Listar por tema "germline mutation"

BRCA1 and BRCA2 germline testing in Cretan isolates reveals novel and strong founder effects

Apostolou P., Fostira F., Kouroussis C., Kalfakakou D., Delimitsou A., Agelaki S., Androulakis N., Christodoulou C., Kalbakis K., Kalykaki A., Sanidas E., Papadimitriou C., Vamvakas L., Georgoulias V., Mavroudis D., Yannoukakos D., Konstantopoulou I., Saloustros E. (2020)

Germline BRCA1 and BRCA2 loss-of-function variants have been linked to increased breast and ovarian cancer risk, with more than 5,000 distinct pathogenic variants being reported worldwide. Among individuals of Greek descent, ...

Checkpoint modulation in chronic hepatitis B: From hypothesis to approval

Germanidis G., Hytiroglou P., Vassiliadis T., Speletas M. (2018)

[No abstract available]

Extending the clinical phenotype associated with biallelic NTHL1 germline mutations

Fostira F., Kontopodis E., Apostolou P., Fragkaki M., Androulakis N., Yannoukakos D., Konstantopoulou I., Saloustros E. (2018)

[No abstract available]

The fate of BRCA1-related germline mutations in triple-negative breast tumors

Kotoula V., Fostira F., Papadopoulou K., Apostolou P., Tsolaki E., Lazaridis G., Manoussou K., Zagouri F., Pectasides D., Vlachos I., Tikas I., Lakis S., Konstantopoulou I., Pentheroudakis G., Gogas H., Papakostas P., Christodoulou C., Bafaloukos D., Razis E., Karavasilis V., Bamias C., Yannoukakos D., Fountzilas G. (2017)

The preservation of pathogenic BRCA1/2 germline mutations in tumor tissues is usually not questioned, while it remains unknown whether these interact with somatic genotypes for patient outcome. Herein we compared germline ...

Screening for TSC1 and TSC2 mutations using NGS in Greek children with tuberous sclerosis syndrome

Papadopoulou A., Dinopoulos A., Koutsodontis G., Pons R., Vorgia P., Koute V., Vratimos A., Zafeiriou D. (2018)

Tuberous Sclerosis Complex (TSC) is a rare neurocutaneous syndrome inherited by an autosomal dominant manner. The disorder is commonly manifested by the presence of multiple benign tumors located in numerous tissues, ...