PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo

Genetics in Medicine

Volumn 16, Issue 9, 2014, Pages 688-694

  Catucci, Irene ^a,b   Peterlongo, Paolo ^a,b   Ciceri, Sara ^a,b   Colombo, Mara ^b   Pasquini, Graziella ^b   Barile, Monica ^c   Bonanni, Bernardo ^c   Verderio, Paolo ^b   Pizzamiglio, Sara ^b   Foglia, Claudia ^d   Falanga, Anna ^d   Marchetti, Marina ^e   Galastri, Laura ^e   Bianchi, Tiziana ^d   Corna, Chiara ^b   Ravagnani, Fernando ^c   Bernard, Loris ^a   Fortuzzi, Stefano ^a   Sardella, Domenico ^b   Scuvera, Giulietta ^b   Peissel, Bernard ^b   Manoukian, Siranoush ^d   Tondini, Carlo ^b   Radice, Paolo ^b   more..

^a FIRC INSTITUTE OF MOLECULAR ONCOLOGY   (Italy)

^b NATIONAL CANCER INSTITUTE   (Italy)

^c EUROPEAN INSTITUTE OF ONCOLOGY   (Italy)

^d Azienda Ospedaliera Papa Giovanni XXIII   (Italy)

^e Associazione Volontari Italiani Sangue Comunale   (Italy)

Author keywords

association study; breast cancer risk; familial breast cancer cases; PALB2; recurrent mutation

Indexed keywords

ARTICLE; BREAST CANCER; CANCER RISK; CANCER SUSCEPTIBILITY; CONTROLLED STUDY; FAMILIAL CANCER; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GERMLINE MUTATION; HIGH RISK POPULATION; HUMAN; ITALIAN (CITIZEN); ITALY; PALB2 GENE; PENETRANCE; ALLELE; BREAST NEOPLASMS; CASE CONTROL STUDY; CAUCASIAN; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; MUTATION; NUCLEOTIDE SEQUENCE;

NUCLEAR PROTEIN; PALB2 PROTEIN, HUMAN; TUMOR SUPPRESSOR PROTEIN;

ALLELES; BREAST NEOPLASMS; CASE-CONTROL STUDIES; DNA MUTATIONAL ANALYSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; ITALY; MUTATION; NUCLEAR PROTEINS; POLYMORPHISM, GENETIC; TUMOR SUPPRESSOR PROTEINS;

EID: 84901706095     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2014.13     Document Type: Article

References (36)

