Rosalba E. Sacca

Prevalence of Germline Pathogenic RET Variants in a Pan-Cancer Patient Population

Matilde Borio, Margaret Sheehan, Nora Katabi, Rosalba E. Sacca et autres

PURPOSE Germline likely pathogenic or pathogenic variants (LP/PV) in the RET proto-oncogene account for approximately 25% of medullary thyroid cancers (MTCs). Depending on the variant, individuals with RET LP/PV can have > 70% lifetime risk for MTC or C-cell hyperplasia, an MTC …

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Maternal Communication of BRCA Risk to Adolescent and Young Adult Children: Implications for Supportive Care Intervention

Muriel R. Statman, Marcelo M. Sleiman, Beth N. Peshkin, Jada G. Hamilton et autres

ABSTRACT Background High‐risk mothers undergoing BRCA testing must decide whether, when, and how to disclose hereditary cancer risk information to their adolescent and young adult (AYA) children. Aims This study explored maternal preferences/values and cognitive‐affective factors influencing these decisions during genetic counseling. …

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Parental Communication With their Children about Cancer Risk and DTC Cascade Genetic Testing: Implications for Genetic Education and Counseling

Marcelo M. Sleiman, Talia Zamir, Beth N. Peshkin, Jada G. Hamilton et autres

Cascade genetic testing for cancer risk can influence relatives' health outcomes, as they may benefit from risk reduction and screening. However, clinical guidelines discourage predictive genetic testing in childhood-including direct-to-consumer (DTC) testing. This study examined high-risk parents' preparation of their children (primarily …

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Pediatric DTC Genetic Testing for Adult-Onset Inherited Cancer Risk: The Perspectives of High-Risk Parents

Madison K. Kilbride, Beth N. Peshkin, Jada G. Hamilton, Jamie Brower et autres

INTRODUCTION: Despite guidelines discouraging pediatric genetic testing for adult-onset hereditary cancer risk, direct-to-consumer (DTC) companies make them available to children's parents. This study examined the perspectives of high-risk parents toward such testing. METHODS: Interviews were conducted with N = 30 parents (children …

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Rheumatic heart disease: an ongoing public health concern in vulnerable communities

Dylan Rajaratnam, S. Boddupalli, Rosalba E. Sacca, Ann P. Slattery et autres

Abstract Background Acute rheumatic fever (ARF) results from an autoimmune response triggered by group A streptococcus (GAS) infection (1). Severe or recurrent ARF episodes can cause permanent heart valve damage, leading to complications including heart failure, stroke, arrhythmias, carditis, and decompensation during …

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Prevalence and Clinical Implications of Mismatch Repair-Proficient Colorectal Cancer in Patients With Lynch Syndrome

Megha Ranganathan, Rosalba E. Sacca, Magan Trottier, Anna Maio et autres

PURPOSE Lynch syndrome (LS)–associated colorectal cancer (CRC) is characterized by mismatch repair-deficiency (MMR-D) and/or microsatellite instability (MSI). However, with increasing utilization of germline testing, MMR-proficient (MMR-P) and/or microsatellite stable (MSS) CRC has also been observed. We sought to characterize MMR-P/MSS CRC among …

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Measuring high‐risk parents' opinions about direct‐to‐consumer genetic testing for adult‐onset inherited cancer syndromes in their adolescent and young adult children

Emily Hasser, Beth N. Peshkin, Jada G. Hamilton, Jamie Brower et autres

Abstract Neither direct‐to‐consumer (DTC) genetic testing nor predictive genetic testing for adult‐onset conditions is recommended for minor children due to ethical concerns and low clinical utility. However, parents with pathogenic variants (PVs) in disease‐causing genes may be interested in pursuing genetic testing …

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Clinical Impact of Pathogenic Variants in DNA Damage Repair Genes beyond BRCA1 and BRCA2 in Breast and Ovarian Cancer Patients

Whitney Espinel, Marjan Champine, Heather Hampel, Joanne Jeter et autres

Consensus guidelines for hereditary breast and ovarian cancer include management recommendations for pathogenic/likely pathogenic (P/LP) variants in ATM, CHEK2, PALB2, and other DNA damage repair (DDR) genes beyond BRCA1 or BRCA2. We report on clinical management decisions across three academic medical centers …

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Improving our model of cascade testing for hereditary cancer risk by leveraging patient peer support: a concept report

Suzanne C. O’Neill, Jada G. Hamilton, Claire C. Conley, Beth N. Peshkin et autres

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' ability to cope with genetic risk. These barriers are …

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Prevalence and Characterization of Biallelic and Monoallelic NTHL1 and MSH3 Variant Carriers From a Pan-Cancer Patient Population

Erin E. Salo‐Mullen, Anna Maio, Semanti Mukherjee, Chaitanya Bandlamudi et autres

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 uncertain. We sought to assess the prevalence and …

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Pathogenic Loss-of-Function Germline TERT Mutations in Patients With Solid Tumors

Michael Francis Walsh, Rosalba E. Sacca, Temima Wildman, Kimberly A. Amoroso et autres

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Prevalence of germline variants in inflammatory breast cancer

Huma Q. Rana, Rosalba E. Sacca, Christine M. Drogan, Stephanie Gutierrez et autres

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 systematically evaluated in women with IBC. METHODS: Among …

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