BRCA1 and BRCA2 Germline Mutations are Frequently Found in a High-Risk Pancreatic Cancer Screening Population: 253Frado, LauraHwang, CarolineKumar, SheilaKhanna, LaurenChung, WendyFrucht, HaroldLucas, AimeeOfficial journal of the American College of Gastroenterology | ACG...
[3]Oh M, Alkhushaym N, Fallatah S, et al. The association of BRCA1 and BRCA2 mutations with prostate cancer risk, frequency, and mortality: A meta-analysis. Prostate. 2019;79(8):880-895. doi:10.1002/pros.23795 [4]Hu C, Hart SN, Polley EC, et al. Association Between Inherited Ge...
通过分析14种癌症患者携带BRCA1/BRCA2致病性突变的频率,研究团队发现,男性乳腺癌患者携带BRCA2致病性突变的频率较高(18.9%);卵巢癌患者携带致病性突变的频率次之,其中4.86%存在BRCA1致病性突变,3.42%存在BRCA2致病性突变。 此外,还有6种癌症类型患者携带致病性突变的频率超过1%,其中2种携带BRCA1致病性突变,4种携带BRCA2...
BRCA1andBRCA2are tumor suppressor genes that are involved in cell growth inhibition, apoptosis, regulation of gene transcription and DNA damage repair through homologous recombination.1Thus, germ line mutations inBRCAgenes are considered to be associated with cancer susceptibility, especially with an inc...
In this scenario, the mutations are not inherited and they do not cluster in families. In hereditary breast cancer, the specific genetic factors involved will determine the inherited cancer risk. Inherited mutations in the BRCA1 or BRCA2 genes have been well-described, but mutations in ATM, ...
时至今日,我们都知道携带BRCA1和BRCA2基因突变的人群患乳腺癌和卵巢癌的风险增加,且BRCA1和BRCA2突变携带者患乳腺癌的风险与被诊断为乳腺癌的近亲数量呈正相关[2]。 随着对这两个基因研究的深入,人们发现在前列腺癌和胰腺癌中,BRCA1和BRCA2致病性突变频率也增加,因此与这两个基因有关的癌症类型进一步扩展[3-4]...
Abnormalities (mutations) in two genes -- BRCA1 and BRCA2 - are the most common causes of hereditary breastcancer, accounting for about 20% to 25% of cases. Usually, BRCA genes help to prevent cancer by creating proteins that keep cells from growing abnormally. If you inherit a mutated BR...
BRCA1 and BRCA2 are the two principal hereditary breast cancer susceptibility genes, and the prevalence of their mutations among Brazilian women is unknown. The objective was to detect BRCA1 and BRCA2 mutations in Brazilian patients with... Rozany Mucha Dufloth,Sílvia Carvalho,JK Heinrich,......
Two highly penetrant genes that confer greatly increased risk of both breast and ovarian cancer have thus far been identified; BRCA1 and BRCA2 which confer a 40% and 15% lifetime risk of ovarian cancer, respectively [5., 6., 7., 8., 9.]. Germline mutations in BRCA1 or BRCA2 have ...
mutations inBRCA2are associated with superior response compared to those inBRCA1. Mutations inBRCA1andBRCA2result in distinct mutational landscapes and differentially modulate the tumor-immune microenvironment, with gene expression programs related to both adaptive and innate immunity enriched inBRCA2-...