Izvorni znanstveni članak
https://doi.org/10.20471/LO.2020.48.02-03.10
Characteristics of breast cancer in BRCA1/BRCA2 mutation carriers and non-carriersfrom a genetic counseling unit in Croatia
Snježana Ramić
orcid.org/0000-0002-5916-8815
; Department of Oncological Pathology and Clinical Cytology, Ljudevit Jurak University Department of Pathology, Sestre milosrdnice University Hospital Center, Zagreb, Croatia; Genetic Counseling Unit, University Hospital for Tumors, Sestre milosrdnice University Hospital Center, Zagreb, Croatia
Gabriela Alfier
; Department of Reconstructive Surgery, University Hospital for Tumors, Sestre milosrdnice University Hospital Center, Zagreb, Croatia; Genetic Counseling Unit, University Hospital for Tumors, Sestre milosrdnice University Hospital Center, Zagreb, Croatia
Iva Kirac
; Department of Surgical Oncology, University Hospital for Tumors, Sestre milosrdnice University Hospital Center, Zagreb, Croatia; Genetic Counseling Unit, University Hospital for Tumors, Sestre milosrdnice University Hospital Center, Zagreb, Croatia
Ivan Milas
; Department of Reconstructive Surgery, University Hospital for Tumors, Sestre milosrdnice University Hospital Center, Zagreb, Croatia; Genetic Counseling Unit, University Hospital for Tumors, Sestre milosrdnice University Hospital Center, Zagreb, Croatia
Tomislav Orešić
; Department of Reconstructive Surgery, University Hospital for Tumors, Sestre milosrdnice University Hospital Center, Zagreb, Croatia; Genetic Counseling Unit, University Hospital for Tumors, Sestre milosrdnice University Hospital Center, Zagreb, Croatia
Sažetak
Breast cancer (BC) represents 25% of all malignancies in Croatian women, and in 18.8% of cases, it is diagnosed before the age of 50. Croatia launched BRCA testing of people at increased family risk. Hereditary BC is mainly caused by a pathogenic mutation in the BRCA1 or BRCA2 gene and is a significant risk factor for developing breast and ovarian cancer.
The present study included 127 women diagnosed with BC, with a strong family history of BC and the known status of the germline mutations in the BRCA1/BRCA2 genes. The majority of women were BRCA1/2 mutation non-carriers, while 15.7% were BRCA1/2 mutation carriers, and 4% had a variant of unknown significance (VUS). BRCA1/2 mutation carriers were younger than non-carriers (median 38.5 years vs. 44 years) (P=.01) and had tumors of higher histological grade (P<.001). The intrinsic subtype of BC differs significantly depending on the type of mutation (P<.001). Triple-negative BC prevailed (87.5%) in BRCA1 mutation carriers, and 12.5% had a luminal B/HER2-negative BC. Four patients were BRCA2 mutation carriers, and two of them had luminal B/HER2-positive BC. Most BRCA1/2 non-carriers (69.2%) and all VUS-carriers have luminal B/HER2-negative BC.
Our results show that BRCA1/2 mutation testing is essential for women with a family history burden. It is a piece of valuable information in breast cancer risk assessment and contributes to early diagnosis.
Ključne riječi
germline mutations; BRCA1; BRCA2; breast cancer; intrinsic subtype
Hrčak ID:
250268
URI
Datum izdavanja:
21.12.2020.
Posjeta: 2.421 *