PALB2 sequence variants in young South African breast cancer patients - PubMed (original) (raw)

PALB2 sequence variants in young South African breast cancer patients

Michelle Sluiter et al. Fam Cancer. 2009.

Abstract

PALB2 (partner and localizer of BRCA2) is a recently identified breast cancer susceptibility gene, in which mutations confer doubling of breast cancer risk with moderate to low penetrance. Recent studies in various populations report that deleterious mutations in this gene account for approximately 1% of familial or early-onset breast cancer cases. This study aimed to determine the involvement of PALB2 mutations in a cohort of 48 young (29-45 years) South African breast cancer patients unselected for family history of breast cancer. The complete coding region and intron-exon boundaries of PALB2 were analyzed. A novel truncating mutation, c.697delG (V233fs) was identified in one patient. A missense variant (E211G), identified in another patient, appears to be segregating with the disease, but in silico analysis using SIFT, PolyPhen and A-GVGD, indicates that this variant is nonpathogenic. In addition, four other missense, one synonymous and three intronic variants were detected, all of which appear polymorphic. This represents the second study to analyze the role of PALB2 in early-onset breast cancer patients unselected for family history. The first study, of a Chinese population, established that PALB2 was responsible for 1.3% of early-onset breast cancer cases. Our study reports that deleterious mutations in PALB2 account for approximately 2% (1/48) of South African early-onset breast cancer.

PubMed Disclaimer

Cited by

PALB2 mutations in German and Russian patients with bilateral breast cancer.
Bogdanova N, Sokolenko AP, Iyevleva AG, Abysheva SN, Blaut M, Bremer M, Christiansen H, Rave-Fränk M, Dörk T, Imyanitov EN. Bogdanova N, et al. Breast Cancer Res Treat. 2011 Apr;126(2):545-50. doi: 10.1007/s10549-010-1290-4. Epub 2010 Dec 17. Breast Cancer Res Treat. 2011. PMID: 21165770 Free PMC article.
BRCA1, BRCA2 and PALB2 mutations and CHEK2 c.1100delC in different South African ethnic groups diagnosed with premenopausal and/or triple negative breast cancer.
Francies FZ, Wainstein T, De Leeneer K, Cairns A, Murdoch M, Nietz S, Cubasch H, Poppe B, Van Maerken T, Crombez B, Coene I, Kerr R, Slabbert JP, Vral A, Krause A, Baeyens A, Claes KB. Francies FZ, et al. BMC Cancer. 2015 Nov 17;15:912. doi: 10.1186/s12885-015-1913-6. BMC Cancer. 2015. PMID: 26577449 Free PMC article.
Association of PALB2 sequence variants with the risk of familial and early-onset breast cancer in a South-American population.
Leyton Y, Gonzalez-Hormazabal P, Blanco R, Bravo T, Fernandez-Ramires R, Morales S, Landeros N, Reyes JM, Peralta O, Tapia JC, Gomez F, Waugh E, Ibañez G, Pakomio J, Grau G, Jara L. Leyton Y, et al. BMC Cancer. 2015 Jan 31;15:30. doi: 10.1186/s12885-015-1033-3. BMC Cancer. 2015. PMID: 25636233 Free PMC article.
Assessment of PALB2 as a candidate melanoma susceptibility gene.
Aoude LG, Xu M, Zhao ZZ, Kovacs M, Palmer JM, Johansson P, Symmons J, Trent JM, Martin NG, Montgomery GW, Brown KM, Hayward NK. Aoude LG, et al. PLoS One. 2014 Jun 20;9(6):e100683. doi: 10.1371/journal.pone.0100683. eCollection 2014. PLoS One. 2014. PMID: 24949998 Free PMC article.
Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families.
Catucci I, Milgrom R, Kushnir A, Laitman Y, Paluch-Shimon S, Volorio S, Ficarazzi F, Bernard L, Radice P, Friedman E, Peterlongo P. Catucci I, et al. Fam Cancer. 2012 Sep;11(3):483-91. doi: 10.1007/s10689-012-9540-8. Fam Cancer. 2012. PMID: 22692731

References

1. Int J Cancer. 2004 Jul 10;110(5):677-82 - PubMed
1. Nature. 2007 Mar 15;446(7133):316-9 - PubMed
1. Hum Mutat. 2008 Nov;29(11):1327-36 - PubMed
1. BMC Cancer. 2008 Sep 11;8:257 - PubMed
1. Nature. 1995 Dec 21-28;378(6559):789-92 - PubMed

PALB2 sequence variants in young South African breast cancer patients - PubMed (original) (raw)