Published in Am J Hum Genet on March 01, 1997
Population genetics of BRCA1 and BRCA2. Am J Hum Genet (1997) 3.28
Lipoprotein genotype and conserved pathway for exceptional longevity in humans. PLoS Biol (2006) 3.12
BRCA1 and BRCA2 mutation analysis of 208 Ashkenazi Jewish women with ovarian cancer. Am J Hum Genet (2000) 2.31
A single nucleotide polymorphism in the RAD51 gene modifies cancer risk in BRCA2 but not BRCA1 carriers. Proc Natl Acad Sci U S A (2001) 2.09
Frequency and carrier risk associated with common BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer patients. Am J Hum Genet (1998) 1.75
Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study. Am J Hum Genet (1998) 1.61
Single nucleotide polymorphism seeking long term association with complex disease. Nucleic Acids Res (2002) 1.33
Log odds of carrying an Ancestral Mutation in BRCA1 or BRCA2 for a Defined personal and family history in an Ashkenazi Jewish woman (LAMBDA). Breast Cancer Res (2003) 1.25
Guidelines for genetic risk assessment of hereditary breast and ovarian cancer: early disagreements and low utilization. J Gen Intern Med (2009) 1.14
Genome-wide loss of heterozygosity and uniparental disomy in BRCA1/2-associated ovarian carcinomas. Clin Cancer Res (2008) 1.06
Genetic counselling and testing for inherited gene mutations in newly diagnosed patients with breast cancer: a review of the existing literature and a proposed research agenda. Breast Cancer Res (2008) 1.05
The rate of the founder Jewish mutations in BRCA1 and BRCA2 in prostate cancer patients in Israel. Br J Cancer (2000) 1.05
Evidence for effective suppression of recombination in the chromosome 17q21 segment spanning RNU2-BRCA1. Am J Hum Genet (1999) 1.03
The rate of the 6174delT founder Jewish mutation in BRCA2 in patients with non-colonic gastrointestinal tract tumours in Israel. Br J Cancer (2001) 1.01
Prevalence of the BRCA1 founder mutation c.5266dupin Brazilian individuals at-risk for the hereditary breast and ovarian cancer syndrome. Hered Cancer Clin Pract (2011) 1.00
The R72P P53 mutation is associated with familial breast cancer in Jewish women. Br J Cancer (2005) 1.00
Hereditary breast cancer in Jews. Fam Cancer (2004) 0.99
Founder populations and their uses for breast cancer genetics. Breast Cancer Res (2000) 0.99
Identification of the prevalent BRCA1 and BRCA2 mutations in the female population of Puerto Rico. Cancer Genet (2012) 0.95
A novel BRCA-1 mutation in Arab kindred from east Jerusalem with breast and ovarian cancer. BMC Cancer (2007) 0.94
Prevalence of BRCA1 and BRCA2 mutations in Korean breast cancer patients. J Korean Med Sci (2004) 0.93
BRCA1 And BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin. Springerplus (2012) 0.92
Risk factors for detecting germline BRCA1 and BRCA2 founder mutations in Ashkenazi Jewish women with breast or ovarian cancer. J Med Genet (1999) 0.92
BRCA1 and BRCA2 mutations in Turkish breast/ovarian families and young breast cancer patients. Br J Cancer (2000) 0.91
Offspring gender ratio and the rate of recurrent spontaneous miscarriages in jewish women at high risk for breast/ovarian cancer. Am J Hum Genet (2004) 0.90
Contribution of BRCA1 germ-line mutations to breast cancer in Greece: a hospital-based study of 987 unselected breast cancer cases. Br J Cancer (2009) 0.89
Peritoneal carcinoma in women with genetic susceptibility: implications for Jewish populations. Fam Cancer (2004) 0.88
BRCA1 and BRCA2 mutations in central and southern Italian patients. Breast Cancer Res (2000) 0.88
Prevalence of BRCA1 in a hospital-based population of Dutch breast cancer patients. Br J Cancer (2000) 0.87
An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC. Fam Cancer (2010) 0.86
Acceptance of preventive surgeries by Israeli women who had undergone BRCA testing. Fam Cancer (2006) 0.85
Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations. Eur J Hum Genet (2012) 0.84
Modeling the probability that Ashkenazi Jewish women carry a founder mutation in BRCA1 or BRCA2. Am J Hum Genet (1999) 0.84
PGD for hereditary breast and ovarian cancer: the route to universal tests for BRCA1 and BRCA2 mutation carriers. Eur J Hum Genet (2013) 0.83
