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...
This cohort study estimates age-specific risks of breast, ovarian, and contralateral breast cancer among carriers of BRCA1 and BRCA2 mutations and
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...
[8]Ko JM, Ning L, Zhao XK, et al. BRCA2 loss-of-function germline mutations are associated with esophageal squamous cell carcinoma risk in Chinese. Int J Cancer. 2020;146(4):1042-1051. doi:10.1002/ijc.32619 [9]Momozawa Y, Sasai R, Usui Y, et al. Expansion of Cancer Risk Profile...
A mutation was seen in 33.9% of women with a first-degree relative with breast or ovarian cancer and in 7.9% of women with no first-degree relative with breast or ovarian cancer. No mutation was seen in women with mucinous carcinoma. Conclusions BRCA1 and BRCA2 mutations are common in ...
尽管中国乳腺癌BRCA1/2突变频率与欧美人群整体突变频率相当,但不同于欧美人群中BRCA1突变频率高于BRCA2,中国乳腺癌BRCA2突变频率明显高于BRCA1,约为BRCA1的1.8倍[2]。更重要的是,国内多个研究数据显示,中国BRCA1/2突变谱与欧美人群存...
Objective: Female carriers of BRCA1/BRCA2 mutations (BRCAm) are at increased risk of developing breast and ovarian cancer. The main prevention options currently available consist in either clinical-radiological surveillance or risk-reducing surgery. This study investigated factors which might influence ...
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, ...
R. et al. Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N. Engl. J. Med. 346, 1616–1622 (2002). PubMed Google Scholar Rebbeck, T. R. et al. Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study ...