About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants

International Journal of Cancer

Volumn 134, Issue 9, 2014, Pages 2088-2097

  Gutiérrez Enríquez, Sara ^a   Bonache, Sandra ^a,b   Ruíz De Garibay, Gorka ^c   Osorio, Ana ^d,e   Santamariña, Marta ^f   Ramõn Y Cajal, Teresa ^g   Esteban Cardeñosa, Eva ^h   Tenés, Anna ^a   Yanowsky, Kira ^d,e   Barroso, Alicia ^d,e   Montalban, Gemma ^a   Blanco, Ana ^e   Cornet, Mònica ^g   Gadea, Neus ⁱ   Infante, Mar ^h   Caldés, Trinidad ^c   Díaz Rubio, Eduardo ^c   Balmaña, Judith ⁱ   Lasa, Adriana ^g   Vega, Ana ^e   Benítez, Javier ^d,e   De La Hoya, Miguel ^c   Diez, Orland ^a,b,i   more..

^a VALL D HEBRON UNIVERSITY HOSPITAL   (Spain)

^b UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^c HOSPITAL CLÍNICO SAN CARLOS   (Spain)

^d Structural Biology and Biocomputing Programme   (Spain)

^e CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^f UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

^g HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^h University of Valladolid   (Spain)

ⁱ HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

Author keywords

familial breast and ovarian cancer; genetic predisposition; RAD51D

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; RAD51 PROTEIN;

ARTICLE; BREAST CANCER; CANCER RISK; CANCER SCREENING; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE CARRIER; EARLY DIAGNOSIS; FAMILIAL CANCER; FAMILY HISTORY; FEMALE; GENE; GENE MUTATION; GENETIC IDENTIFICATION; GENETIC SCREENING; GENETIC VARIABILITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HIGH RISK POPULATION; HUMAN; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OVARY CANCER; PREDICTION; PREVALENCE; PRIORITY JOURNAL; RACE; RAD51D GENE; RISK ASSESSMENT; RNA ANALYSIS; SEQUENCE ANALYSIS; SPANISH; TUMOR SUPPRESSOR GENE;

BREAST NEOPLASMS; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; GENES, BRCA1; GENES, BRCA2; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HETEROZYGOTE; HUMANS; MIDDLE AGED; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; OVARIAN NEOPLASMS; PEDIGREE; SPAIN;

EID: 84896722029     PISSN: 00207136     EISSN: 10970215     Source Type: Journal    
DOI: 10.1002/ijc.28540     Document Type: Article

References (28)

1. Ferlay J, Shin HR, Bray F, et al. Estimates of worldwide burden of cancer in 2008: GLOBOCAN 2008. Int J Cancer 2010; 127: 2893-917.
2. Permuth-Wey J, Sellers TA,. Epidemiology of ovarian cancer. Methods Mol Biol 2009; 472: 413-37.
3. Weissman SM, Weiss SM, Newlin AC,. Genetic testing by cancer site: ovary. Cancer J 2012; 18: 320-7.
4. Pennington KP, Swisher EM,. Hereditary ovarian cancer: beyond the usual suspects. Gynecol Oncol 2012; 124: 347-53.
5. Walsh T, Casadei S, Lee MK, et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci USA 2011; 108: 18032-7.
6. Loveday C, Turnbull C, Ramsay E, et al. Germline mutations in RAD51D confer susceptibility to ovarian cancer. Nat Genet 2011; 43: 879-82.
7. Takata M, Sasaki MS, Tachiiri S, et al. Chromosome instability and defective recombinational repair in knockout mutants of the five Rad51 paralogs. Mol Cell Biol 2001; 21: 2858-66.
8. Masson JY, Tarsounas MC, Stasiak AZ, et al. Identification and purification of two distinct complexes containing the five RAD51 paralogs. Genes Dev 2001; 15: 3296-307.
9. Chun J, Buechelmaier ES, Powell SN,. Rad51 paralog complexes BCDX2 and CX3 act at different stages in the BRCA1-BRCA2-dependent homologous recombination pathway. Mol Cell Biol 2013; 33: 387-95.
10. Tarsounas M, Munoz P, Claas A, et al. Telomere maintenance requires the RAD51D recombination/repair protein. Cell 2004; 117: 337-47.
11. Osher DJ, De LK, Michils G, et al. Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families. Br J Cancer 2012; 106: 1460-3.
12. Pelttari LM, Kiiski J, Nurminen R, et al. A Finnish founder mutation in RAD51D: analysis in breast, ovarian, prostate, and colorectal cancer. J Med Genet 2012; 49: 429-32.
13. Thompson ER, Rowley SM, Sawyer S, et al. Analysis of RAD51D in ovarian cancer patients and families with a history of ovarian or breast cancer. PLoS One 2013; 8: e54772.
14. Wickramanyake A, Bernier G, Pennil C, et al. Loss of function germline mutations in RAD51D in women with ovarian carcinoma. Gynecol Oncol 2012; 127: 552-5.
15. Cartegni L, Chew SL, Krainer AR,. Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet 2002; 3: 285-98.
16. Houdayer C, Caux-Moncoutier V, Krieger S, et al. Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. Hum Mutat 2012; 33: 1228-38.
17. Gonzalez-Perez A, Lopez-Bigas N,. Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel. Am J Hum Genet 2011; 88: 440-9.
18. Sellick G, Fielding S, Qureshi M, et al. Germline mutations in RAD51, RAD51AP1, RAD51B, RAD51C,RAD51D, RAD52 and RAD54L do not contribute to familial chronic lymphocytic leukemia. Leuk Lymphoma 2008; 49: 130-3.
19. Rodriguez-Lopez R, Osorio A, Ribas G, et al. The variant E233G of the RAD51D gene could be a low-penetrance allele in high-risk breast cancer families without BRCA1/2 mutations. Int J Cancer 2004; 110: 845-9.
20. Dowty JG, Lose F, Jenkins MA, et al. The RAD51D E233G variant and breast cancer risk: population-based and clinic-based family studies of Australian women. Breast Cancer Res Treat 2008; 112: 35-9.
21. Jara L, Dubois K, Gaete D, et al. Variants in DNA double-strand break repair genes and risk of familial breast cancer in a South American population. Breast Cancer Res Treat 2010; 122: 813-22.
22. Loveday C, Turnbull C, Ruark E, et al. Germline RAD51C mutations confer susceptibility to ovarian cancer. Nat Genet 2012; 44: 475-6.
23. Wolf A, Caliebe A, Thomas NS, et al. Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease. Hum Mutat 2011; 32: 1137-43.
24. Kim YM, Choi BS,. Structural and functional characterization of the N-terminal domain of human Rad51D. Int J Biochem Cell Biol 2011; 43: 416-22.
25. Haffty BG, Choi DH, Goyal S, et al. Breast cancer in young women (YBC): prevalence of BRCA1/2 mutations and risk of secondary malignancies across diverse racial groups. Ann Oncol 2009; 20: 1653-9.
26. Diez O, Osorio A, Duran M, et al. Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects. Hum Mutat 2003; 22: 301-12.
27. Mavaddat N, Pharoah PD, Blows F, et al. Familial relative risks for breast cancer by pathological subtype: a population-based cohort study. Breast Cancer Res 2010; 12: R10.
28. Panchal S, Bordeleau L, Poll A, et al. Does family history predict the age at onset of new breast cancers in BRCA1 and BRCA2 mutation-positive families? Clin Genet 2010; 77: 273-9.