Human MutationKwiatkowska E, Teresiak M, Lamperska KM, Karczewska A, Breborowicz D, Stawicka M, Godlewski D, Krzyzosiak WJ, Mackiewicz A. BRCA2 germ-line mutations in male breast cancer patients in the polish population. Hum Mutat 2001;17:73....
Three of eleven individuals carry the same mutation, all are of Ashkenazi Jewish descent, supporting the observation by Neuhausen et al, in this issue4 that there is a common mutation in this population. Eleven truncating mutations and nine polymorphisms were identified — all were coding region ...
作为Basser中心Men and BRCA项目主任,以及美国宾夕法尼亚大学佩雷尔曼医学院的副教授,Maxwell博士讨论了为携带BRCA1和BRCA2胚系突变的男性定制筛查指南和风险降低策略的必要性。她解释了男性中BRCA胚系突变的存在与某些类型癌症风险增加之间的关联,并探讨了男性群体中基因检测率的差异及其原因。 OncLive:为什么需要在男性...
Related to BRCA2:BRCA1 FAD abbr. flavin adenine dinucleotide fad (făd) n. A fashion that is taken up with great enthusiasm for a brief period of time; a craze. [Possibly fromfidfad,fussy person, fussy, fromfiddle-faddle.] fad′dismn. ...
Germ-line mutations in BRCA1 and BRCA2 genes result in a significantly increased risk of breast and ovarian cancer. Other genes involved in an increased pr... E Grzybowska,H Zientek,A Jasinska,... - 《Human Mutation》 被引量: 107发表: 2000年 Germline BRCA2 mutations in men with breast ...
Moreover, 0.56% of monoallelic PVs were present in MUTYH, a gene whose function in tumorigenesis in the context of PCa is still unclear. Finally, we reported double heterozygosity (DH) in BRCA1/2 genes in a single family, and found double mutation (DM) present in BRCA2 in a separate ...
Mutation carriers may be offered a different screening and diagnosis regimen than men in the general population [25]. We performed further analyses to assess the potential impact of such differential screening. First, we performed landmark analyses where follow-up was initiated at 6 or 12 mo afte...
A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes The BRCA2 gene on chromosome 13 has been shown to be associated with familial male and female breast cancer. Here we describe a study on BRCA2 in 21 Icelan... S Thorlacius,G Olaf...
Dramatic, durable response to therapy in gBRCA2-mutated pancreas neuroendocrine carcinoma: opportunity and challenge Fergus Keane Raazi Bajwa Eileen M. O’Reilly npj Precision Oncology(2023) Sections Figures References Advertisement Nature Cancer (Nat Cancer)ISSN2662-1347(online) ...
20、idarsdóttir l,thorgeirsson t,et al.prostate cancer progression and survival in brca2 mutation carriersj.jnci journal of the national cancer institute,2007,99(12):929-935.9 thorne h,willems a j,niedermayr e,et al.decreased prostate cancer-specific survival of men with brca2 mutations from...