Cancer Research and Treatment

Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand

Chalermkiat Kansuttiviwat, Pongtawat Lertwilaiwittaya, Ekkapong Roothumnong, Panee Nakthong, Peerawat Dungort, Chutima Meesamarnpong, Warisara Tansa-Nga, Khontawan Pongsuktavorn, Supakit Wiboonthanasarn, Warunya Tititumjariya, Nannipa Phuphuripan, Chittap

The expression and mutation of BRCA1/2 genes in ovarian cancer: a global systematic study

Dinh-Toi Chu, Mai Vu Ngoc Suong, Hue Vu Thi, Thuy-Duong Vu, Manh-Hung Nguyen, Vijai Singh

Expert Review of Molecular Diagnostics.2023; 23(1): 53. CrossRef

Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2

Risk-Reducing Breast and Gynecological Surgery for BRCA Mutation Carriers: A Narrative Review

Serena Bertozzi, Ambrogio Londero, Anjeza Xholli, Guglielmo Azioni, Roberta Di Vora, Michele Paudice, Ines Bucimazza, Carla Cedolini, Angelo Cagnacci

Journal of Clinical Medicine.2023; 12(4): 1422. CrossRef

Deregulated Metabolic Pathways in Ovarian Cancer: Cause and Consequence

Roopak Murali, Vaishnavi Balasubramaniam, Satish Srinivas, Sandhya Sundaram, Ganesh Venkatraman, Sudha Warrier, Arun Dharmarajan, Rajesh Kumar Gandhirajan

Factors predictingBRCA1/2pathogenic variants in patients with ovarian cancer: a systematic review with meta-analysis

Giovanni Innella, Lea Godino, Giulia Erini, Antonio De Leo, Donatella Santini, Anna Myriam Perrone, Pierandrea De Iaco, Claudio Zamagni, Daniela Turchetti

Journal of Clinical Pathology.2023; 76(8): 510. CrossRef

Partner and localizer of BRCA2 (PALB2) pathogenic variants and ovarian cancer: A systematic review and meta-analysis.

Priyanka Narayan, Muhammad Danyal Ahsan, Emily M. Webster, Luiza Perez, Sarah R. Levi, Benedict Harvey, Isabel Wolfe, Shanice Beaumont, Jesse T. Brewer, Drew Siegel, Charlene Thomas, Paul Christos, Andy Hickner, Eloise Chapman-Davis, Evelyn Cantillo, Kevi

Early-Onset Ovarian Cancer <30 Years: What Do We Know about Its Genetic Predisposition?

Klara Horackova, Marketa Janatova, Petra Kleiblova, Zdenek Kleibl, Jana Soukupova

International Journal of Molecular Sciences.2023; 24(23): 17020. CrossRef

Effect of risk-reducing salpingo-oophorectomy on sex steroid hormone serum levels among postmenopausal women: an NRG Oncology/Gynecologic Oncology Group study

Phuong L. Mai, Austin Miller, Amanda Black, Roni T. Falk, John F. Boggess, Katherine Tucker, Ashley R. Stuckey, Gustavo C. Rodriguez, Cheung Wong, Thomas T. Amatruda, Kelly J. Wilkinson, Susan C. Modesitt, S. Diane Yamada, Kristin L. Bixel, Gretchen E. Gl

American Journal of Obstetrics and Gynecology.2022; 227(1): 61.e1. CrossRef

Hereditary gynecologic tumors and precision cancer medicine

Chikako Ogawa, Akira Hirasawa, Naoyuki Ida, Keiichiro Nakamura, Hisashi Masuyama

Journal of Obstetrics and Gynaecology Research.2022; 48(5): 1076. CrossRef

Discovery of BRCA1/BRCA2 founder variants by haplotype analysis

Won Kyung Kwon, Hyeok-Jae Jang, Jeong Eon Lee, Yeon Hee Park, Jai Min Ryu, Jonghan Yu, Ja-Hyun Jang, Jong-Won Kim

Epithelial Ovarian Cancer: Providing Evidence of Predisposition Genes

Sidrah Shah, Alison Cheung, Mikolaj Kutka, Matin Sheriff, Stergios Boussios

International Journal of Environmental Research and Public Health.2022; 19(13): 8113. CrossRef

Germline multigene panel testing revealed a BRCA2 pathogenic variant in a patient with suspected Lynch syndrome

Tomoko Yoshihama, Akira Hirasawa, Kokichi Sugano, Teruhiko Yoshida, Mineko Ushiama, Arisa Ueki, Tomoko Akahane, Yoshiko Nanki, Kensuke Sakai, Takeshi Makabe, Wataru Yamagami, Nobuyuki Susumu, Kaori Kameyama, Kenjiro Kosaki, Daisuke Aoki

