A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability. Healey, C., S., Dunning, A., M., Teare, M., D., Chase, D., Parker, L., Burn, J., Chang-Claude, J., Mannermaa, A., Kataja, V., Huntsman, D., G., Pharoah, P., D., Luben, R., N., Easton, D., F., & Ponder, B., A. Nat Genet, 26(3):362-4., 2000.
A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability [link]Website  abstract   bibtex   
Inherited mutations in the gene BRCA2 predispose carriers to early onset breast cancer, but such mutations account for fewer than 2% of all cases in East Anglia. It is likely that low penetrance alleles explain the greater part of inherited susceptibility to breast cancer; polymorphic variants in strongly predisposing genes, such as BRCA2, are candidates for this role. BRCA2 is thought to be involved in DNA double strand break-repair. Few mice in which Brca2 is truncated survive to birth; of those that do, most are male, smaller than their normal littermates and have high cancer incidence. Here we show that a common human polymorphism (N372H) in exon 10 of BRCA2 confers an increased risk of breast cancer: the HH homozygotes have a 1.31-fold (95% CI, 1.07-1.61) greater risk than the NN group. Moreover, in normal female controls of all ages there is a significant deficiency of homozygotes compared with that expected from Hardy-Weinberg equilibrium, whereas in males there is an excess of homozygotes: the HH group has an estimated fitness of 0.82 in females and 1.38 in males. Therefore, this variant of BRCA2 appears also to affect fetal survival in a sex-dependent manner.
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 title = {A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability},
 type = {article},
 year = {2000},
 identifiers = {[object Object]},
 keywords = {*Genes, Suppressor, Tumor,*Sex Ratio,*Variation (Genetics),Alleles,Animal,Birth Weight,Breast Neoplasms/epidemiology/*genetics,Case-Control Studies,Comparative Study,DNA Repair,Exons/genetics,Female,Fetal Death/epidemiology/*genetics,Gene Frequency,Genetic Predisposition to Disease,Genotype,Human,Infant, Newborn,Male,Mice,Neoplasm Proteins/deficiency/*genetics,Neoplastic Syndromes, Hereditary/epidemiology/*gen,Odds Ratio,Risk,Sex Factors,Single-Blind Method,Support, Non-U.S. Gov't,Transcription Factors/deficiency/*genetics},
 pages = {362-4.},
 volume = {26},
 websites = {http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v26/n3/full/ng1100_362.html,http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v26/n3/abs/ng1100_362.html},
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 last_modified = {2017-06-19T13:45:10.247Z},
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 abstract = {Inherited mutations in the gene BRCA2 predispose carriers to early onset breast cancer, but such mutations account for fewer than 2% of all cases in East Anglia. It is likely that low penetrance alleles explain the greater part of inherited susceptibility to breast cancer; polymorphic variants in strongly predisposing genes, such as BRCA2, are candidates for this role. BRCA2 is thought to be involved in DNA double strand break-repair. Few mice in which Brca2 is truncated survive to birth; of those that do, most are male, smaller than their normal littermates and have high cancer incidence. Here we show that a common human polymorphism (N372H) in exon 10 of BRCA2 confers an increased risk of breast cancer: the HH homozygotes have a 1.31-fold (95% CI, 1.07-1.61) greater risk than the NN group. Moreover, in normal female controls of all ages there is a significant deficiency of homozygotes compared with that expected from Hardy-Weinberg equilibrium, whereas in males there is an excess of homozygotes: the HH group has an estimated fitness of 0.82 in females and 1.38 in males. Therefore, this variant of BRCA2 appears also to affect fetal survival in a sex-dependent manner.},
 bibtype = {article},
 author = {Healey, C S and Dunning, A M and Teare, M D and Chase, D and Parker, L and Burn, J and Chang-Claude, J and Mannermaa, A and Kataja, V and Huntsman, D G and Pharoah, P D and Luben, R N and Easton, D F and Ponder, B A},
 journal = {Nat Genet},
 number = {3}
}
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