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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2019.1
- 수록면
- 992 - 1,000 (9page)
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Purpose Partner and localizer of BRCA2 (PALB2) is a breast cancer susceptibility gene that plays an important role in DNA repair. This is the first study assessing the prevalence of PALB2 mutations in early-onset and familial breast/ovarian cancer patients from Pakistan. Materials and Methods PALB2 mutation screening was performed in 370 Pakistani patients with early-onset and familial breast/ovarian cancer, who were negative for BRCA1, BRCA2, TP53, CHEK2, and RAD51C mutations, using denaturing high-performance liquid chromatography analysis. Mutations were confirmed by DNA sequencing. Novel PALB2 alterations were analyzed for their potential effect on protein function or splicing using various in silico prediction tools. Three-hundred and seventy-two healthy controls were screened for the presence of the identified (potentially) functional mutations. Results A novel nonsense mutation, p.Y743*, was identified in one familial breast cancer patient (1/127, 0.8%). Besides, four in silico-predicted potentially functional mutations including three missense mutations and one 5' untranslated region mutation were identified: p.D498Y, novel p.G644R, novel p.E744K, and novel c.-134_-133delTCinsGGGT. The mutations p.Y743* and p.D498Y were identified in two familial patients diagnosed with unilateral or synchronous bilateral breast cancer at the ages of 29 and 39, respectively. The other mutations were identified in an early-onset (! 30 years of age) breast cancer patient each. All five mutations were absent in 372 healthy controls suggesting that they are disease associated. Conclusion Our findings show that PALB2 mutations account for a small proportion of early-onset and hereditary breast/ovarian cancer cases in Pakistan.
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참고문헌 (53)
참고문헌 신청
Xia B / 2006 / Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2 / Mol Cell 22:719~729
Howlett NG / 2002 / Biallelic inactivation of BRCA2 in Fanconi anemia / Science 297:606~609
Rahman N / 2007 / PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene / Nat Genet 39:165~167
Antoniou AC / 2014 / Breast-cancer risk in families with mutations in PALB2 / N Engl J Med 371:497~506
Erkko H / 2007 / A recurrent mutation in PALB2 in Finnish cancer families / Nature 446:316~319
Howlett NG / 2002 / Biallelic inactivation of BRCA2 in Fanconi anemia / Science 297:606~609
Rahman N / 2007 / PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene / Nat Genet 39:165~167
Antoniou AC / 2014 / Breast-cancer risk in families with mutations in PALB2 / N Engl J Med 371:497~506
Erkko H / 2007 / A recurrent mutation in PALB2 in Finnish cancer families / Nature 446:316~319
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