Homologous recombination deficiency in ovarian, breast, colorectal, pancreatic, non-small cell lung and prostate cancers, and the mechanisms of resistance to PARP …

N Mekonnen, H Yang, YK Shin - Frontiers in oncology, 2022 - frontiersin.org
Homologous recombination (HR) is a highly conserved DNA repair mechanism that protects
cells from exogenous and endogenous DNA damage. Breast cancer 1 (BRCA1) and breast …

Literature Review of BARD1 as a Cancer Predisposing Gene with a Focus on Breast and Ovarian Cancers

WM Alenezi, CT Fierheller, N Recio, PN Tonin - Genes, 2020 - mdpi.com
Soon after the discovery of BRCA1 and BRCA2 over 20 years ago, it became apparent that
not all hereditary breast and/or ovarian cancer syndrome families were explained by …

BRIP1, RAD51C, and RAD51D mutations are associated with high susceptibility to ovarian cancer: mutation prevalence and precise risk estimates based on a …

M Suszynska, M Ratajska, P Kozlowski - Journal of ovarian research, 2020 - Springer
Background It is estimated that more than 20% of ovarian cancer cases are associated with
a genetic predisposition that is only partially explained by germline mutations in the BRCA1 …

Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population

S da Costa e Silva Carvalho, NM Cury, DB Brotto… - BMC medical …, 2020 - Springer
Abstract Background The Hereditary Breast and Ovarian Cancer Syndrome (HBOC) occurs
in families with a history of breast/ovarian cancer, presenting an autosomal dominant …

[HTML][HTML] Human CtIP: A 'double agent'in DNA repair and tumorigenesis

NL Mozaffari, F Pagliarulo, AA Sartori - Seminars in cell & developmental …, 2021 - Elsevier
Human CtIP was originally identified as an interactor of the retinoblastoma protein and
BRCA1, two bona fide tumour suppressors frequently mutated in cancer. CtIP is renowned …

Multigene panel germline testing of 1333 Czech patients with ovarian cancer

K Lhotova, L Stolarova, P Zemankova, M Vocka… - Cancers, 2020 - mdpi.com
Ovarian cancer (OC) is the deadliest gynecologic malignancy with a substantial proportion
of hereditary cases and a frequent association with breast cancer (BC). Genetic testing …

[HTML][HTML] The role of PPM1D in cancer and advances in studies of its inhibitors

W Deng, J Li, K Dorrah, D Jimenez-Tapia… - Biomedicine & …, 2020 - Elsevier
A greater understanding of factors causing cancer initiation, progression and evolution is of
paramount importance. Among them, the serine/threonine phosphatase PPM1D, also …

Risk assessment and genetic counseling for hereditary breast and ovarian cancer syndromes—Practice resource of the National Society of Genetic Counselors

JL Berliner, SA Cummings… - Journal of Genetic …, 2021 - Wiley Online Library
Cancer risk assessment and genetic counseling for hereditary breast and ovarian cancer
(HBOC) are a communication process to inform and prepare patients for genetic test results …

Insight into genetic susceptibility to male breast cancer by multigene panel testing: Results from a multicenter study in Italy

P Rizzolo, V Zelli, V Silvestri, V Valentini… - … Journal of Cancer, 2019 - Wiley Online Library
Breast cancer (BC) in men is rare and genetic predisposition is likely to play a relevant role
in its etiology. Inherited mutations in BRCA1/2 account for about 13% of all cases and …

Increased cancer prevalence in peripartum cardiomyopathy

TJ Pfeffer, S Schlothauer, S Pietzsch, M Schaufelberger… - Cardio Oncology, 2019 - jacc.org
Objectives This study was designed to analyze the prevalence and potential genetic basis of
cancer and heart failure in peripartum cardiomyopathy (PPCM). Background PPCM …