Results 61 to 70 of about 78,404 (143)

Screening of BRCA1 variants c.190T>C, 1307delT, g.5331G>A and c.2612C>T in breast cancer patients from North India

Genetics and Molecular Biology
The polymorphic variants of BRCA1, which lead to amino acid substitutions, have a known pathogenic role in breast cancer. The present study investigated in North Indian breast cancer patients the association of risk with four reported pathogenic variants
Akeen Kour, Vasudha Sambyal, Kamlesh Guleria, Neeti Rajan Singh, Manjit Singh Uppal, Mridu Manjari, Meena Sudan   +6 more
doaj   +1 more source

Novel associations between BRCA1 variants c.181 t>g (rs28897672) and ovarian cancer risk in Saudi females [PDF]

Journal of Medical Biochemistry, 2019
Background: Mutations in BRCA1 gene have been implicated in ovarian cancers, and BRCA testing may be conducted in high-risk women. This study was designed to determine the frequency of three single nucleotide polymorphisms (SNPs) variants in BRCA1 gene ...
Alyahr Nora, Abdi Saba, Khan Wajahatullah, Elrobh Mohamed, Addar Mohammed H., Babay Zeneb A., Alanaz Mohamed, Aldaihan Sooad, Shaik Jilani, Arafah Maha, Reddy-Parine Narasimha, Warsy Arjumand   +11 more
doaj  

Age of natural menopause onset in BRCA1/2 carriers – systematic review and meta-analysis

Menopause Review, 2021
Łukasz Kępczyński, Katarzyna Połatyńska, Anna Nykel, Jordan Sałamunia, Tadeusz Kałużewski, Andrzej Kużawczyk, Agnieszka Gach   +6 more
doaj   +1 more source

Integrating breast tumour homologous recombination deficiency status to aid germline BRCA1 and BRCA2 variant classification. [PDF]

EBioMedicine
Fortuno C, Zhang J, Koufariotis LT, Hollway G, Wood S, Pearson JV, Simpson PT, Lakhani SR, McCart Reed AE, Thorne H, Mann GB, Skandarajah AR, Devereux L, Zhao Q, De Silva DL, Lindeman GJ, Waring P, James PA, Campbell I, Spurdle AB, Waddell N.   +20 more
europepmc   +1 more source

Breaking down BRCA1 [PDF]

Nature Genetics, 1994
openaire   +2 more sources

Conditional in vivo deletion of LYN kinase has little effect on a BRCA1 loss-of-function-associated mammary tumour model

Disease Models & Mechanisms
Giusy Tornillo, Lauren Warrington, Howard Kendrick, Adam T. Higgins, Trevor Hay, Sam Beck, Matthew J. Smalley   +6 more
doaj   +1 more source

Cryptic redundancy between PAR1b and PAR1a, two members of the PAR1 kinase family, in the survival of PAR1b-knockout mice. [PDF]

Sci Rep
Murata-Kamiya N, Del Valle Lazarte AA, Kikuchi I, Hatakeyama M.   +3 more
europepmc   +1 more source

Risk of Breast and Ovarian Cancer After Prophylactic Mastectomy and Salpingo-Oophorectomy in BRCA1/2 Germline Variant Carriers: A Retrospective Cohort Study From a Single German Center. [PDF]

Cancer Med
Mendes S, Yahiaoui-Doktor M, Fallenberg EM, Kiechle M, Grill S.   +4 more
europepmc   +1 more source

Prevalence of <i>BRCA1</i> Promoter Methylation in Cohorts of Individuals With and Without Cancer Assessed by Circulating Cell-Free DNA. [PDF]

JCO Precis Oncol
Liu ET, Antonio M, Nance T, Menghi F.
europepmc   +1 more source

Constitutional BRCA1 Methylation is associated with high level of tumoral BRCA1 methylation and homologous recombination deficiency in triple-negative breast cancer. [PDF]

NPJ Breast Cancer
Pasanisi J, Lamy C, Lecompte L, Vacher S, Schwartz M, Hamza A, Caputo SM, Ibadioune S, Courtois L, Berger F, Cockenpot V, Baulande S, Pierga JY, Callens C, Melaabi S, Colas C, Pasmant E, Kamal M, Dupain C, Servant N, Le Tourneau C, Bièche I.   +21 more
europepmc   +1 more source