrison, Steven M., Hunter, Jessica Ezzell, Kattman, Brandi, Klein, Teri E., Landrum, Melissa J., Manickam, Kandamurugu, Marroquin, Alessandra Serrano, Martin, Christa L., Milko, Laura V., Milosavljevic, Aleksandar, Morales, Joannella, Nelson, Tristan H., Plon, Sharon E., Powell, Bradford C., Ramos, Erin M., Rehm, Heidi L., Riggs, Erin R., Ritter, Deborah, Shah, Neethu, Thaxton, Courtney L., Thorland, Erik C., Weaver, Meredith A., Weller, Phillip L., Wright, Matt W.

Source: In Genetics in Medicine January 2025 27(1)

Families’ experiences of receiving adult- and pediatric-onset genetic results

Authors: Goehringer, Jessica ^{1, 5, ∗}, Leitzel, Tracey ¹, Kunnmann, Muki ¹, Floyd, Alyson E. ¹, O’Dell, Sean ^{2, 3}, Mozersky, Jessica ⁴, Rahm, Alanna Kulchak ¹, Buchanan, Adam H. ¹

Source: In Human Genetics and Genomics Advances 10 April 2025 6(2)

Measuring perceived utility of genomic sequencing: Development and validation of the GENEtic Utility (GENE-U) scale for adult screening

Authors: Smith, Hadley Stevens, Rubanovich, Caryn Kseniya, Robinson, Jill Oliver, Levchenko, Ariel N., Classen, Sarah A., Malek, Janet, Buchanan, Adam H., Biesecker, Barbara, Brothers, Kyle B., Wilfond, Benjamin S., Rini, Christine, Bloss, Cinnamon S., McGuire, Amy L., Knight, Sara J.

Source: In Genetics in Medicine November 2024 26(11)

Implementing evidence-based assertions of clinical actionability in the context of secondary findings: Updates from the ClinGen Actionability Working Group

Authors: Pak, Christine M., Gilmore, Marian J., Bulkley, Joanna E., Chakraborty, Pranesh, Dagan-Rosenfeld, Orit, Foreman, Ann Katherine M., Gollob, Michael H., Jenkins, Charisma L., Katz, Alexander E., Lee, Kristy, Meeks, Naomi, O’Daniel, Julianne M., Posey, Jennifer E., Rego, Shannon M., Shah, Neethu, Steiner, Robert D., Stergachis, Andrew B., Subramanian, Sai Lakshmi, Trotter, Tracy, Wallace, Kathleen, Williams, Marc S., Goddard, Katrina A.B., Buchanan, Adam H., Manickam, Kandamurugu, Powell, Bradford, Ezzell Hunter, Jessica

Source: In Genetics in Medicine August 2024 26(8)

Low adenoma burden in unselected patients with a pathogenic APC variant

Authors: Schwiter, Rachel, Rocha, Heather, Johns, Alicia, Savatt, Juliann M., Diehl, David L., Kelly, Melissa A., Williams, Marc S., Buchanan, Adam H.

Source: In Genetics in Medicine December 2023 25(12)

ClinGen’s Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescents

Authors: Hunter, Jessica Ezzell, Jenkins, Charisma L., Bulkley, Joanna E., Gilmore, Marian J., Lee, Kristy, Pak, Christine M., Wallace, Kathleen E., Buchanan, Adam H., Foreman, Ann Katherine M., Freed, Amanda S., Goehringer, Scott, Manickam, Kandamurugu, Meeks, Naomi J.L., Ramos, Erin M., Shah, Neethu, Steiner, Robert D., Subramanian, Sai Lakshmi, Trotter, Tracy, Webber, Elizabeth M., Williams, Marc S., Goddard, Katrina A.B., Powell, Bradford C.

Source: In Genetics in Medicine June 2022 24(6):1328-1335

Uncertainty management for individuals with Lynch Syndrome: Identifying and responding to healthcare barriers

Authors: Campbell-Salome, Gemme, Buchanan, Adam H., Hallquist, Miranda L.G., Rahm, Alanna K., Rocha, Heather, Sturm, Amy C.

