Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.
Sign Up to like & getrecommendations! Published in 2022 at "JAMA oncology"
DOI: 10.1001/jamaoncol.2022.0476
Abstract: Importance The clinical importance of genetic testing of BRCA1 and BRCA2 in breast, ovarian, prostate, and pancreatic cancers is widely recognized. However, there is insufficient evidence to include other cancer types that are potentially associated… read more here.
Keywords: pathogenic variants; brca1 brca2; cancer; cancer types ... See more keywords
BRCA1 and BRCA2 gene variants and nonsyndromic cleft lip/palate.
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DOI: 10.1002/bdr2.1346
Abstract: BACKGROUND Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a debilitating condition that not only affects the individual, but the entire family. The purpose of this study was to investigate the association of… read more here.
Keywords: brca1 brca2; brca2; cleft lip; nonsyndromic cleft ... See more keywords
Breast cancer in East Africa: Prevalence and spectrum of germline SNV/indel and CNVs in BRCA1 and BRCA2 genes among breast cancer patients in Tanzania
Sign Up to like & getrecommendations! Published in 2022 at "Cancer Medicine"
DOI: 10.1002/cam4.5091
Abstract: Growing prevalence and aggressiveness of breast cancer (BC) among East African women strongly indicate that the genetic risk factor implicated in the etiology of the disease may have a key role. Germline pathogenic variants in… read more here.
Keywords: germline; prevalence; brca1 brca2; breast cancer ... See more keywords
More breast cancer patients could benefit from PARP inhibitors
Sign Up to like & getrecommendations! Published in 2017 at "Cancer"
DOI: 10.1002/cncr.30962
Abstract: 3433 CANCER SEPTEMBER 15, 2017 3 Content in this section does not reflect any official policy or medical opinion of the American Cancer Society or of the publisher unless otherwise noted. © American Cancer Society,… read more here.
Keywords: parp inhibitors; brca1 brca2; breast cancer; cancer ... See more keywords
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23818
Abstract: The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity for multiple cancer syndrome genes. Independent data types currently incorporated in the model for assessing BRCA1 and BRCA2 variants include clinically… read more here.
Keywords: classification; analysis; likelihood; pathogenicity ... See more keywords
The association between smoking and cancer incidence in BRCA1 and BRCA2 mutation carriers
Sign Up to like & getrecommendations! Published in 2018 at "International Journal of Cancer"
DOI: 10.1002/ijc.31257
Abstract: Tobacco smoke is an established carcinogen, but the association between tobacco smoking and cancer risk in BRCA mutation carriers is not clear. The aim of this study was to evaluate prospectively the association between tobacco… read more here.
Keywords: mutation carriers; brca1 brca2; smoking cancer; cancer ... See more keywords
Altered expression of telomere‐associated genes in leukocytes among BRCA1 and BRCA2 carriers
Sign Up to like & getrecommendations! Published in 2018 at "Molecular Carcinogenesis"
DOI: 10.1002/mc.22773
Abstract: Telomere dysfunction resulting from telomere shortening and deregulation of shelterin components has been linked to the pathogenesis of age‐related disorders, including cancer. Recent evidence suggests that BRCA1/2 (BRCA1 and BRCA2) tumor suppressor gene products play… read more here.
Keywords: brca1 brca2; brca1 carriers; expression telomere; telomere associated ... See more keywords
A phase 1 and pharmacodynamic study of chronically-dosed, single-agent veliparib (ABT-888) in patients with BRCA1- or BRCA2-mutated cancer or platinum-refractory ovarian or triple-negative breast cancer
Sign Up to like & getrecommendations! Published in 2022 at "Cancer Chemotherapy and Pharmacology"
DOI: 10.1007/s00280-022-04430-6
Abstract: BRCA1 or BRCA2 mutated cancers (BRCAmut) have intrinsic sensitivity to PARP inhibitors due to deficiency in homologous recombination-mediated DNA repair. There are similarities between BRCAmut and BRCAwt ovarian and basal-like breast cancers. This phase I… read more here.
Keywords: brca1 brca2; cancer; brca2 mutated; bid ... See more keywords
Retesting BRCA1/BRCA2 mutation negative male breast cancer patients using next generation sequencing technologies
Sign Up to like & getrecommendations! Published in 2017 at "Breast Cancer Research and Treatment"
DOI: 10.1007/s10549-017-4108-9
Abstract: We read with great interest the study by Moran and colleagues, entitled ‘‘Revisiting breast cancer patients who previously tested negative for BRCA mutations using a 12gene panel’’ recently published in this journal [1]. Using next… read more here.
Keywords: brca1 brca2; mbc cases; cancer; breast cancer ... See more keywords
Graphene-Coated Optical Fiber SPR Biosensor for BRCA1 and BRCA2 Breast Cancer Biomarker Detection: a Numerical Design-Based Analysis
Sign Up to like & getrecommendations! Published in 2019 at "Photonic Sensors"
DOI: 10.1007/s13320-019-0556-7
Abstract: This paper provides a simple hybrid design and numerical analysis of the graphene-coated fiber-optic surface plasmon resonance (SPR) biosensor for breast cancer gene-1 early onset (BRCA1) and breast cancer gene-2 early onset (BRCA2) genetic breast… read more here.
Keywords: breast; breast cancer; brca1 brca2;
Faulty BRCA1, BRCA2 genes: how poor is the prognosis?
Sign Up to like & getrecommendations! Published in 2017 at "Annals of epidemiology"
DOI: 10.1016/j.annepidem.2017.09.005
Abstract: We take a critical look at the meaning behind the number 87% given to 25-year-old Sophie, a BRCA1 and BRCA2 carrier. Sophie has been told she has an 87% chance of getting breast cancer. She… read more here.
Keywords: brca1 brca2; faulty brca1; brca1; breast cancer ... See more keywords