Open AccessА case of breast cancer in pms2 mutation carrier
Author(s) -
Aleksei Vasiliev,
Г. А. Янус,
Evgenii Suspitsyn,
Aglaya G. Iyevleva,
Татяна Соколова,
Ilya V. Bizin,
А. А. Соколенко,
Elena V. Preobrazhenskaya,
Валерия Ни,
Tatiana A. Laidus,
Svetlana Chuynyshena,
Юлий Андреевич Горгуль,
Svetla. Aleksakhina,
Andrei Mikhetko,
Е. Н. Имянитов
Publication year - 2021
Publication title -
voprosy onkologii
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.108
H-Index - 11
eISSN - 2949-4915
pISSN - 0507-3758
DOI - 10.37469/0507-3758-2021-67-4-579-583
Subject(s) - pms2 , msh6 , lynch syndrome , mlh1 , msh2 , breast cancer , germline mutation , mutation , genetics , loss of heterozygosity , cancer , medicine , gene mutation , genetic testing , genetic counseling , biology , dna mismatch repair , gene , colorectal cancer , allele
Breast cancer (BC) is not a typical manifestation of Lynch syndrome. The existence and extent of excessive breast cancer risk in carriers of pathogenic mutations in the Lynch syndrome-associated genes (MLH1, MSH2, MSH6, PMS2) remains an open question. In addition, it is known that some of the breast neoplasms in patients with this syndrome are causally linked to the hereditary mutation, and some arise completely independently of the hereditary defect in the gene of the DNA mismatch repair system. In the case of accidental detection of such germline mutations in breast cancer patients, a thorough differential diagnosis between these categories of tumors is required, and the result of it is actionable, requiring changes in the management. This is a report of a case of breast cancer that arose in a carrier of a pathogenic mutation in the PMS2 gene, which was an accidental finding. The description of molecular genetic diagnostics is given: the microsatellite markers assessment and the detection of «loss of heterozygosity» allowed to classify the neoplasm in a category of cases that developed without any causal link to the patient's Lynch syndrome.