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Evaluation of Fanconi Anemia genes in familial breast cancer predisposition.
Cancer Res 2003; 63(24):8596-9CR

Abstract

Fanconi Anemia (FA) is an autosomal recessive syndrome characterized by congenital abnormalities, progressive bone marrow failure, and susceptibility to cancer. FA has eight known complementation groups and is caused by mutations in at least seven genes. Biallelic BRCA2 mutations were shown recently to cause FA-D1. Monoallelic (heterozygous) BRCA2 mutations confer a high risk of breast cancer and are a major cause of familial breast cancer. To investigate whether heterozygous variants in other FA genes are high penetrance breast cancer susceptibility alleles, we screened germ-line DNA from 88 BRCA1/2-negative families, each with at least three cases of breast cancer, for mutations in FANCA, FANCC, FANCD2, FANCE, FANCF, and FANCG. Sixty-nine sequence variants were identified of which 25 were exonic. None of the exonic variants resulted in translational frameshifts or nonsense codons and 14 were polymorphisms documented previously. Of the remaining 11 exonic variants, 2 resulted in synonymous changes, and 7 were present in controls. Only 2 conservative missense variants, 1 in FANCA and 1 in FANCE, were each found in a single family and were not present in 300 controls. The results indicate that FA gene mutations, other than in BRCA2, are unlikely to be a frequent cause of highly penetrant breast cancer predisposition.

Authors+Show Affiliations

Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, United Kingdom.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

14695169

Citation

Seal, Sheila, et al. "Evaluation of Fanconi Anemia Genes in Familial Breast Cancer Predisposition." Cancer Research, vol. 63, no. 24, 2003, pp. 8596-9.
Seal S, Barfoot R, Jayatilake H, et al. Evaluation of Fanconi Anemia genes in familial breast cancer predisposition. Cancer Res. 2003;63(24):8596-9.
Seal, S., Barfoot, R., Jayatilake, H., Smith, P., Renwick, A., Bascombe, L., ... Rahman, N. (2003). Evaluation of Fanconi Anemia genes in familial breast cancer predisposition. Cancer Research, 63(24), pp. 8596-9.
Seal S, et al. Evaluation of Fanconi Anemia Genes in Familial Breast Cancer Predisposition. Cancer Res. 2003 Dec 15;63(24):8596-9. PubMed PMID: 14695169.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Evaluation of Fanconi Anemia genes in familial breast cancer predisposition. AU - Seal,Sheila, AU - Barfoot,Rita, AU - Jayatilake,Hiran, AU - Smith,Paula, AU - Renwick,Anthony, AU - Bascombe,Linda, AU - McGuffog,Lesley, AU - Evans,D Gareth, AU - Eccles,Diana, AU - Easton,Douglas F, AU - Stratton,Michael R, AU - Rahman,Nazneen, AU - ,, PY - 2003/12/26/pubmed PY - 2004/3/12/medline PY - 2003/12/26/entrez SP - 8596 EP - 9 JF - Cancer research JO - Cancer Res. VL - 63 IS - 24 N2 - Fanconi Anemia (FA) is an autosomal recessive syndrome characterized by congenital abnormalities, progressive bone marrow failure, and susceptibility to cancer. FA has eight known complementation groups and is caused by mutations in at least seven genes. Biallelic BRCA2 mutations were shown recently to cause FA-D1. Monoallelic (heterozygous) BRCA2 mutations confer a high risk of breast cancer and are a major cause of familial breast cancer. To investigate whether heterozygous variants in other FA genes are high penetrance breast cancer susceptibility alleles, we screened germ-line DNA from 88 BRCA1/2-negative families, each with at least three cases of breast cancer, for mutations in FANCA, FANCC, FANCD2, FANCE, FANCF, and FANCG. Sixty-nine sequence variants were identified of which 25 were exonic. None of the exonic variants resulted in translational frameshifts or nonsense codons and 14 were polymorphisms documented previously. Of the remaining 11 exonic variants, 2 resulted in synonymous changes, and 7 were present in controls. Only 2 conservative missense variants, 1 in FANCA and 1 in FANCE, were each found in a single family and were not present in 300 controls. The results indicate that FA gene mutations, other than in BRCA2, are unlikely to be a frequent cause of highly penetrant breast cancer predisposition. SN - 0008-5472 UR - https://www.unboundmedicine.com/medline/citation/14695169/Evaluation_of_Fanconi_Anemia_genes_in_familial_breast_cancer_predisposition_ L2 - http://cancerres.aacrjournals.org/cgi/pmidlookup?view=long&pmid=14695169 DB - PRIME DP - Unbound Medicine ER -