Results 101 to 110 of about 113,876 (211)

BRIP-1 germline mutation and its role in colon cancer: presentation of two case reports and review of literature. [PDF]

open access: yes, 2019
BackgroundHereditary colon cancer is characterized by the inheritance of an abnormal gene mutation which predisposes to malignancy. Recent advances in genomic medicine have identified mutations in "novel" genes as conferring an increased risk of ...
Ali, Mir   +2 more
core  

BRCA1 or CDK12 loss sensitizes cells to CHK1 inhibitors

open access: yesTumor Biology, 2017
A broad spectrum of tumors develop resistance to classic chemotherapy, necessitating the discovery of new therapies. One successful strategy exploits the synthetic lethality between poly(ADP-ribose) polymerase 1/2 proteins and DNA damage response genes ...
Hana Paculová   +9 more
doaj   +1 more source

Population testing for cancer predisposing BRCA1/BRCA2 mutations [PDF]

open access: yes, 2014
Background: Technological advances raise the possibility of systematic population-based genetic testing for cancer-predisposing mutations, but it is uncertain whether benefits outweigh disadvantages.
Wardle, J
core  

Using a brain-like endothelial cell differentiation to characterize the CS79iBRCA-n2 BRCA1 mutated patient derived stem cell line

open access: yesFrontiers in Cell and Developmental Biology
BRCA1/2 genes are considered tumor suppressor genes and help repair damaged DNA. Pathogenic germline mutations of BRCA1/2 genes are the most common hereditary cause of breast cancer and ovarian cancer.
Natalie G. Alexander   +12 more
doaj   +1 more source

The expression of tumour suppressors and proto-oncogenes in tissues susceptible to their hereditary cancers. [PDF]

open access: yes, 2015
BackgroundStudies of familial cancers have found that only a small subset of tissues are affected by inherited mutations in a given tumour suppressor gene (TSG) or proto-oncogene (POG), even though the mutation is present in all tissues.
Muir, Brian, Nunney, Leonard
core  

Factors Influencing Uptake of Risk-Reducing Salpingo-Oophorectomy by BRCA1 and BRCA2 Mutation Carriers [PDF]

open access: yes, 2016
Germline mutations in the BRCA1 and BRCA2 genes are associated with significantly increased risks for ovarian cancer. The National Comprehensive Cancer Network (NCCN) currently recommends that female BRCA mutation carriers undergo risk-reducing salpingo ...
Breen, Victoria E
core   +1 more source

The Molecular Detection of Germline Mutations in the BRCA1 and BRCA2 Genes Associated with Breast and Ovarian Cancer in a Romanian Cohort of 616 Patients

open access: yesCurrent Issues in Molecular Biology
The objective of this study was to identify and classify the spectrum of mutations found in the BRCA1 and BRCA2 genes associated with breast and ovarian cancer in female patients in Romania.
Liliana-Georgiana Grigore   +4 more
doaj   +1 more source

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer. [PDF]

open access: yes, 2019
Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk.
Aalfs, Cora M   +99 more
core  

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