1. Michailidou K, Hall P, Gonzalez-Neira A, et al. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet 2013;45:353-361.
2. Mavaddat N, Antoniou AC, Easton DF, Garcia-Closas M. Genetic susceptibility to breast cancer. Mol Oncol 2010;4:174-191.
3. Meijers-Heijboer H, van den Ouweland A, Klijn J, et al.; CHEK2-Breast Cancer Consortium. Low-penetrance susceptibility to breast cancer due to CHEK2(∗)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 2002;31:55-59.
4. Renwick A, Thompson D, Seal S, et al.; Breast Cancer Susceptibility Collaboration (UK). ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet 2006;38:873-875.
5. Howlett NG, Taniguchi T, Olson S, et al. Biallelic inactivation of BRCA2 in Fanconi anemia. Science 2002;297:606-609.
6. Seal S, Thompson D, Renwick A, et al.; Breast Cancer Susceptibility Collaboration (UK). Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet 2006;38:1239-1241.
7. Rahman N, Seal S, Thompson D, et al.; Breast Cancer Susceptibility Collaboration (UK). PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet 2007;39:165-167.
8. Meindl A, Hellebrand H, Wiek C, et al. Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet 2010;42:410-414.
9. Loveday C, Turnbull C, Ruark E, et al.; Breast Cancer Susceptibility Collaboration (UK). Germline RAD51C mutations confer susceptibility to ovarian cancer. Nat Genet 2012;44:475-6; author reply 476.
10. Garca MJ, Fernndez V, Osorio A, et al. Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families. Breast Cancer Res Treat 2009;113:545-551.
11. Landwehr R, Bogdanova NV, Antonenkova N, et al. Mutation analysis of the SLX4/FANCP gene in hereditary breast cancer. Breast Cancer Res Treat 2011;130:1021-1028.
12. Catucci I, Colombo M, Verderio P, et al. Sequencing analysis of SLX4/FANCP gene in Italian familial breast cancer cases. PLoS ONE 2012;7:e31038.
13. Fernndez-Rodrguez J, Quiles F, Blanco I, et al. Analysis of SLX4/FANCP in non- BRCA1/2-mutated breast cancer families. BMC Cancer 2012;12:84.
14. Bakker JL, van Mil SE, Crossan G, et al. Analysis of the novel fanconi anemia gene SLX4/FANCP in familial breast cancer cases. Hum Mutat 2013;34:70-73.
15. Shah S, Kim Y, Ostrovnaya I, et al. Assessment of SLX4 Mutations in Hereditary Breast Cancers. PLoS ONE 2013;8:e66961.
16. de Garibay GR, Daz A, Gavia B, et al. Low prevalence of SLX4 loss-of-function mutations in non-BRCA1/2 breast and/or ovarian cancer families. Eur J Hum Genet 2013;21:883-886.
17. Gracia-Aznarez FJ, Fernandez V, Pita G, et al. Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles. PLoS ONE 2013;8:e55681.
18. Park DJ, Lesueur F, Nguyen-Dumont T, et al.; Breast Cancer Family Registry; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer. Rare mutations in XRCC2 increase the risk of breast cancer. Am J Hum Genet 2012;90:734-739.
19. Hilbers FS, Wijnen JT, Hoogerbrugge N, et al. Rare variants in XRCC2 as breast cancer susceptibility alleles. J Med Genet 2012;49:618-620.
20. Southey MC, Teo ZL, Winship I. PALB2 and breast cancer: ready for clinical translation! Appl Clin Genet 2013;6:43-52.
21. Blanco A, de la Hoya M, Balmaa J, et al. Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer. Breast Cancer Res Treat 2012;132:307-315.
22. Pern F, Bogdanova N, Schrmann P, et al. Mutation analysis of BRCA1, BRCA2, PALB2 and BRD7 in a hospital-based series of German patients with triplenegative breast cancer. PLoS ONE 2012;7:e47993.
23. Phuah SY, Lee SY, Kang P, et al. Prevalence of PALB2 mutations in breast cancer patients in multi-ethnic Asian population in Malaysia and Singapore. PLoS ONE 2013;8:e73638.
24. Hellebrand H, Sutter C, Honisch E, et al. Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer. Hum Mutat 2011;32:E2176-E2188.
25. Southey MC, Teo ZL, Dowty JG, et al.; kConFab for the Beast Cancer Family Registry. A PALB2 mutation associated with high risk of breast cancer. Breast Cancer Res 2010;12:R109.
26. Tischkowitz M, Capanu M, Sabbaghian N, et al.; WECARE Study Collaborative Group. Rare germline mutations in PALB2 and breast cancer risk: a populationbased study. Hum Mutat 2012;33:674-680.
27. Casadei S, Norquist BM, Walsh T, et al. Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. Cancer Res 2011;71:2222-2229.
28. Catucci I, Milgrom R, Kushnir A, et al. Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families. Fam Cancer 2012;11:483-491.
29. Erkko H, Xia B, Nikkil J, et al. A recurrent mutation in PALB2 in Finnish cancer families. Nature 2007;446:316-319.
30. Heikkinen T, Krkkinen H, Aaltonen K, et al. The breast cancer susceptibility mutation PALB2 1592delT is associated with an aggressive tumor phenotype. Clin Cancer Res 2009;15:3214-3222.
31. Ghadirian P, Robidoux A, Zhang P, et al. The contribution of founder mutations to early-onset breast cancer in French-Canadian women. Clin Genet 2009;76:421-426.
32. Dansonka-Mieszkowska A, Kluska A, Moes J, et al. A novel germline PALB2 deletion in Polish breast and ovarian cancer patients. BMC Med Genet 2010;11:20.
33. Teo ZL, Sawyer SD, James PA, et al. The incidence of PALB2 c.3113G>A in women with a strong family history of breast and ovarian cancer attending familial cancer centres in Australia. Fam Cancer 2013;12:587-595.
34. Reid S, Schindler D, Hanenberg H, et al. Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. Nat Genet 2007;39:162-164.
35. Colombo M, De Vecchi G, Caleca L, et al. Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations. PLoS ONE 2013;8:e57173.
36. Peterlongo P, Catucci I, Pasquini G, et al. PALB2 germline mutations in familial breast cancer cases with personal and family history of pancreatic cancer. Breast Cancer Res Treat 2011;126:825-828.