Study of Selected BRCA1, BRCA2, and PIK3CA Mutations in Benign and Malignant Lesions of Anogenital Mammary-Like Glands
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11140%2F17%3A10360775" target="_blank" >RIV/00216208:11140/17:10360775 - isvavai.cz</a>
Alternative codes found
RIV/00669806:_____/17:10360775
Result on the web
<a href="http://dx.doi.org/10.1097/DAD.0000000000000725" target="_blank" >http://dx.doi.org/10.1097/DAD.0000000000000725</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1097/DAD.0000000000000725" target="_blank" >10.1097/DAD.0000000000000725</a>
Alternative languages
Result language
angličtina
Original language name
Study of Selected BRCA1, BRCA2, and PIK3CA Mutations in Benign and Malignant Lesions of Anogenital Mammary-Like Glands
Original language description
Anogenital mammary-like glands (AGMLGs) are nowadays considered a normal component of the anogenital area. Lesions involving AGMLGs are histopathologically very similar to their mammary counterparts, but the information on molecular biological mechanisms in these vulvar/perianal tumors is scarce. Mutations in the PI3K-AKT cascade have been found in hidradenoma papilliferum. The authors studied selected BRCA1, BRCA2, and PIK3CA mutations in series of benign and malignant neoplasms thought to be associated with AGMLGs, including 9 cases of primary extramammary Paget disease, 3 different cases of mammary-type carcinoma (adenoid cystic like, tubulolobular, and invasive ductal like), and 5 cases of hidradenoma papilliferum. No BRCA mutation was detected, whereas 3 neoplasms yielded PIK3CA mutation, including extramammary Paget disease, mammary-type invasive ductal carcinoma, and tubulolobular carcinoma. Our study expands the spectrum of lesions of AGMLGs harboring mutations in genes encoding the PI3K-AKT cascade. Further studies of the whole BRCA1 and BRCA2 genes using a larger cohort are needed to clarify their role in the pathogenesis of AGMLG lesions.
Czech name
—
Czech description
—
Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
—
OECD FORD branch
30216 - Dermatology and venereal diseases
Result continuities
Project
—
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2017
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
The American Journal of Dermatopathology
ISSN
0193-1091
e-ISSN
—
Volume of the periodical
39
Issue of the periodical within the volume
5
Country of publishing house
US - UNITED STATES
Number of pages
5
Pages from-to
358-362
UT code for WoS article
000399810200010
EID of the result in the Scopus database
2-s2.0-85015145539