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Clinical Outcome of Hereditary Breast Cancer in the Lithuanian Population [PDF]

Hereditary Cancer in Clinical Practice, 2005
Breast cancer family history has been known to be one of the main cancer risk factors. Members of high-risk families should be given recommendations which may improve prophylaxis, early diagnosis and treatment. Detection of high-risk families is possible
Elsakov Pavel, Kurtinaitis Juozas, Ostapenko Valerij   +2 more
doaj   +2 more sources

Molecular phenotypes and clinical characterization of familial hereditary breast cancer among half and full sisters [PDF]

BMC Women's Health, 2022
Background Preliminary clinical observations show that contemporaneous hereditary breast cancer (CHBC) patients suffered breast cancer at an early age, which requires further analysis.
Yingjie Xu, Jun He, Chen Qian, Chengguang Yang   +3 more
doaj   +2 more sources

Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility [PDF]

Scientific Reports, 2017
Several known breast cancer susceptibility genes encode proteins involved in DNA damage response (DDR) and are characterized by rare loss-of-function mutations. However, these explain less than half of the familial cases. To identify novel susceptibility
Tuomo Mantere, Anna Tervasmäki, Anna Nurmi, Katrin Rapakko, Saila Kauppila, Jiangbo Tang, Johanna Schleutker, Anne Kallioniemi, Jaana M. Hartikainen, Arto Mannermaa, Pentti Nieminen, Riitta Hanhisalo, Sini Lehto, Maija Suvanto, Mervi Grip, Arja Jukkola-Vuorinen, Maria Tengström, Päivi Auvinen, Anders Kvist, Åke Borg, Carl Blomqvist, Kristiina Aittomäki, Roger A. Greenberg, Robert Winqvist, Heli Nevanlinna, Katri Pylkäs   +25 more
doaj   +3 more sources

How does re-classification of variants of unknown significance (VUS) impact the management of patients at risk for hereditary breast cancer? [PDF]

BMC Medical Genomics, 2022
Background The popularity of multigene testing increases the probability of identifying variants of uncertain significance (VUS). While accurate variant interpretation enables clinicians to be better informed of the genetic risk of their patients ...
Ava Kwong, Cecilia Yuen Sze Ho, Vivian Yvonne Shin, Chun Hang Au, Tsun-Leung Chan, Edmond Shiu Kwan Ma   +5 more
doaj   +2 more sources

Psychological factors and the uptake of preventative measures in BRCA1/2 pathogenic variant carriers: results of a prospective cohort study

Hereditary Cancer in Clinical Practice, 2022
Background Women carrying BRCA1/2 pathogenic variants are exposed to elevated risks of developing breast cancer (BC) and are faced by a complex decision-making process on preventative measures, i.e., risk-reducing mastectomy (RRM), and intensified breast
Julia Dick, Anja Tüchler, Anne Brédart, Frank Vitinius, Kirsten Wassermann, Kerstin Rhiem, Rita K. Schmutzler   +6 more
doaj   +1 more source

Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1

Genome Medicine, 2023
Background Germline variants affecting the proofreading activity of polymerases epsilon and delta cause a hereditary cancer and adenomatous polyposis syndrome characterized by tumors with a high mutational burden and a specific mutational spectrum.
Pilar Mur, Julen Viana-Errasti, Sandra García-Mulero, Lorena Magraner-Pardo, Inés G. Muñoz, Tirso Pons, Gabriel Capellá, Marta Pineda, Lidia Feliubadaló, Laura Valle   +9 more
doaj   +1 more source

Comparison of clinical features and oncologic outcomes between familial non-hereditary and hereditary breast cancer in Korean female patients

Asian Journal of Surgery, 2020
Background: The authors compared the clinical features between familial (non-hereditary) and hereditary breast cancer. And we also analyzed their oncologic outcomes to establish appropriate surveillance protocol for familial (non-hereditary) and ...
Chan Sub Park, Ho Yong Park, Jin Hyang Jung, Wan Wook Kim, Yee Soo Chae, Soo Jung Lee, Ji-Young Park, Jee Young Park, Jeeyeon Lee   +8 more
doaj   +1 more source

Association between 15 known or potential breast cancer susceptibility genes and breast cancer risks in Chinese women

Cancer Biology & Medicine, 2022
Objective: There are many hereditary breast cancer patients in China, and multigene panel testing has been a new paradigm of genetic testing for these patients and their relatives.
Fenfen Fu, Dongjie Zhang, Li Hu, Senthil Sundaram, Dingge Ying, Ying Zhang, Shuna Fu, Juan Zhang, Lu Yao, Ye Xu, Yuntao Xie   +10 more
doaj   +1 more source

Risk of ipsilateral breast tumor recurrence and contralateral breast cancer in patients with and without TP53 variant in a large series of breast cancer patients

Breast, 2022
Background: The association between breast cancer patients with a TP53 pathogenic variant and risk of local recurrence and contralateral breast cancer remains largely unknown.
Yonghai Guo, Qiting Wan, Tao Ouyang, Jinfeng Li, Tianfeng Wang, Zhaoqing Fan, Yuntao Xie   +6 more
doaj   +1 more source

RT-PCR Analysis of TOPBP1 Gene Expression in Hereditary Breast Cancer [PDF]

, 2010
Hereditary predisposition to breast cancer determined in large part by loss of function mutations in one of two genes BRCA1 and BRCA2. Besides BRCA1 and BRCA2 other genes are also likely to be involved in hereditary predisposition to breast cancer ...
Bernaciak, Magdalena, Bryś, Magdalena, Forma, Ewa, Romanowicz-Makowska, Hanna   +3 more
core   +2 more sources