Search Results - "Koeller, Diane"

Improving gender‐affirming care in genetic counseling: Using educational tools that amplify transgender and/or gender non‐binary community voices by Huser, Nicole, Hulswit, Bailey B., Koeller, Diane R., Yashar, Beverly M.

“…Transgender and/or gender non‐binary (TGNB) individuals face significant health care disparities, including deficiencies in provider knowledge. To address this…”
Get full text

Call for action: expanding global access to hereditary cancer genetic testing by Bychkovsky, Brittany, Rana, Huma Q, Ademuyiwa, Foluso, Plichta, Jennifer, Anderson, Karen, Nogueira-Rodrigues, Angélica, Santa-Maria, Cesar A, Coffman, Lan G, Marquez, Carol, Das, Arunangshu, Taghian, Alphonse, Koeller, Diane R, Sandoval, Renata L, Park, Ben Ho, Dizon, Don S

“…Since the discovery of hereditary cancer genes in the 1990s, guidelines for germline testing have evolved from testing patients with specific cancer subtypes,…”
Get full text

Transgender and gender-diverse (TGD) individuals’ perspectives on research seeking genetic variants associated with TGD identities: a qualitative study by Rajkovic, Antoine, Cirino, Allison L., Berro, Tala, Koeller, Diane R., Zayhowski, Kimberly

“…Recent genetic research has explored how genetic variants may contribute to gender dysphoria and transgender and gender-diverse (TGD) identities. When…”
Get full text

Cancer surveillance for transgender and gender diverse patients with Lynch syndrome: a practice resource of the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer by Hodan, Rachel, Rodgers-Fouche, Linda, Chittenden, Anu, Dominguez-Valentin, Mev, Ferriss, James, Gima, Lauren, Hamnvik, Ole-Petter R., Idos, Gregory E., Kline, Kevin, Koeller, Diane R., Long, Jessica M., McKenna, Danielle, Muller, Charles, Thoman, Maxton, Wintner, Anton, Bedrick, Bronwyn S.

“…Transgender and gender diverse (TGD) populations with hereditary cancer syndromes face unique obstacles to identifying and obtaining appropriate cancer…”
Get full text

Germline EGFR Mutations and Familial Lung Cancer by Oxnard, Geoffrey R, Chen, Ruthia, Pharr, Jennifer C, Koeller, Diane R, Bertram, Arrien A, Dahlberg, Suzanne E, Rainville, Irene, Shane-Carson, Kate, Taylor, Kelly A, Sable-Hunt, Alicia, Sholl, Lynette M, Teerlink, Craig C, Thomas, Alun, Cannon-Albright, Lisa A, Fay, André P, Ashton-Prolla, Patrícia, Yang, Hao, Salvatore, Mary M, Addario, Bonnie J, Jänne, Pasi A, Carbone, David P, Wiesner, Georgia L, Garber, Judy E

“…The genomic underpinnings of inherited lung cancer risk are poorly understood. This prospective study characterized the clinical phenotype of patients and…”
Get full text

Genetic counseling following direct‐to consumer genetic testing: Consumer perspectives by Marzulla, Tessa, Roberts, J. Scott, DeVries, Raymond, Koeller, Diane R., Green, Robert C., Uhlmann, Wendy R.

“…As the use and scope of direct‐to‐consumer genetic testing (DTC GT), also becoming known as consumer‐driven genetic testing, increases, consumers may seek…”
Get full text

Utilization of Genetic Counseling after Direct-to-Consumer Genetic Testing: Findings from the Impact of Personal Genomics (PGen) Study by Koeller, Diane R, Uhlmann, Wendy R, Carere, Deanna Alexis, Green, Robert C, Roberts, J Scott

“…Direct-to-consumer personal genomic testing (DTC-PGT) results lead some individuals to seek genetic counseling (GC), but little is known about these consumers…”
Get full text

Germline and Somatic Fumarate Hydratase Testing in Atypical Uterine Leiomyomata by Kipnis, Lindsay M, Breen, Katelyn M, Koeller, Diane R, Levine, Alison Schwartz, Yang, Zelei, Jun, Hyeji, Tayob, Nabihah, Stokes, Samantha M, Hayes, Connor P, Ghazani, Arezou A, Hill, Sarah J, Rana, Huma Q

“…Women with germline pathogenic variants (PV) in the fumarate hydratase (FH) gene develop cutaneous and uterine leiomyomata and have an increased risk of…”
Get more information

Learning from our patients: Utilizing the expertise of transgender and/or gender diverse educators to build an inclusive learning cycle by Ernst, Gabrielle, Huser, Nicole, Koeller, Diane R., Hulswit, Bailey, Bender‐Bernstein, Holden, Muir, Steve, Brogdon‐Soster, Emerson, Yashar, Beverly M.

Get full text

An integrated somatic and germline approach to aid interpretation of germline variants of uncertain significance in cancer susceptibility genes by Schwartz, Alison, Manning, Danielle K., Koeller, Diane R., Chittenden, Anu, Isidro, Raymond A., Hayes, Connor P., Abraamyan, Feruza, Manam, Monica Devi, Dwan, Meaghan, Barletta, Justine A., Sholl, Lynette M., Yurgelun, Matthew B., Rana, Huma Q., Garber, Judy E., Ghazani, Arezou A.

