gene mutation carrier
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2020 ◽  
Vol 39 (07) ◽  
pp. 162-166
Author(s):  
Sara Forcén ◽  
Ane Miren Crespo Cuevas ◽  
Iban Aldecoa ◽  
Oscar Ramos ◽  
Lourdes Ispierto ◽  
...  

2020 ◽  
Vol 19 ◽  
pp. 153473542092261
Author(s):  
Richard T. Lee ◽  
Andrea Amico ◽  
David Malaka ◽  
Rachel Lewin ◽  
Shelly A. Cummings ◽  
...  

Background: Women diagnosed as having a high risk for breast cancer (HR-BC) often seek different health behaviors (HBs) such as complementary and alternative medicine (CAM), diet, and exercise to improve their health and cancer outcome. Methods: Women already enrolled in a multimodality screening study for patients at HR-BC (gene mutation carrier or >20% cumulative lifetime risk) were given a questionnaire to evaluate their use of CAM therapies, diet, and exercise before and after a diagnosis of HR-BC. Patients were also asked to complete the Short-Form 36, State-Trait Anxiety Inventory, and Beck Depression Inventory. Results: A total of 134 (67%) subjects completed the survey from the original cohort. General characteristics included a median age of 46 years (range = 24-73 years), majority were White (91%), BRCA1/2 gene mutation carrier (49%), and prior diagnosis of breast and/or ovarian cancer (30%). Almost all of the patients reported a lifetime prevalence of any HB (97%) and CAM utilization (91%). Subjects also had a high lifetime utilization of exercise (83%), herbs and supplements(72%), and diet programs (58%). All of these HBs declined in utilization after diagnosis of HR-BC by as much as 30%. After diagnosis of a HR-BC, a personal history of breast and/or ovarian cancer was significantly correlated with increased use of CAM (odds ratio [OR] = 5.9, P < .01), herbs and supplements (OR = 4.3, P < .01), and diet program (OR = 4.4, P < .01) in multivariate analysis. Conclusions: HBs such as CAM, diet, and exercise are highly prevalent among women with HR-BC, and the utilization of HB decreases significantly after diagnosis of HR-BC.


2017 ◽  
Vol 17 (8) ◽  
pp. 581-584 ◽  
Author(s):  
Michael Co ◽  
Rosemarie Chiu ◽  
Tung Milly Chiu ◽  
Yau Chun Chong ◽  
Swan Lau ◽  
...  

2017 ◽  
Vol 158 (30) ◽  
pp. 1182-1187
Author(s):  
Gergely Kóder ◽  
Judit Olasz ◽  
László Tóth ◽  
Hilda Urbancsek ◽  
Csilla András ◽  
...  

Abstract: Introduction: Hereditary nonpolyposis colorectal carcinoma (HNPCC) is an autosomal dominant disease, which shows familial clustering. Aim: We would like to emphasize the importance of monitoring the HNPCC syndrome patients by presenting a case of a proven MMR gene mutation carrier and her family tree encompassing 10 years. Materials and method: To screen a suspected HNPCC Hungarian family member we are taking thorough family histories. If the diagnosis of HNPCC was further supported by immunohistology and the microsatellite status, sequencing of the MMR genes was carried out. Results: A novel mutation in exon 6 of the hMSH2 gene leading to the deletion of two nucleotide pairs [c.969-970delTC] was detected in our patient. During the 10-year follow-up period of our patient new HNPCC-associated tumors have developed in several family members. Conslusion: Close surveillance of the patient and its family members at risk was effective, although it requires compliance from the subjects. Orv Hetil. 2017; 158(30): 1182–1187.


2017 ◽  
Vol 375 ◽  
pp. 245-247 ◽  
Author(s):  
Martin Paucar ◽  
Håkan Almqvist ◽  
Vesna Jelic ◽  
Göran Hagman ◽  
Gun Jörneskog ◽  
...  

2012 ◽  
Vol 67 (5) ◽  
pp. 300-302 ◽  
Author(s):  
István Gáti ◽  
Olof Danielsson ◽  
Cecilia Gunnarsson ◽  
Magnus Vrethem ◽  
Bo Häggqvist ◽  
...  

2005 ◽  
Vol 36 (12) ◽  
pp. 1322-1326 ◽  
Author(s):  
P WESTENEND ◽  
R SCHUTTE ◽  
M HOOGMANS ◽  
A WAGNER ◽  
W DINJENS

2003 ◽  
Vol 4 (10) ◽  
pp. 637-638 ◽  
Author(s):  
Marc Pocard ◽  
Christophe Pomel ◽  
Philippe Lasser

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