Mutation Analysis for BRIP1 in Korean Patients with BRCA1/2 Mutations-Negative High-Risk Breast Cancer

Kim, H.; Cho, D.; Choi, Dong Il; Park, W.; Huh, Seung Jae

doi:10.1093/annonc/mdu065.7

Cited by 2 publications

(3 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…A recent study among Korean patients identified one novel truncating mutation (1018C > T) in one patient, while 8 missense mutations were observed in 15 individuals (32). Among the missense mutations, 5 (787C > T, 1421T > C, 1442G > A, 2543G > A, and 2854A > G) were novel and 3 (430G > A, 587A > G, and 2830C > G) were known to be previously described (32).…”

Section: Physiological Functions Of Brip1 In Breast Cancermentioning

confidence: 99%

BRIP1 a potential candidate gene in development of non-BRCA1 2 breast cancer

2016

View full text Add to dashboard Cite

BRIP1 encodes a protein belonging to the RecQ DEAH helicase family. It interacts with BRCA1, and is involved in the repair of DNA damage and tumor suppression. Aberrations in BRIP1 have been mainly associated with the development of breast cancer (BC), ovarian cancer, and type J Fanconi anemia. Based on recent work, we hypothesize that BRIP1 might be the gene involved in the onset of BC in families that do not show BRACA1/2 mutations. This review will focus on the findings supporting this hypothesis, the mechanisms linking BRIP1 to the onset of BC, and the potential clinical relevance of its various inhibitors.

show abstract

Section: Physiological Functions Of Brip1 In Breast Cancermentioning

confidence: 99%

BRIP1 a potential candidate gene in development of non-BRCA1 2 breast cancer

2016

View full text Add to dashboard Cite

show abstract

“…These results suggested that BRIP1 c.89A>C, c.736A>G and c. 2131A>G might be pathogenic mutations (Table ). Interestingly, other novel and functionally deleterious variants of BRIP1 , which have not been reported in studies, including patients from Western countries, were also identified in Korean and Chinese populations . Therefore, BRIP1 mutation status in not only Japanese, but also Asian familial breast cancer cases, might be different from that in Western countries.…”

Section: Discussionmentioning

confidence: 93%

“…Interestingly, other novel and functionally deleterious variants of BRIP1, which have not been reported in studies, including patients from Western countries, were also identified in Korean and Chinese populations. (47,48) Therefore, BRIP1 mutation status in not only Japanese, but also Asian familial breast cancer cases, might be different from that in Western countries. Similar to BRIP1 mutation, we found that carrier frequency of PALB2 deleterious mutation also differed from that in Western populations.…”

Section: Discussionmentioning

confidence: 99%

Mutation status of RAD51C,PALB2 and BRIP1 in 100 Japanese familial breast cancer cases without BRCA1 and BRCA2 mutations

et al. 2017

View full text Add to dashboard Cite

In addition to BRCA1 and BRCA2, RAD51C,PALB2 and BRIP1 are known as breast cancer susceptibility genes. However, the mutation status of these genes in Japanese familial breast cancer cases has not yet been evaluated. To this end, we analyzed the exon sequence and genomic rearrangement of RAD51C,PALB2 and BRIP1 in 100 Japanese patients diagnosed with familial breast and ovarian cancer and without BRCA1 and BRCA2 mutations. We detected a large deletion from exons 6 to 9 in RAD51C, 4 novel BRIP1 missense variants containing 3 novel non‐synonymous variants, c.89A>C, c.736A>G and c.2131A>G, and a splice donor site variant c.918+2T>C. No deleterious variant of PALB2 was detected. The results of pedigree analysis showed that the proband with a large deletion on RAD51C had a family history of both breast and ovarian cancer, and the families of probands with novel BRIP1 missense variants included a male patient with breast cancer or many patients with breast cancer within the second‐degree relatives. We showed that the mutation frequency of RAD51C in Japanese familial breast cancer cases was similar to that in Western countries and that the prevalence of deleterious mutation of PALB2 was possibly lower. Furthermore, our results suggested that BRIP1 mutation frequency in Japan might differ from that in Western countries.

show abstract

Mutation Analysis for BRIP1 in Korean Patients with BRCA1/2 Mutations-Negative High-Risk Breast Cancer

Cited by 2 publications

References 0 publications

BRIP1 a potential candidate gene in development of non-BRCA1 2 breast cancer

BRIP1 a potential candidate gene in development of non-BRCA1 2 breast cancer

Mutation status of RAD51C,PALB2 and BRIP1 in 100 Japanese familial breast cancer cases without BRCA1 and BRCA2 mutations

Contact Info

Product

Resources

About