“…Genomic profiles of tumors are often unique and represent characteristic mutational signatures defined by DNA damage or DNA repair response processes. The…”
Get full text

Clinical Impact of Pathogenic Variants in DNA Damage Repair Genes beyond BRCA1 and BRCA2 in Breast and Ovarian Cancer Patients by Espinel, Whitney, Champine, Marjan, Hampel, Heather, Jeter, Joanne, Sweet, Kevin, Pilarski, Robert, Pearlman, Rachel, Shane, Kate, Brock, Pamela, Westman, Judith A, Kipnis, Lindsay, Sotelo, Jilliane, Chittenden, Anu, Culver, Samantha, Stopfer, Jill E, Schneider, Katherine A, Sacca, Rosalba, Koeller, Diane R, Gaonkar, Shraddha, Vaccari, Erica, Kane, Sarah, Michalski, Scott T, Yang, Shan, Nielsen, Sarah M, Bristow, Sara L, Lincoln, Stephen E, Nussbaum, Robert L, Esplin, Edward D

“…Consensus guidelines for hereditary breast and ovarian cancer include management recommendations for pathogenic/likely pathogenic (P/LP) variants in , , and…”
Get full text

Development and evaluation of INT2GRATE: a platform for comprehensive assessment of the role of germline variants informed by tumor signature profile in Lynch syndrome by Isidro, Raymond A., Chittenden, Anu, Walker, McKenzie, Schwartz, Alison, Koeller, Diane R., Hayes, Connor P., Unal, Busra, Manam, Monica Devi, Buehler, Ryan M., Manning, Danielle K., Sholl, Lynette M., Redston, Mark S., Yurgelun, Matthew B., Rana, Huma Q., Garber, Judy E., Ghazani, Arezou A.

“…The presence of variants of uncertain significance (VUS) in DNA mismatch repair (MMR) genes leads to uncertainty in the clinical management of patients being…”
Get full text

Pathogenicity of VHL variants in families with non-syndromic von Hippel-Lindau phenotypes: An integrated evaluation of germline and somatic genomic results by Rana, Huma Q., Koeller, Diane R., Schwartz, Alison, Manning, Danielle K., Schneider, Katherine A., Krajewski, Katherine M., Choueiri, Toni K., Lindeman, Neal I., Garber, Judy E., Ghazani, Arezou A.

“…Von Hippel-Lindau (VHL) syndrome is a hereditary tumor syndrome associated with germline loss-of-function pathogenic variants (PVs) in the VHL gene. VHL is…”
Get full text

Trans‐counseling: A case series of transgender individuals at high risk for BRCA1 pathogenic variants by Sacca, Rosalba E., Koeller, Diane R., Rana, Huma Q., Garber, Judy E., Morganstern, Daniel E.

“…Transgender individuals comprise a growing patient population in genetic counseling practice. The identification of a pathogenic variant in a cancer…”
Get full text

Assessment of genomic alterations in non-syndromic von Hippel-Lindau: Insight from integrating somatic and germline next generation sequencing genomic data by Manning, Danielle K., Shivdasani, Priyanka, Koeller, Diane R., Schwartz, Alison, Rana, Huma Q., Garber, Judy E., Lindeman, Neal I., Ghazani, Arezou A.

“…Von Hippel-Lindau (VHL) syndrome is a hereditary cancer genetic condition associated with inactivating pathogenic alterations in the VHL tumor suppressor gene…”
Get full text

Advancing Precision Oncology in Hereditary Paraganglioma-Pheochromocytoma Syndromes: Integrated Interpretation and Data Sharing of the Germline and Tumor Genomes by Rana, Huma Q, Koeller, Diane R, Walker, McKenzie, Unal, Busra, Levine, Alison Schwartz, Chittenden, Anu, Isidro, Raymond A, Hayes, Connor P, Manam, Monica D, Buehler, Ryan M, Manning, Danielle K, Barletta, Justine A, Hornick, Jason L, Garber, Judy E, Ghazani, Arezou A, Int Grate Oncology Consortium

“…Standard methods of variant assessment in hereditary cancer susceptibility genes are limited by the lack of availability of key supporting evidence. In cancer,…”
Get full text

Vulvar Melanoma in association with germline MITF p.E318K variant by Koeller, Diane R., Schwartz, Alison, DeSimone, Mia S., Rana, Huma Q., Rojas-Rudilla, Vanesa, Russell-Goldman, Eleanor, Laga, Alvaro C., Lindeman, Neal I., Garber, Judy E., Ghazani, Arezou A.

“…•Germline MITF p.E318K variant may be associated with vulvar melanoma.•MITF may be important in risk assessment and clinical management of non-cutaneous…”
Get full text

An optimized protocol for evaluating pathogenicity of VHL germline variants in patients suspected with von Hippel-Lindau syndrome: Using somatic genome to inform the role of germline variants by Koeller, Diane R., Manning, Danielle K., Schwartz, Alison, Chittenden, Anu, Hayes, Connor P., Abraamyan, Feruza, Rana, Huma Q., Lindeman, Neal I., Garber, Judy E., Ghazani, Arezou A.

“…The interpretation of hereditary genetic sequencing variants is often limited due to the absence of functional data and other key evidence to assess the role…”
Get full text

Novel Pathogenic Germline Variant of the Adenomatous Polyposis Coli (APC) Gene, p.S2627Gfs12 Identified in a Mild Phenotype of APC-Associated Polyposis: A Case Report by Koeller, Diane R, Schwartz, Alison, Manning, Danielle K, Dong, Fei, Lindeman, Neal I, Garber, Judy E, Ghazani, Arezou A

“…BACKGROUND The diagnoses of adenomatous polyposis coli (APC)-associated polyposis conditions are typically based on suggestive personal features and/or family…”
Get full text

Hereditary Lung Cancer Risk: Recent Discoveries and Implications for Genetic Counseling and Testing by Koeller, Diane R., Chen, Ruthia, Oxnard, Geoffrey R.

“…Purpose of Review Most lung cancer risk is attributed to environmental factors such as cigarette smoke. Family history also impacts lung cancer risk and as…”
Get full text