scholarly journals Bent Spine Syndrome: A Phenotype of Dysferlinopathy or a Symptomatic DYSF Gene Mutation Carrier

2012 ◽  
Vol 67 (5) ◽  
pp. 300-302 ◽  
Author(s):  
István Gáti ◽  
Olof Danielsson ◽  
Cecilia Gunnarsson ◽  
Magnus Vrethem ◽  
Bo Häggqvist ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Mutation Carrier ◽  
Gene Mutation Carrier ◽  
Bent Spine Syndrome

Laparoscopic prophylactic surgery for HNPCC gene mutation carrier: has the time come?

2003 ◽  
Vol 4 (10) ◽  
pp. 637-638 ◽  
Author(s):  
Marc Pocard ◽  
Christophe Pomel ◽  
Philippe Lasser
Keyword(s):  
Gene Mutation ◽  
Mutation Carrier ◽  
Prophylactic Surgery ◽  
Gene Mutation Carrier

scholarly journals Utilization of Complementary Alternative Medicine, Diet, and Exercise Among Women at High Risk for Developing Breast Cancer

2020 ◽  
Vol 19 ◽  
pp. 153473542092261
Author(s):  
Richard T. Lee ◽  
Andrea Amico ◽  
David Malaka ◽  
Rachel Lewin ◽  
Shelly A. Cummings ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
High Risk ◽  
Alternative Medicine ◽  
Gene Mutation ◽  
Mutation Carrier ◽  
Short Form ◽  
Complementary Alternative Medicine ◽  
Gene Mutation Carrier ◽  
Diet And Exercise

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.

scholarly journals Association Between Hemochromatosis (HFE) Gene Mutation Carrier Status and the Risk of Colon Cancer

2003 ◽  
Vol 95 (2) ◽  
pp. 154-159 ◽  
Author(s):  
N. J. Shaheen ◽  
L. M. Silverman ◽  
T. Keku ◽  
L. B. Lawrence ◽  
E. M. Rohlfs ◽  
...  
Keyword(s):  
Colon Cancer ◽  
Gene Mutation ◽  
Mutation Carrier ◽  
Hfe Gene ◽  
Carrier Status ◽  
Gene Mutation Carrier ◽  
Hfe Gene Mutation

Nipple-Sparing Mastectomy and Its Application on BRCA Gene Mutation Carrier

2017 ◽  
Vol 17 (8) ◽  
pp. 581-584 ◽  
Author(s):  
Michael Co ◽  
Rosemarie Chiu ◽  
Tung Milly Chiu ◽  
Yau Chun Chong ◽  
Swan Lau ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Mutation Carrier ◽  
Brca Gene ◽  
Gene Mutation Carrier ◽  
Nipple Sparing Mastectomy ◽  
Nipple Sparing ◽  
Brca Gene Mutation

A SLC20A2 gene mutation carrier displaying ataxia and increased levels of cerebrospinal fluid phosphate

2017 ◽  
Vol 375 ◽  
pp. 245-247 ◽  
Author(s):  
Martin Paucar ◽  
Håkan Almqvist ◽  
Vesna Jelic ◽  
Göran Hagman ◽  
Gun Jörneskog ◽  
...  
Keyword(s):  
Cerebrospinal Fluid ◽  
Gene Mutation ◽  
Mutation Carrier ◽  
Gene Mutation Carrier ◽  
Slc20a2 Gene

Breast cancer in an MSH2 gene mutation carrier

2005 ◽  
Vol 36 (12) ◽  
pp. 1322-1326 ◽  
Author(s):  
P WESTENEND ◽  
R SCHUTTE ◽  
M HOOGMANS ◽  
A WAGNER ◽  
W DINJENS
Keyword(s):  
Breast Cancer ◽  
Gene Mutation ◽  
Mutation Carrier ◽  
Msh2 Gene ◽  
Gene Mutation Carrier

449 BRCA1 gene mutation carrier analysis in familial breast cancer patients

1995 ◽  
Vol 31 ◽  
pp. S96-S97
Author(s):  
M.A. Caligo ◽  
C. Ghimenti ◽  
S. Ricci ◽  
A. Antonuzzo ◽  
V. Marchetti ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Gene Mutation ◽  
Mutation Carrier ◽  
Familial Breast Cancer ◽  
Brca1 Gene ◽  
Breast Cancer Patients ◽  
Brca1 Gene Mutation ◽  
Gene Mutation Carrier ◽  
Carrier Analysis

Overlapping neuropathological findings in an asymptomatic SPAST gene mutation carrier

2020 ◽  
Vol 39 (07) ◽  
pp. 162-166
Author(s):  
Sara Forcén ◽  
Ane Miren Crespo Cuevas ◽  
Iban Aldecoa ◽  
Oscar Ramos ◽  
Lourdes Ispierto ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Mutation Carrier ◽  
Gene Mutation Carrier
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