title: Ð¡ÑÐ°Ð²Ð½ÐµÐ½Ð¸Ðµ Ð³ÐµÐ½ÐµÑÐ¸ÑÐµÑÐºÐ¾Ð¹ Ð½ÐµÑÑÐ°Ð±Ð¸Ð»ÑÐ½Ð¾ÑÑÐ¸ Ð² Ð¾Ð¿ÑÑ Ð¾Ð»ÑÑ BRCA1-Ð·Ð°Ð²Ð¸ÑÐ¸Ð¼Ð¾Ð³Ð¾ Ð¸ ÑÐ¿Ð¾ÑÐ°Ð´Ð¸ÑÐµÑÐºÐ¾Ð³Ð¾ ÑÐ°ÐºÐ° Ð¼Ð¾Ð»Ð¾ÑÐ½ÑÑ Ð¶ÐµÐ»ÐµÐ·
title: Ð²ÑÐ¿ÑÑÐºÐ½Ð°Ñ ÐºÐ²Ð°Ð»Ð¸ÑÐ¸ÐºÐ°ÑÐ¸Ð¾Ð½Ð½Ð°Ñ ÑÐ°Ð±Ð¾ÑÐ° Ð±Ð°ÐºÐ°Ð»Ð°Ð²ÑÐ°
titleType: Subtitle
title: Comparison of genetic instability in tumors BRCA1-dependent and sporadic breast cancer
Creators: name: ÐÐ°Ð³ÑÐµÐ±Ð¸Ð½, Ð¤ÑÐ´Ð¾Ñ
Publisher: name: Ð¡Ð°Ð½ÐºÑ-ÐÐµÑÐµÑÐ±ÑÑÐ³ÑÐºÐ¸Ð¹ Ð¿Ð¾Ð»Ð¸ÑÐµÑÐ½Ð¸ÑÐµÑÐºÐ¸Ð¹ ÑÐ½Ð¸Ð²ÐµÑÑÐ¸ÑÐµÑ ÐÐµÑÑÐ° ÐÐµÐ»Ð¸ÐºÐ¾Ð³Ð¾
Year: 2021
Subjects: BRCA1-Ð·Ð°Ð²Ð¸ÑÐ¸Ð¼ÑÐ¹ ÑÐ¼Ð¶
ÑÐ¿Ð¾ÑÐ°Ð´Ð¸ÑÐµÑÐºÐ¸Ð¹ ÑÐ¼Ð¶
Ð³ÐµÐ½ÐµÑÐ¸ÑÐµÑÐºÐ°Ñ Ð½ÐµÑÑÐ°Ð±Ð¸Ð»ÑÐ½Ð¾ÑÑÑ
BRCAness
droplet digital PCR
Ð°Ð¼Ð¿Ð»Ð¸ÑÐ¸ÐºÐ°ÑÐ¸Ñ Ð³ÐµÐ½Ð° C-MYC
Ñ ÑÐ¾Ð¼Ð¾ÑÐ¾Ð¼Ð½ÑÐµ Ð°Ð±ÐµÑÑÐ°ÑÐ¸Ð¸
BRCA-dependent bc
sporadic bc
genetic instability
C-MYC gene amplification
chromosomal aberration

description: ÐÐ¿ÑÑÐ¾Ð»Ð¸, Ð²Ð¾Ð·Ð½Ð¸ÐºÐ°ÑÑÐ¸Ðµ Ñ Ð½Ð¾ÑÐ¸ÑÐµÐ»ÐµÐ¹ Ð½Ð°ÑÐ»ÐµÐ´ÑÑÐ²ÐµÐ½Ð½ÑÑ Ð¼ÑÑÐ°ÑÐ¸Ð¹ Ð² Ð³ÐµÐ½Ð°Ñ BRCA1 Ð¸ BRCA2, ÑÐ°ÑÐ°ÐºÑÐµÑÐ¸Ð·ÑÑÑÑÑ ÑÐ½Ð¸ÐºÐ°Ð»ÑÐ½Ð¾Ð¹ ÑÑÐ²ÑÑÐ²Ð¸ÑÐµÐ»ÑÐ½Ð¾ÑÑÑÑ Ðº Ð¿ÑÐµÐ¿Ð°ÑÐ°- ÑÐ°Ð¼ Ð¿Ð»Ð°ÑÐ¸Ð½Ñ Ð¸ Ð¸Ð½Ð³Ð¸Ð±Ð¸ÑÐ¾ÑÐ°Ð¼ ÑÐµÑÐ¼ÐµÐ½ÑÐ° PARP (poly (ADP-ribose) polymerase). Ð­ÑÑÐµÐºÑÐ¸Ð²Ð½Ð¾ÑÑÑ Ð¿ÑÐµÐ¿Ð°ÑÐ°ÑÐ¾Ð² Ð¿Ð»Ð°ÑÐ¸Ð½Ñ Ð¸, Ð²Ð¾Ð·Ð¼Ð¾Ð¶Ð½Ð¾, Ð¸Ð½Ð³Ð¸Ð±Ð¸ÑÐ¾ÑÐ¾Ð² PARP, Ð½Ðµ Ð¾Ð³ÑÐ°Ð½Ð¸ÑÐ¸Ð²Ð°ÐµÑÑÑ Ð½Ð°ÑÐ»ÐµÐ´ÑÑÐ²ÐµÐ½Ð½ÑÐ¼Ð¸ ÑÐ°ÐºÐ°Ð¼Ð¸ â Ð½Ð° Ð¿Ð¾Ð´Ð¾Ð±Ð½ÑÑ ÑÐµÑÐ°Ð¿Ð¸Ñ Ð¾ÑÐ²ÐµÑÐ°ÐµÑ Ð·Ð½Ð°ÑÐ¸ÑÐµÐ»ÑÐ½Ð¾Ðµ ÑÐ¸ÑÐ»Ð¾ Ð¿Ð°ÑÐ¸ÐµÐ½ÑÐ¾Ð² ÑÐ¾ ÑÐ¿Ð¾ÑÐ°Ð´Ð¸ÑÐµÑÐºÐ¸Ð¼Ð¸ Ð½Ð¾Ð²Ð¾Ð¾Ð±ÑÐ°Ð·Ð¾Ð²Ð°Ð½Ð¸ÑÐ¼Ð¸. ÐÐµÑÐ°Ð½Ð¸Ð·Ð¼Ñ Ð¿Ð¾Ð´Ð¾Ð±Ð½ÑÑ Ð¾ÑÐ²ÐµÑÐ¾Ð² ÑÐ²ÑÐ·ÑÐ²Ð°ÑÑ Ñ ÑÐµÐ½Ð¾Ð¼ÐµÐ½Ð¾Ð¼ BRCAness (BRCA-Ð¿Ð¾Ð´Ð¾Ð±Ð½Ð¾ÑÑÑ). ÐÐ° Ð´Ð°Ð½Ð½ÑÐ¹ Ð¼Ð¾Ð¼ÐµÐ½Ñ Ð½Ðµ ÑÑÑÐµÑÑÐ²ÑÐµÑ Ð¿ÑÐ¾ÑÑÑÑ, Ð±ÑÑÑÑÑÑ Ð¸ Ð¾ÑÐºÑÑÑÑÑ ÑÐµÑÑ-ÑÐ¸ÑÑÐµÐ¼, Ð½Ð°Ð¿ÑÐ°Ð²Ð»ÐµÐ½Ð½ÑÑ Ð½Ð° Ð¾Ð±Ð½Ð°ÑÑÐ¶ÐµÐ½Ð¸Ðµ BRCA-Ð¿Ð¾Ð´Ð¾Ð±Ð½Ð¾ÑÑÐ¸. ÐÐ¾ÑÑÐ¾Ð¼Ñ ÑÐµÐ»ÑÑ Ð´Ð°Ð½Ð½Ð¾Ð¹ ÑÐ°Ð±Ð¾ÑÑ Ð±ÑÐ»Ð¾ ÑÐ°Ð·ÑÐ°Ð±Ð¾ÑÐ°ÑÑ Ð¼ÐµÑÐ¾Ð´Ð¸ÐºÑ ÑÐºÑÐ¸Ð½Ð¸Ð½Ð³Ð¾Ð²Ð¾Ð³Ð¾ Ð¾Ð¿ÑÐµÐ´ÐµÐ»ÐµÐ½Ð¸Ñ Ð¼Ð°ÑÐºÐµÑÐ¾Ð² Ð³ÐµÐ½ÐµÑÐ¸ÑÐµÑÐºÐ¾Ð¹ Ð½ÐµÑÑÐ°Ð±Ð¸Ð»ÑÐ½Ð¾ÑÑÐ¸, Ð²ÑÑÐ²Ð»ÐµÐ½Ð½ÑÑ Ð¿Ð¾ÑÑÐµÐ´ÑÑÐ²Ð¾Ð¼ NGS, Ð¸ Ð¿ÑÐ¾Ð²ÐµÑÐ¸ÑÑ Ð³Ð¸Ð¿Ð¾ÑÐµÐ·Ñ Ð´Ð¾ÑÑÐ°ÑÐ¾ÑÐ½Ð¾ÑÑÐ¸ ÑÑÐ¸Ð¿Ð»ÐµÑÐ° Ð¼Ð°ÑÐºÐµÑÐ¾Ð²: Ð°Ð¼Ð¿Ð»Ð¸ÑÐ¸ÐºÐ°ÑÐ¸Ñ Ð³ÐµÐ½Ð° C-MYC, ÑÐ°Ð·ÑÑÐ² 8 Ð¸ 22 ÑÑÐ¾Ð¼Ð¾ÑÐ¾Ð¼Ñ Ð´Ð»Ñ Ð¾Ð¿ÑÐµÐ´ÐµÐ»ÐµÐ½Ð¸Ñ Ð¿ÑÐ¸ÑÑÑÑÑÐ²Ð¸Ñ ÑÐµÐ½Ð¾ÑÐ¸Ð¿Ð° BRCA-Ð¿Ð¾Ð´Ð¾Ð±Ð½Ð¾ÑÑÐ¸. Ð ÑÐ°Ð±Ð¾ÑÐµ Ð±ÑÐ»Ð¾ Ð¿ÑÐ¾Ð°Ð½Ð°Ð»Ð¸Ð·Ð¸ÑÐ¾Ð²Ð°Ð½Ð¾ 406 Ð¾Ð±ÑÐ°Ð·ÑÐ¾Ð² ÐÐÐ Ð¾Ð¿ÑÑÐ¾Ð»ÐµÐ¹ ÑÐ°ÐºÐ° Ð¼Ð¾Ð»Ð¾ÑÐ½Ð¾Ð¹ Ð¶ÐµÐ»ÐµÐ·Ñ Ñ Ð¿Ð¾Ð¼Ð¾ÑÑÑ Ð¼ÐµÑÐ¾Ð´Ð° ÑÐ¸ÑÑÐ¾Ð²Ð¾Ð¹ ÐºÐ°Ð¿ÐµÐ»ÑÐ½Ð¾Ð¹ ÐÐ¦Ð . ÐÑÐµ Ð¾Ð±ÑÐ°Ð·ÑÑ Ð±ÑÐ»Ð¸ Ð¿Ð¾Ð´ÐµÐ»ÐµÐ½Ñ Ð½Ð° Ð³ÑÑÐ¿Ð¿Ñ Ð¾Ð¿ÑÑÐ¾Ð»ÐµÐ¹ â ER- Ð¸ HER2-Ð¿Ð¾Ð·Ð¸ÑÐ¸Ð²Ð½ÑÐµ, triple-negative breast cancer, BRCA1-Ð°ÑÑÐ¾ÑÐ¸Ð¸ÑÐ¾Ð²Ð°Ð½Ð½ÑÐµ â Ð¸ Ð¿ÑÐ¾Ð°Ð½Ð°Ð»Ð¸Ð·Ð¸ÑÐ¾Ð²Ð°Ð½Ñ Ð¿Ð¾-Ð¾ÑÐ´ÐµÐ»ÑÐ½Ð¾ÑÑÐ¸. ÐÐ°Ð½Ð½ÑÐµ ÑÐºÑÐ¿ÐµÑÐ¸Ð¼ÐµÐ½ÑÐ¾Ð² Ð¿Ð¾ÐºÐ°Ð·Ð°Ð»Ð¸, ÑÑÐ¾ Ð½Ð°Ð¹Ð´ÐµÐ½Ð½ÑÐµ Ð¾Ð±ÑÐ¸Ðµ ÑÐ¾ÑÐºÐ¸ Ð¸Ð½ÑÐµÑÐµÑÐ°, ÑÐ°ÑÐ°ÐºÑÐµÑÐ¸Ð·ÑÑÑÐ¸Ðµ Ð³ÐµÐ½ÐµÑÐ¸ÑÐµÑÐºÑÑ Ð½ÐµÑÑÐ°Ð±Ð¸Ð»ÑÐ½Ð¾ÑÑÑ ÑÐµÐ½Ð¾Ð¼ÐµÐ½Ð° BRCAness, Ð½Ðµ ÑÐ²Ð»Ñ- ÑÑÑÑ Ð¾Ð¿ÑÐµÐ´ÐµÐ»ÑÑÑÐ¸Ð¼Ð¸ Ð¼Ð°ÑÐºÐµÑÐ°Ð¼Ð¸ Ð´Ð»Ñ ÑÐºÑÐ¸Ð½Ð¸Ð½Ð³Ð° Ð¿ÑÐ¸ÑÑÑÑÑÐ²Ð¸Ñ ÑÐµÐ½Ð¾ÑÐ¸Ð¿Ð° BRCA- Ð¿Ð¾Ð´Ð¾Ð±Ð½Ð¾ÑÑÐ¸. ÐÐµÑÐ¾Ð´ Ð½ÑÐ¶Ð´Ð°ÐµÑÑÑ Ð² ÑÐ°ÑÑÐ¸ÑÐµÐ½Ð¸Ð¸, Ð° Ð¸Ð¼ÐµÐ½Ð½Ð¾ Ð² Ð¿Ð¾Ð¸ÑÐºÐµ Ð´Ð¾Ð¿Ð¾Ð»Ð½Ð¸ÑÐµÐ»ÑÐ½ÑÑ ÑÑÐ¾Ð¼Ð¾ÑÐ¾Ð¼Ð½ÑÑ Ð°Ð±ÐµÑÑÐ°ÑÐ¸Ð¹, Ð¾Ð¿ÑÐµÐ´ÐµÐ»ÑÑÑÐ¸Ñ Ð³ÐµÐ½ÐµÑÐ¸ÑÐµÑÐºÑÑ Ð½ÐµÑÑÐ°Ð±Ð¸Ð»ÑÐ½Ð¾ÑÑÑ ÑÐµÐ½Ð¾Ð¼ÐµÐ½Ð° BRCAness.
description: Tumors arising in carriers of hereditary mutations in the BRCA1 and BRCA2 genes are characterized by a unique sensitivity to platinum preparations and inhibitors of the PARP (poly (ADP-ribose) polymerase) enzyme. The efficacy of platinum and possibly PARP inhibitors is not limited to hereditary cancers - a significant number of patients with sporadic neoplasms respond to such therapy. The mechanisms of such responses are associated with the BRCAness phenomenon. Now, there are no simple, fast and open test systems aimed at detecting BRCAness. Therefore, the aim of this work was to develop a method for the screening determination of markers of genetic instability identified by NGS, and to test the hypothesis of the sufficiency of the triplet of markers: C-MYC, chromosome 8 and 22 break to determine the presence of the BRCAness phenotype. In the work, 406 DNA samples of breast cancer tumors were analyzed using the droplet digital PCR method. All samples were divided into groups of tumors - ER- and HER2-positive, triple-negative breast cancer, BRCA1-associated - and analyzed separately. The experimental data showed that the found common points of interest characterizing the genetic instability of the BRCAness phenomenon are not defining markers for screening for the presence of the BRCAness phenotype. The method needs to be expanded, namely, in the search for additional chromosomal aberrations that determine the genetic instability of the BRCAness phenomenon.