Genetic Analysis of Multiple Primary Malignant Tumors in Women with Breast and Ovarian Cancer. / Savkova, Alina; Gulyaeva, Lyudmila; Gerasimov, Aleksey et al.
In: International Journal of Molecular Sciences, Vol. 24, No. 7, 6705, 04.04.2023.Research output: Contribution to journal › Article › peer-review
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TY - JOUR
T1 - Genetic Analysis of Multiple Primary Malignant Tumors in Women with Breast and Ovarian Cancer
AU - Savkova, Alina
AU - Gulyaeva, Lyudmila
AU - Gerasimov, Aleksey
AU - Krasil'nikov, Sergey
N1 - Funding: The work was supported by budgetary financing project FGMU-2022-0004, N1021050601085-9-1.6.4; 3.1.6.
PY - 2023/4/4
Y1 - 2023/4/4
N2 - Familial cancer syndromes, which are commonly caused by germline mutations in oncogenes and tumor suppressor genes, are generally considered to be the cause of primary multiple malignant neoplasias (PMMNs). Using targeted genomic sequencing, we screened for eight germline mutations: BRCA1 185delAG, BRCA1 T300G, BRCA1 2080delA, BRCA1 4153delA, BRCA1 5382insC, BRCA2 6174delT, CHEK2 1100delC, and BLM C1642T, which provoke the majority of cases of hereditary breast and ovary cancer syndrome (HBOC), in genomic (blood) DNA from 60 women with PMMNs, including breast (BC) and/or ovarian cancer(s) (OC). Pathogenic allelic forms were discovered in nine samples: in seven instances, it was BRCA1 5382insC, and in the following two, BRCA1 4153delA and BRCA1 T300G. The age of onset in these patients (46.8 years) was younger than in the general Russian population (61.0) for BC but was not for OC: 58.3 and 59.4, correspondingly. There were invasive breast carcinomas of no special type and invasive serous ovarian carcinomas in all cases. Two or more tumors of HBOC-spectrum were only in five out of nine families of mutation carriers. Nevertheless, every mutation carrier has relatives who have developed malignant tumors.
AB - Familial cancer syndromes, which are commonly caused by germline mutations in oncogenes and tumor suppressor genes, are generally considered to be the cause of primary multiple malignant neoplasias (PMMNs). Using targeted genomic sequencing, we screened for eight germline mutations: BRCA1 185delAG, BRCA1 T300G, BRCA1 2080delA, BRCA1 4153delA, BRCA1 5382insC, BRCA2 6174delT, CHEK2 1100delC, and BLM C1642T, which provoke the majority of cases of hereditary breast and ovary cancer syndrome (HBOC), in genomic (blood) DNA from 60 women with PMMNs, including breast (BC) and/or ovarian cancer(s) (OC). Pathogenic allelic forms were discovered in nine samples: in seven instances, it was BRCA1 5382insC, and in the following two, BRCA1 4153delA and BRCA1 T300G. The age of onset in these patients (46.8 years) was younger than in the general Russian population (61.0) for BC but was not for OC: 58.3 and 59.4, correspondingly. There were invasive breast carcinomas of no special type and invasive serous ovarian carcinomas in all cases. Two or more tumors of HBOC-spectrum were only in five out of nine families of mutation carriers. Nevertheless, every mutation carrier has relatives who have developed malignant tumors.
KW - BREAST AND OVARY CANCER SYNDROME
KW - MULTIPLE PRIMARY MALIGNANT NEOPLASIAS
KW - TARGETED GENOMIC SEQUENCING
UR - https://www.scopus.com/record/display.uri?eid=2-s2.0-85152319319&origin=inward&txGid=2c705c683e5449fd22bd15131e7ddb62
UR - https://elibrary.ru/item.asp?id=50517107
U2 - 10.3390/ijms24076705
DO - 10.3390/ijms24076705
M3 - Article
C2 - 37047678
VL - 24
JO - International Journal of Molecular Sciences
JF - International Journal of Molecular Sciences
SN - 1661-6596
IS - 7
M1 - 6705
ER -
ID: 47678515