Cancers of the breast and female genital system: Search for recessive genetic factors through analysis of human isolate
References (16)
The founder effect in a human isolate: Evolutionary implications
Am. J. Phys. Anthropol
(1970)- et al.
Genetic studies on an inbred human isolate
Growth and inbreeding of a human isolate, Hum
Biol
(1967)The demography of new colony formation in a human isolate: Analysis and history, Ph.D. thesis
(1976)- et al.
Cancer mortality in a human isolate
J. Natl. Cancer Inst
(1980) - Martin, A.O., Dunn J.K., and Smalley, B.: Use of genealogically linked data base in the analysis of cancer in a human...
- Siegel, S.: Nonparametric Statistics for the Behavioral Sciences, New York, 1956, McGraw-Hill, p....
- Simpson, J.L.: Genetics of pelvic cancer, in Sciarra, J.J., editor: Gynecology and Obstetrics, vol. 4, Hagerstown....
Cited by (25)
Ancestry-Dependent Enrichment of Deleterious Homozygotes in Runs of Homozygosity
2019, American Journal of Human GeneticsCitation Excerpt :The distribution of runs of homozygosity in individual genomes has provided insights into evolutionary, population, and medical genetics.1 By examining their genomic location and prevalence in a population, we can learn about the history and adaptation of natural populations,2–30,96,97 and we can make discoveries about the genetic basis of complex phenotypes.32–48 Given the importance of demographic history and socio-cultural practices in the generation of ROH in individual genomes, and their relationship to complex phenotypes including many genetic diseases, it naturally follows to study the distribution of deleterious alleles and their relationship to ROH.
Genome-wide homozygosity signatures and childhood acute lymphoblastic leukemia risk
2010, BloodCitation Excerpt :Although this may be reflective of the biology, it may also be a consequence of GWA studies having suboptimal ability to detect recessively acting disease alleles. Clues that tumor susceptibility may have a recessive basis come from reports of an increased incidence associated with consanguinity and in populations characterized by a high degree of inbreeding.4-9 Further evidence for the role of homozygosity in cancer predisposition is provided by experimental animal inbreeding (eg, backcrossing mice) increasing tumor incidence.10
Copy neutral loss of heterozygosity: A novel chromosomal lesion in myeloid malignancies
2010, BloodCitation Excerpt :However, the cause of larger regions of CN-LOH seen in significant proportions of healthy unrelated controls studied in various projects has not been precisely identified, and the size of regions of CN-LOH is expected to get smaller with the increasingly outbred nature of urban human populations.20 Of great interest, forms of constitutional LOH have been implicated in predisposition to malignancies, a fact best illustrated in inbred ethnic populations.21-24 Comparisons of germline SNP-A data of 74 colorectal cancer patients identified that the percentage of those with autozygous segments of 4 Mb or more is at least twice as high as in control groups.25
Runs of Homozygosity in European Populations
2008, American Journal of Human GeneticsCitation Excerpt :Quantification of individual autozygosity is also of interest to those investigating recessive effects in complex-disease genetics. Several studies in consanguineous or small, isolated populations with above average levels of parental relatedness have found evidence for a genome-wide effect of homozygosity on coronary heart disease,29–31 cancer,29,32–34 blood pressure,10–17 and LDL cholesterol.15 These findings are consistent with studies suggesting that the variants associated with increased risk of common complex disease are more likely to be rare than to be common in the population;35,36 are more likely to be distributed abundantly rather than sparsely across the genome,37 and are more likely to be recessive than to be dominant.38
Homogénéité de la distribution spatiale des cancers du système reproducteur féminin au Québec
1995, Social Science and MedicineLeiomyosarcomas: Clinical presentation
1993, American Journal of Obstetrics and Gynecology
Supported by Grant No. 19822 from the National Cancer Institute.
Sponsored by the Society for Gynecologic Investigation.