International Cancer Conference Journal.2021; 10(1): 6. CrossRef

Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers

Yoon Young Choi, Su-Jin Shin, Jae Eun Lee, Lisa Madlensky, Seung-Tae Lee, Ji Soo Park, Jeong-Hyeon Jo, Hyunki Kim, Daniela Nachmanson, Xiaojun Xu, Sung Hoon Noh, Jae-Ho Cheong, Olivier Harismendy

Retroperitoneal leiomyosarcoma in a female patient with a germline splicing variant RAD51D c.904-2A > T: a case report

Mashu Futagawa, Hideki Yamamoto, Mariko Kochi, Yusaku Urakawa, Reimi Sogawa, Fumino Kato, Mika Okazawa-Sakai, Daisuke Ennishi, Katsunori Shinozaki, Hirofumi Inoue, Hiroyuki Yanai, Akira Hirasawa

Hereditary Cancer in Clinical Practice.2021;[Epub] CrossRef

A dominant RAD51C pathogenic splicing variant predisposes to breast and ovarian cancer in the Newfoundland population due to founder effect

Lesa M. Dawson, Kerri N. Smith, Salem Werdyani, Robyn Ndikumana, Cindy Penney, Louisa L. Wiede, Kendra L. Smith, Justin A. Pater, Andrée MacMillan, Jane Green, Sheila Drover, Terry‐Lynn Young, Darren D. O’Rielly

Molecular Genetics & Genomic Medicine.2020;[Epub] CrossRef

Germline and Somatic BRCA1/2 Mutations in 172 Chinese Women With Epithelial Ovarian Cancer

Yan You, Lei Li, Junliang Lu, Huanwen Wu, Jing Wang, Jie Gao, Ming Wu, Zhiyong Liang

BRIP1, RAD51C, and RAD51D mutations are associated with high susceptibility to ovarian cancer: mutation prevalence and precise risk estimates based on a pooled analysis of ~30,000 cases

Malwina Suszynska, Magdalena Ratajska, Piotr Kozlowski

Summary of BARD1 Mutations and Precise Estimation of Breast and Ovarian Cancer Risks Associated with the Mutations

Exon splicing analysis of intronic variants in multigene cancer panel testing for hereditary breast/ovarian cancer

Jin‐Sun Ryu, Hye‐Young Lee, Eun Hae Cho, Kyong‐Ah Yoon, Min‐Kyeong Kim, Jungnam Joo, Eun‐Sook Lee, Han‐Sung Kang, Seeyoun Lee, Dong Ock Lee, Myong Cheol Lim, Sun‐Young Kong

RAD51C and RAD51D in the hereditary breast and ovarian cancer syndrome

Ana Isabel Sánchez Bermúdez, M.ª Desamparados Sarabia Meseguer, Verónica Guardiola Castillo, Francisco Ruiz Espejo, José Antonio Noguera Velasco

Revista de Medicina de Laboratorio.2020;[Epub] CrossRef

Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes

Jonas Henn, Isabel Spier, Ronja S. Adam, Stefanie Holzapfel, Siegfried Uhlhaas, Katrin Kayser, Guido Plotz, Sophia Peters, Stefan Aretz

Hereditary Cancer in Clinical Practice.2019;[Epub] CrossRef

Large-scale meta-analysis of mutations identified in panels of breast/ovarian cancer-related genes — Providing evidence of cancer predisposition genes

Malwina Suszynska, Katarzyna Klonowska, Anna J. Jasinska, Piotr Kozlowski

Targeted sequencing of a specific gene panel detects a high frequency of ARID1A and PIK3CA mutations in ovarian clear cell carcinoma

Yu-Fa Su, Eing-Mei Tsai, Chih-Chieh Chen, Chun-Chieh Wu, Tze-Kiong Er

Angela Toss, Eleonora Molinaro, Margaret Sammarini, Maria C. Del Savio, Laura Cortesi, Fabio Facchinetti, Giovanni Grandi

BRCA Mutation Status to Personalize Management of Recurrent Ovarian Cancer: A Multicenter Study

Claudia Marchetti, Rossella De Leo, Angela Musella, Marco D’Indinosante, Ettore Capoluongo, Angelo Minucci, Pierluigi Benedetti Panici, Giovanni Scambia, Anna Fagotti

Annals of Surgical Oncology.2018; 25(12): 3701. CrossRef

Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients

Magdalena Koczkowska, Natalia Krawczynska, Maciej Stukan, Alina Kuzniacka, Izabela Brozek, Marcin Sniadecki, Jaroslaw Debniak, Dariusz Wydra, Wojciech Biernat, Piotr Kozlowski, Janusz Limon, Bartosz Wasag, Magdalena Ratajska

Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap

Jeanna M McCuaig, Tracy L Stockley, Patricia Shaw, Michael Fung-Kee-Fung, Alon D Altman, James Bentley, Marcus Q Bernardini, Beatrice Cormier, Hal Hirte, Katharina Kieser, Andree MacMillan, Wendy S Meschino, Karen Panabaker, Renee Perrier, Diane Provenche

Journal of Medical Genetics.2018; 55(9): 571. CrossRef