Source: Patient education and counseling. 104(2):403-412

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100134424392.0x000001&indx=1&recIds=ETOCvdc_100134424392.0x000001

Genetic counseling for patients with positive genomic screening results: Considerations for when the genetic test comes first

Authors: Schwartz, Marci L. B., Buchanan, Adam H., Hallquist, Miranda L. G., Haggerty, Christopher M., Sturm, Amy C.

Source: Journal of genetic counseling. 30(3):634-644

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100122859552.0x000001&indx=1&recIds=ETOCvdc_100122859552.0x000001

Pre-malignant conditions diagnosed following a positive cancer signal from a multi-cancer early detection test.

Authors: Choudhry, Omair A., Kharge, Angana B., Rego, Seema P., Elias, Paul Z., Buchanan, Adam H., Lennon, Anne Marie, Papadopoulos, Nickolas, Diehl, Frank, Beer, Tomasz M.

Source: Frontiers in Oncology; 2024, p1-6, 6p

Subject Terms: POSITRON emission tomography computed tomography, ELECTRONIC health records, PRECANCEROUS conditions, BLOOD collection, BLOOD testing, CYSTADENOMA

Clinical outcomes of a genomic screening program for actionable genetic conditions

Authors: Buchanan, Adam H., Lester Kirchner, H., Schwartz, Marci L.B., Kelly, Melissa A., Schmidlen, Tara, Jones, Laney K., Hallquist, Miranda L.G., Rocha, Heather, Betts, Megan, Schwiter, Rachel, Butry, Loren, Lazzeri, Amanda L., Frisbie, Lauren R., Rahm, Alanna Kulchak, Hao, Jing, Willard, Huntington F., Martin, Christa L., Ledbetter, David H., Williams, Marc S., Sturm, Amy C.

Source: In Genetics in Medicine November 2020 22(11):1874-1882

Positive impact of genetic counseling assistants on genetic counseling efficiency, patient volume, and cost in a cancer genetics clinic

Authors: Hallquist, Miranda L.G., Tricou, Eric P., Hallquist, Michael N., Savatt, Juliann M., Rocha, Heather, Evans, Alyson E., Deckard, Nicole, Hu, Yirui, Kirchner, H. Lester, Pervola, Josie, Rahm, Alanna Kulchak, Rashkin, Misha, Schmidlen, Tara J., Schwartz, Marci L.B., Williams, Janet L., Williams, Marc S., Buchanan, Adam H.

Source: In Genetics in Medicine August 2020 22(8):1348-1354

Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background

Authors: Ormond, Kelly E., Hallquist, Miranda L.G., Buchanan, Adam H., Dondanville, Danielle, Cho, Mildred K., Smith, Maureen, Roche, Myra, Brothers, Kyle B., Coughlin, Curtis R., II, Hercher, Laura, Hudgins, Louanne, Jamal, Seema, Levy, Howard P., Raskin, Misha, Stosic, Melissa, Uhlmann, Wendy, Wain, Karen E., Currey, Erin, Faucett, W. Andrew

Source: In Genetics in Medicine March 2019 21(3):727-735

Implementation, adoption, and utility of family health history risk assessment in diverse care settings: evaluating implementation processes and impact with an implementation framework

Authors: Wu, R. Ryanne, Myers, Rachel A., Sperber, Nina, Voils, Corrine I, Neuner, Joan, McCarty, Catherine A., Haller, Irina V., Harry, Melissa, Fulda, Kimberly G, Cross, Deanna, Dimmock, David, Rakhra-Burris, Teji, Buchanan, Adam H., Ginsburg, Geoffrey S, Orlando, Lori A

Source: In Genetics in Medicine February 2019 21(2):331-338

A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort

Authors: Schwartz, Marci L.B., McCormick, Cara Zayac, Lazzeri, Amanda L., Lindbuchler, D’Andra M., Hallquist, Miranda L.G., Manickam, Kandamurugu, Buchanan, Adam H., Rahm, Alanna Kulchak, Giovanni, Monica A., Frisbie, Lauren, Flansburg, Carroll N., Davis, F. Daniel, Sturm, Amy C., Nicastro, Christine, Lebo, Matthew S., Mason-Suares, Heather, Mahanta, Lisa Marie, Carey, David J., Williams, Janet L., Williams, Marc S., Ledbetter, David H., Faucett, W. Andrew, Murray, Michael F.

