J
Julie S. Mak
Researcher at University of California, San Francisco
Publications - 7
Citations - 801
Julie S. Mak is an academic researcher from University of California, San Francisco. The author has contributed to research in topics: Medicine & Genetic testing. The author has an hindex of 2, co-authored 2 publications receiving 333 citations.
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Journal ArticleDOI
Genetic/familial high-risk assessment: Breast, ovarian, and pancreatic, version 2.2021
Mary B. Daly,Tuya Pal,Michael Berry,Saundra S. Buys,Patricia I. Dickson,Susan M. Domchek,Ahmed Elkhanany,Susan Hatters Friedman,Michael Goggins,Mollie L. Hutton,Beth Y. Karlan,Seema A. Khan,Catherine Klein,Wendy Kohlmann,Allison W. Kurian,Christine Laronga,Jennifer K. Litton,Julie S. Mak,Carolyn S. Menendez,Sofia D. Merajver,Barbara S. Norquist,Kenneth Offit,Holly J. Pederson,Gwen Reiser,Leigha Senter-Jamieson,Kristen M. Shannon,Rebecca Shatsky,Kala Visvanathan,Jeffrey N. Weitzel,Myra J. Wick,Kari B. Wisinski,Matthew B. Yurgelun,Susan Darlow,Mary A. Dwyer +33 more
TL;DR: The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic focus primarily on assessment of pathogenic or likely pathogenic variants associated with increased risk of breast, ovarian, and pancreatic cancer and recommended approaches to genetic testing/counseling and management strategies as mentioned in this paper.
Journal ArticleDOI
NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020.
Mary B. Daly,Robert Pilarski,Matthew B. Yurgelun,Michael Berry,Saundra S. Buys,Patricia I. Dickson,Susan M. Domchek,Ahmed Elkhanany,Susan Hatters Friedman,Judy Garber,Michael Goggins,Mollie L. Hutton,Seema A. Khan,Catherine Klein,Wendy Kohlmann,Allison W. Kurian,Christine Laronga,Jennifer K. Litton,Julie S. Mak,Carolyn S. Menendez,Sofia D. Merajver,Barbara S. Norquist,Kenneth Offit,Tuya Pal,Holly J. Pederson,Gwen Reiser,Kristen M. Shannon,Kala Visvanathan,Jeffrey N. Weitzel,Myra J. Wick,Kari B. Wisinski,Mary A. Dwyer,Susan Darlow +32 more
TL;DR: These NCCN Guidelines Insights summarize the panel's discussion and most recent recommendations regarding criteria for high-penetrance genes associated with breast and ovarian cancer beyond BRCA1/2, pancreas screening and genesassociated with pancreatic cancer, genetic testing for the purpose of systemic therapy decision-making, and testing for people with Ashkenazi Jewish ancestry.
Journal ArticleDOI
An exploration in pitfalls in interpreting SDHB immunohistochemistry
Chien-Kuang Cornelia Ding,Salina B. Chan,Julie S. Mak,Sarah E. Umetsu,Jeffry P. Simko,Roberto Ruiz-Cordero,Tara A. Saunders,Emily Chan +7 more
TL;DR: This work characterise in detail aberrant SDHB‐IHC staining patterns in SDH‐deficient tumours, a diagnostic pitfall complicating interpretation.
Journal ArticleDOI
Hereditary vs Sporadic Invasive Lobular Carcinoma and Impact of Locoregional Therapy on Disease-Free Survival
TL;DR: In this article , the authors evaluated an institutional cohort of patients with early stage invasive lobular carcinoma (ILC) who underwent gene panel testing and determined the frequency and type of pathogenic variants.
Journal ArticleDOI
Changes in Bone Density in Carriers of BRCA1 and BRCA2 Pathogenic Variants After Salpingo-Oophorectomy
Lee-may Chen,Mindy Goldman,Julie S. Mak,Douglas C. Bauer,W. John Boscardin,Michael Schembri,Victoria L. Bae-Jump,Sue J. Friedman,Vanessa L. Jacoby +8 more
TL;DR: In this article , the authors evaluated the effect of risk-reducing salpingo-oophorectomy (RRSO) on change in bone mineral density (BMD) in women aged 34-50 years with pathogenic variants in BRCA1/2.