Response to Roberts et al. 2018: cohort ascertainment and methods of analysis impact the association between cancer and genetic predisposition - the tale of breast cancer risk and Lynch syndrome genes MSH6/PMS2

2019 ◽  
Vol 21 (9) ◽  
pp. 2156-2157 ◽  
Author(s):  
Xia Wang ◽  
Jennifer P. Brzosowicz ◽  
Jong Y. Park
2021 ◽  
pp. 29-35
Author(s):  
Yu.I. Bandazhevskyi ◽  
◽  
N.F. Dubovaya ◽  

The aim of this paper was to assess the prevalence of the T risk allele of the MTHFR:677 genetic polymorphism in a group of girls from Ivankovsky and Polessky districts located near the Chernobyl exclusion zone. In addition, we assessed variants of combined carriership of the T allele with risk alleles of other genetic polymorphisms regulating the folate cycle. Research methods. Immunochemical, statistical. Results. Genetic predisposition to breast cancer risk was analyzed in a group of 251 adolescent girls. Carriership of the T allele of the MTHFR:С677Т polymorphism was found in 142 children (56.6%), while the homozygous T/T variant was found in 25 girls, or in 10.0% of cases. Compound heterozygosity for the 677CT/1298AC alleles of the MTHFR gene was recorded in 60 individuals, or in 23.9% of cases. Conclusions. The revealed genetic changes in the folate cycle lead to a significant decrease in the activity of methylenetetrahydrofolate reductase, and, accordingly, to an increase in the level of homocysteine in the blood, creating conditions for the occurrence of breast cancer. Given the high level of genetic predisposition, taking into account the constant impact on the body of radioactive elements and their decay products, the occurrence, as a consequence, of serious metabolic disorders, it is necessary to identify the breast cancer risk group of children.


2020 ◽  
Vol 40 ◽  
pp. 663
Author(s):  
J. Schumacher ◽  
M. Fuchs ◽  
M. Basrai ◽  
B. Seethaler ◽  
S.C. Bischoff

Swiss Surgery ◽  
2002 ◽  
Vol 8 (2) ◽  
pp. 45-52 ◽  
Author(s):  
Remmel ◽  
Harder

Prophylactic mastectomy is an aggressive strategy for breast cancer risk reduction. The indications and efficiency of this procedures are not yet clearly defined. Randomized, prospective studies, comparing different surgical procedures with other modalities of breast cancer risk reduction are lacking. The report evaluates the existing controversy, based on Medline search in the following sequence: risk factors, possibilities of risk reduction, effectiveness of risk reduction, technical considerations and recommendations. Patient selection is difficult and needs an interdisciplinary approach. The women have to be well informed about all treatment alternatives and various reconstructive procedures. An appropriate risk reduction strategy should be selected individually for each patient. Up to now, there exist only recommendations from different institutions but no definitive guidelines.


Sign in / Sign up

Export Citation Format

Share Document