Cargando…

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

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 of BRCA1: c.190T>C (p.Cys64Arg), 1307delT,...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kour, Akeen, Sambyal, Vasudha, Guleria, Kamlesh, Singh, Neeti Rajan, Uppal, Manjit Singh, Manjari, Mridu, Sudan, Meena
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Sociedade Brasileira de Genética 2020
Materias:	Human and Medical Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7250277/ https://www.ncbi.nlm.nih.gov/pubmed/32453341 http://dx.doi.org/10.1590/1678-4685-GMB-2019-0014

Ejemplares similares

In silico pathway analysis based on chromosomal instability in breast cancer patients
por: Kour, Akeen, et al.
Publicado: (2020)

Risk Factor Analysis for Breast Cancer in Premenopausal and Postmenopausal Women of Punjab, India
por: Kour, Akeen, et al.
Publicado: (2019)

Association of XRCC1, XRCC2 and XRCC3 Gene Polymorphism with Esophageal Cancer Risk
por: Kaur, Jagjeet, et al.
Publicado: (2020)

Association of VEGF haplotypes with breast cancer risk in North-West Indians
por: Sambyal, Vasudha, et al.
Publicado: (2021)

Association of VEGF -2549 I/D and VEGF +936 C/T Polymorphisms with Chronic Kidney Disease in North-West Indian Patients
por: Tung, Gurleen Kaur, et al.
Publicado: (2022)

One Base Deletion (c.2422delT) in the TPO Gene Causes Severe Congenital Hypothyroidism
por: Cangül, Hakan, et al.
Publicado: (2014)

Hyaline fibromatosis syndrome with mutation c.1074delT of the CMG2 gene: a case report
por: Cherkaoui Jaouad, Imane, et al.
Publicado: (2014)

Candidate genes for infertility: an in-silico study based on cytogenetic analysis
por: Sahota, Jatinder Singh, et al.
Publicado: (2022)

d(CGGTGGT) forms an octameric parallel G-quadruplex via stacking of unusual G(:C):G(:C):G(:C):G(:C) octads
por: Borbone, Nicola, et al.
Publicado: (2011)

Protein S gene mutation c.946C > T (p.R316C) contributed to ischemic stroke in a man with von Willebrand disease type 3 caused by two novel VWF gene mutations, c.2328delT (p.A778Lfs* 23) and c.6521G > T (p.C2174F)
por: Hua, Baolai, et al.
Publicado: (2022)

Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease
por: Li, Wenjie, et al.
Publicado: (2018)

Two children with hypophosphatasia with a heterozygous c.1559delT variant in the ALPL gene, the most common variant in Japanese populations
por: Kitoh, Hiroshi, et al.
Publicado: (2022)

B C G
por: Purser, Honor M.
Publicado: (1950)

A Compound Mutation (c.953C<G and c.49G<A) Aggravates Functional Impairments of C1-INH in Hep G2 Cells
por: Xu, Ying-Yang, et al.
Publicado: (2018)

1307. The Mycoplasma Conundrum
por: Rand, Kenneth
Publicado: (2021)

The requirement of glycoprotein C (gC) for interindividual spread is a conserved function of gC for avian herpesviruses
por: Vega-Rodriguez, Widaliz, et al.
Publicado: (2021)

Bohring-Opitz syndrome caused by a novel ASXL1 mutation (c.3762delT) in an IVF baby: A case report
por: Wang, Dongbo, et al.
Publicado: (2022)

Medium-modifications of $g\to c \bar{c}$ splitting
por: Park, Sohyun
Publicado: (2023)

To G. M. Burrows, Esq. Chairman of the Committee of Apothecaries, &c. &c. &c.
Publicado: (1813)

B.C.G. Vaccine
por: Thakkar, K. V.
Publicado: (1949)

D. G. C. Tasker
Publicado: (1968)

Dr. C. G. Davis
Publicado: (1852)

B.C.G. Vaccination
por: Gemmill, J. S.
Publicado: (1951)

Evaluation of the need for routine clinical testing of PALB2 c.1592delT mutation in BRCA negative Northern Finnish breast cancer families
por: Haanpää, Maria, et al.
Publicado: (2013)

Thalassemia intermedia phenotype resulting from rare combination of c.46delT [Codon15 (‐T)] mutation of beta globin gene and HPFH3
por: Kelkar, Anjali J., et al.
Publicado: (2017)

IL-6-174 G/C and -572 C/G Polymorphisms and Risk of Alzheimer’s Disease
por: Qi, Hui-Ping, et al.
Publicado: (2012)

Case Report: Characterization of known (c.607G>C) and novel (c.416C>G) ELANE mutations in two Mexican families with congenital neutropenia
por: Núñez-Núñez, María Enriqueta, et al.
Publicado: (2023)

Interleukin-6 -634 C/G and -174 G/C Polymorphisms in Korean Patients Undergoing Hemodialysis
por: Ryu, Jung-Hwa, et al.
Publicado: (2012)

Self-association of short DNA loops through minor groove C:G:G:C tetrads
por: Viladoms, Júlia, et al.
Publicado: (2009)

Heterozygous PALB2 c.1592delT mutation channels DNA double-strand break repair into error-prone pathways in breast cancer patients
por: Obermeier, K, et al.
Publicado: (2016)

The development of drug resistance mutations K103N Y181C and G190A in long term Nevirapine-containing antiviral therapy
por: Wang, Yuncong, et al.
Publicado: (2014)

C. G. Jung : su mito en nuestro tiempo
por: Franz, Marie-Luise von, 1915-1998
Publicado: (1982)

B C G Vaccination in Stockholm
por: Dickie, A. W.
Publicado: (1950)

B.C.G. AND VOLE VACCINATION
Publicado: (1954)

The A's, G's, C's, and T's of health disparities
por: Ramos, Edward, et al.
Publicado: (2009)

The A, C, G, and T of Genome Assembly
por: Wajid, Bilal, et al.
Publicado: (2016)

B. C. G. Vaccination in Practice
por: Negre, L., et al.
Publicado: (1938)

Diseases of the Fingers: G.—The Skin, &c.
Publicado: (1891)

Dr. Phineas G. C. Hunt
Publicado: (1896)

Effect of a c-MYC Gene Polymorphism (g.3350G>C) on Meat Quality Traits in Berkshire
por: Oh, J. D., et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_9f0efn19du3rnq2mnar8gme5hv