The Jewish people: their ethnic history, genetic disorders and specific cancer susceptibility. Fam Cancer (2004) 0.83
BRCA1 and BRCA2 testing: weighing the demand against the benefits. Am J Hum Genet (1999) 0.81
Ashkenazi Jewish centenarians do not demonstrate enrichment in mitochondrial haplogroup J. PLoS One (2008) 0.81
BRCA1/2 associated hereditary breast cancer. J Zhejiang Univ Sci B (2008) 0.80
Association of the I1307K APC mutation with hereditary and sporadic breast/ovarian cancer: more questions than answers. Br J Cancer (2000) 0.80
Identification of a founder BRCA2 mutation in Sardinian breast cancer families. Fam Cancer (2007) 0.80
Recent advances in breast cancer genetics. Cancer Treat Res (2008) 0.80
High frequency of BRCA1, but not CHEK2 or NBS1 (NBN), founder mutations in Russian ovarian cancer patients. Hered Cancer Clin Pract (2009) 0.79
Prevalence of 185delAG and 5382insC mutations in BRCA1, and 6174delT in BRCA2 in women of Ashkenazi Jewish origin in southern Brazil. Genet Mol Biol (2012) 0.79
The 471delAAAG mutation and C353T polymorphism in the RNASEL gene in sporadic and inherited cancer in Israel. Fam Cancer (2006) 0.79
The Tyr978X BRCA1 mutation: occurrence in non-Jewish Iranians and haplotype in French-Canadian and non-Ashkenazi Jews. Fam Cancer (2005) 0.78
An identical novel mutation in BRCA1 and a common haplotype in familial ovarian cancer in non-Ashkenazi Jews. Br J Cancer (1998) 0.78
The 1100delAT BRCA1 and the 8765delAG BRCA2 mutations: occurrence in high-risk non-Ashkenazi Jews and haplotype comparison of Jewish and non-Jewish carriers. Fam Cancer (2004) 0.78
Prevalence of the BRCA1 c.68_69delAG (BIC: 185delAG) mutation in women with breast cancer from north-central Poland and a review of the literature on other regions of the country. Contemp Oncol (Pozn) (2013) 0.78
Effects of the single nucleotide polymorphism at MDM2 309 on breast cancer patients with/without BRCA1/2 mutations. BMC Cancer (2009) 0.77
High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testing. Eur J Hum Genet (2015) 0.77
Two BRCA1/2 founder mutations in Jews of Sephardic origin. Fam Cancer (2011) 0.76
Contribution of BRCA1 germline mutation in patients with sporadic breast cancer. Int Semin Surg Oncol (2008) 0.76
Restoration of CAPAN-1 cells with functional BRCA2 provides insight into the DNA repair activity of individuals who are heterozygous for BRCA2 mutations. Cancer Genet Cytogenet (2008) 0.76
Overall survival and clinical characteristics of BRCA mutation carriers with stage I/II pancreatic cancer. Br J Cancer (2017) 0.75
Do hereditary syndrome-related gynecologic cancers have any specific features? Insights Imaging (2015) 0.75
Overall Survival and Clinical Characteristics of BRCA-Associated Cholangiocarcinoma: A Multicenter Retrospective Study. Oncologist (2017) 0.75
A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res (1988) 77.80
Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet (1994) 9.60
The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet (1995) 5.83
Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation. Nat Genet (1995) 4.86
Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene. Am J Hum Genet (1992) 4.80
Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet (1996) 4.36
Estimates of the gene frequency of BRCA1 and its contribution to breast and ovarian cancer incidence. Am J Hum Genet (1995) 3.71
The genetic attributable risk of breast and ovarian cancer. Cancer (1996) 3.55
Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families. Nat Genet (1994) 3.38
Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families. Nat Med (1996) 3.07
Germ-line BRCA1 mutations in Jewish and non-Jewish women with early-onset breast cancer. N Engl J Med (1996) 3.04
Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study. Am J Hum Genet (1996) 2.97
Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer. Nat Genet (1996) 2.93
The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%. Nat Genet (1996) 2.82
Detection of eight BRCA1 mutations in 10 breast/ovarian cancer families, including 1 family with male breast cancer. Am J Hum Genet (1995) 2.42
