Germline mutation

Robot-Assisted Cortical-Sparing Adrenalectomy in a Patient with Von Hippel-Lindau Disease and Bilateral Pheochromocytomas Separated by 9 Years

Jamii St. Julien, Douglas W. Ball, Richard Schulick

引用数: 46 • 2006

Sensitive and Specific KRAS Somatic Mutation Analysis on Whole-Genome Amplified DNA from Archival Tissues

Ronald van Eijk, Marjo van Puijenbroek, Amiet Chhatta, Nisha Gupta, Rolf H. A. M. Vossen, Esther H. Lips, Anne‐Marie Cleton-Jansen, Hans Morreau, Tom van Wezel

引用数: 35 • 2009

Complete Response of Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)-Associated Renal Cell Carcinoma to Pembrolizumab Immunotherapy: A Case Report

Tao Wang, Yan Huang, Xing Huang, Zheng Lv, Shuo Tian, Xin Ma, Xu Zhang

引用数: 21 • 2021

An improved high throughput heteroduplex mutation detection system for screeningBRCA2 mutations?fluorescent mutation detection (F-MD)

S M Edwards, Zsofia Kote‐Jarai, Rifat Hamoudi, Rosalind A. Eeles

引用数: 16 • 2001

Novel fumarate hydratase mutation in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer

Karen Wheeler, Dillon J. Warr, Sarah I. Warsetsky, Larry I. Barmat

引用数: 15 • 2015

Adult Proinsulinomatosis Associated With a MAFA Germline Mutation as a Rare Cause of Recurrent Hypoglycemia

引用数: 8 • 2021

Counselling Framework for Germline BRCA1/2 and PALB2 Carriers Considering Risk-Reducing Mastectomy

Stephanie M. Wong, Carla Apostolova, Elisheva Eisenberg, William D. Foulkes

引用数: 7 • 2024

Absence of somatic ATM missense mutations in 58 mammary carcinomas

Jinong Feng

引用数: 7 • 2003

Derivative Chromosome 3 Loss from t(3;6)(q12;q14) Followed by Differential<i>VHL</i>Mutations Underlie Multifocal ccRCC

Kosuke Mizutani, Shigeaki Yokoi, Seiya Sawada, Ippei Sakamoto, Koji Kameyama, Shingo Kamei, Kouseki Hirade, Seiji Sugiyama, Kengo Matsunaga, Tetsuya Yamada, Yasutaka Kato, Hiroshi Nishihara, Satoshi Ishihara, Takashi Deguchi

引用数: 6 • 2022

Update on Surgical Management of FAP

Tianqi Zhang, Ye Xu

引用数: 5 • 2023

BRCA2 mutations in familial breast cancer with prostate cancer: a case report and literature review

Zhengsheng Liu, Qianhao Huang, M Ding, Tao Wang, Yuedong Chen, Kaiyan Zhang

引用数: 3 • 2024

Serous Tubal Intraepithelial Carcinoma in a Japanese Woman with a Deleterious BRCA1 Mutation

Hiroshi Ishikawa, Takako Kiyokawa, Emi Utsuno, Kazuyuki Matsushita, Fumio Nomura, Makio Shozu

引用数: 3 • 2014

An unusual paraesophageal and diaphragmatic SDHA-deficient gastrointestinal stromal tumor (GIST) metastases case report

Martha E. Teke, Agnes Choi, Amber Leila Sarvestani, Andrew M. Blakely, Shamus R. Carr

引用数: 2 • 2023