Source: In The American Journal of Human Genetics 6 September 2018 103(3):328-337

Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants

Authors: Buchanan, Adam H., Manickam, Kandamurugu, Meyer, Michelle N., Wagner, Jennifer K., Hallquist, Miranda L.G., Williams, Janet L., Rahm, Alanna Kulchak, Williams, Marc S., Chen, Zong-Ming E., Shah, Chaitali K., Garg, Tullika K., Lazzeri, Amanda L., Schwartz, Marci L.B., Lindbuchler, D'Andra M., Fan, Audrey L., Leeming, Rosemary, Servano, Pedro O., III, Smith, Ashlee L., Vogel, Victor G., Abul-Husn, Noura S., Dewey, Frederick E., Lebo, Matthew S., Mason-Suares, Heather M., Ritchie, Marylyn D., Davis, F. Daniel, Carey, David J., Feinberg, David T., Faucett, W. Andrew, Ledbetter, David H., Murray, Michael F.

Source: In Genetics in Medicine May 2018 20(5):554-558

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource

Authors: Strande, Natasha T., Riggs, Erin Rooney, Buchanan, Adam H., Ceyhan-Birsoy, Ozge, DiStefano, Marina, Dwight, Selina S., Goldstein, Jenny, Ghosh, Rajarshi, Seifert, Bryce A., Sneddon, Tam P., Wright, Matt W., Milko, Laura V., Cherry, J. Michael, Giovanni, Monica A., Murray, Michael F., O’Daniel, Julianne M., Ramos, Erin M., Santani, Avni B., Scott, Alan F., Plon, Sharon E., Rehm, Heidi L., Martin, Christa L., Berg, Jonathan S.

Source: In The American Journal of Human Genetics 1 June 2017 100(6):895-906

A New Agenda for Implementing Population Genomic Screening.

Authors: Buchanan, Adam H.¹ (AUTHOR) ahbuchanan@geisinger.edu, Kulchak Rahm, Alanna¹ (AUTHOR), Sturm, Amy C.^1,2 (AUTHOR)

Source: Public Health Genomics. Jun2024, Vol. 27 Issue 1, p96-99. 4p.

Subject Terms: *MEDICAL screening, *CLINICAL decision support systems, *EMPLOYEE ownership

Patient-Centered Precision Health In A Learning Health Care System: Geisinger's Genomic Medicine Experience

Authors: Williams, Marc S., Buchanan, Adam H., Davis, F. Daniel, Faucett, W. Andrew, Hallquist, Miranda L. G., Leader, Joseph B., Martin, Christa L., McCormick, Cara Z.

Source: Health affairs. 37(5):757-764

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN615761653&indx=1&recIds=ETOCRN615761653

Evidence‐based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group

Authors: Webber, Elizabeth M., Hunter, Jessica Ezzell, Biesecker, Leslie G., Buchanan, Adam H., Clarke, Elizabeth V., Currey, Erin, Dagan‐Rosenfeld, Orit, Lee, Kristy, Lindor, Noralane M., Martin, Christa Lese, Milosavljevic, Aleksandar, Mittendorf, Kathleen F., Muessig, Kristin R., O'Daniel, Julianne M., Patel, Ronak Y., Ramos, Erin M., Rego, Shannon, Slavotinek, Anne M., Sobriera, Nara Lygia M., Weaver, Meredith A., Williams, Marc S., Evans, James P., Goddard, Katrina A. B.

Source: Human mutation. 39(11):1677-1685

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100089398727.0x000001&indx=1&recIds=ETOCvdc_100089398727.0x000001