Germline BRCA1 185delAG mutations in Jewish women with breast cancer. Lancet (1996) 2.40
Mutation analysis of the BRCA1 gene in ovarian cancers. Cancer Res (1995) 1.85
Novel inherited mutations and variable expressivity of BRCA1 alleles, including the founder mutation 185delAG in Ashkenazi Jewish families. Am J Hum Genet (1995) 1.85
BRCA1 mutations in Ashkenazi Jewish women. Am J Hum Genet (1995) 1.75
Two distinct origins of a common BRCA1 mutation in breast-ovarian cancer families: a genetic study of 15 185delAG-mutation kindreds. Am J Hum Genet (1996) 1.14
Neoplastic diseases in families of breast cancer patients. J Med Genet (1994) 1.11
Frequency of the BRCA1 185delAG mutation among Jewish women with ovarian cancer and matched population controls. Cancer Res (1996) 1.05
Molecular diagnosis of Prader-Willi syndrome: parent-of-origin dependent methylation sites and non-isotopic detection of (CA)n dinucleotide repeat polymorphisms. Am J Med Genet (1994) 1.02
Breast cancer and BRCA1 mutations. N Engl J Med (1996) 0.96
The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet (1995) 5.83
Mammalian heparanase: gene cloning, expression and function in tumor progression and metastasis. Nat Med (1999) 4.22
Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans? Am J Hum Genet (1989) 2.43
Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. Nat Genet (2000) 2.39
The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types. Am J Hum Genet (1983) 2.15
Skin toxic effects of polyethylene glycol-coated liposomal doxorubicin. Arch Dermatol (2000) 1.98
Anorectal malformations and Down syndrome. Am J Med Genet (1989) 1.97
Kidney involvement and renal manifestations in non-Hodgkin's lymphoma and lymphocytic leukemia: a retrospective study in 700 patients. Eur J Haematol (2001) 1.94
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. Am J Hum Genet (1999) 1.88
Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. Am J Hum Genet (1998) 1.87
Determinants of the use of complementary therapies by patients with cancer. J Clin Oncol (2001) 1.69
Can we rely on the family history? Am J Med Genet (1998) 1.61
Ovarian cysts in premenopausal and postmenopausal tamoxifen-treated women with breast cancer. Am J Obstet Gynecol (1996) 1.59
Mucolipidosis type IV: clinical spectrum and natural history. Pediatrics (1987) 1.59
Expression of heparanase in normal, dysplastic, and neoplastic human colonic mucosa and stroma. Evidence for its role in colonic tumorigenesis. Am J Pathol (2000) 1.52
A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews. Hum Mutat (2001) 1.50
A single-nucleotide polymorphism in the RAD51 gene modifies breast cancer risk in BRCA2 carriers, but not in BRCA1 carriers or noncarriers. Br J Cancer (2004) 1.41
Cleft lip and palate, pili torti, malformed ears, partial syndactyly of fingers and toes, and mental retardation: a new syndrome? J Med Genet (1987) 1.40
Hyperphosphatasemia in infantile GM1 gangliosidosis: possible association with microscopic bone marrow osteoblastosis. J Pediatr (1990) 1.40
Inhibition of tumor metastasis by heparanase inhibiting species of heparin. Invasion Metastasis (1995) 1.34
Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population. Am J Hum Genet (1992) 1.32
CAG and GGC repeat polymorphisms in the androgen receptor gene and breast cancer susceptibility in BRCA1/2 carriers and non-carriers. Br J Cancer (2001) 1.27
Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis. Neuromuscul Disord (1997) 1.24
The Jewish Ashkenazi founder mutations in the BRCA1/BRCA2 genes are not found at an increased frequency in Ashkenazi patients with prostate cancer. Am J Hum Genet (1999) 1.19
Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations. Hum Mol Genet (1997) 1.18
Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians. Am J Hum Genet (1992) 1.17
Human menopausal gonadotropin and the risk of epithelial ovarian cancer. Fertil Steril (1996) 1.16
The role of open lung biopsy in the management and outcome of patients with diffuse lung disease. Ann Thorac Surg (1998) 1.14
Enhanced gastric nitric oxide synthase activity in duodenal ulcer patients. Gut (1994) 1.13
Multimarker RT-PCR assay for the detection of minimal residual disease in sentinel lymph nodes of breast cancer patients. Br J Cancer (2006) 1.12
Biliary and pancreatic metastases of breast carcinoma: is surgical palliation indicated? J Surg Oncol (1991) 1.11
Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling. Hum Mol Genet (1997) 1.11
Asplenia and polysplenia syndromes with abnormalities of lateralisation in a sibship. J Med Genet (1981) 1.11
Further localization of X-linked hydrocephalus in the chromosomal region Xq28. Am J Hum Genet (1992) 1.11
Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area. Am J Hum Genet (1995) 1.10
Confirmation and further regional assignment of aminoacylase 1 (acy-1) on human chromosome 3 using a simplified detection method. Ann Hum Genet (1980) 1.10
Central nervous system involvement in indolent lymphomas. Ann Oncol (2005) 1.09
Multiple mutations in a specific gene in a small geographic area: a common phenomenon? Am J Hum Genet (1996) 1.08
Microsatellite instability and p53 mutations in therapy-related leukemia suggest mutator phenotype. Blood (1996) 1.08
Localized intestinal perforations after enteral administration of indomethacin in premature infants. J Pediatr (1985) 1.08
Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel. Hum Genet (1996) 1.07
Localization of the Krabbe disease gene (GALC) on chromosome 14 by multipoint linkage analysis. Am J Hum Genet (1993) 1.07
Tumor suppressor p53 regulates heparanase gene expression. Oncogene (2006) 1.07
Fanconi anemia: prenatal diagnosis in 30 fetuses at risk. Pediatrics (1985) 1.07
Laser-assisted derivation of human embryonic stem cell lines from IVF embryos after preimplantation genetic diagnosis. Hum Reprod (2007) 1.06
Effect of framing on the perception of genetic recurrence risks. Am J Med Genet (1989) 1.06
Preimplantation genetic diagnosis for BRCA1/2--a novel clinical experience. Prenat Diagn (2009) 1.05
Molecular genetics of metachromatic leukodystrophy. Hum Mutat (1994) 1.05
Active genes are sensitive to deoxyribonuclease I during metaphase. Science (1982) 1.04
Negative expansion of the myotonic dystrophy unstable sequence. Am J Hum Genet (1993) 1.04
Molecular properties and involvement of heparanase in cancer progression and mammary gland morphogenesis. J Mammary Gland Biol Neoplasia (2001) 1.04
The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant? Hum Mutat (2000) 1.03
Combined enzymatic and linkage analysis for heterozygote detection in Hunter syndrome: identification of an apparent case of germinal mosaicism. Am J Med Genet (1993) 1.03
Pharmacokinetic and imaging studies in patients receiving a formulation of liposome-associated adriamycin. Br J Cancer (1991) 1.02
Safety and efficacy of 188-rhenium-labeled antibody to melanin in patients with metastatic melanoma. J Skin Cancer (2013) 1.02
Transient neonatal diabetes mellitus in a child with invdup(6)(q22q23) of paternal origin. Eur J Hum Genet (1998) 1.01
Primary colorectal sarcoma. A retrospective review and prognostic factor study of 50 consecutive patients. Arch Surg (1990) 1.00
Hunter's syndrome: activity of iduronate sulfate sulfatase in the serum of pregnant heterozygotes. N Engl J Med (1984) 1.00
Krabbe disease: increased incidence in a highly inbred community. Am J Med Genet (1985) 0.99
Injection of vascular endothelial growth factor into knee joints induces osteoarthritis in mice. Osteoarthritis Cartilage (2012) 0.99
Systemic administration of doxorubicin-containing liposomes in cancer patients: a phase I study. Eur J Cancer Clin Oncol (1989) 0.98
Latent viruses and Bell's palsy in children. Eur Neurol (1978) 0.97
Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications. Hum Mol Genet (1994) 0.97
Osteoid osteoma of the scapula. A case report and review of the literature. Clin Orthop Relat Res (1991) 0.97
Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT. Am J Med Genet (2000) 0.96
Rapid development of post-radiotherapy sarcoma and breast cancer in a patient with a novel germline 'de-novo' TP53 mutation. Clin Oncol (R Coll Radiol) (2007) 0.96
Prognostic role of serum cytokeratin 19 fragments in advanced non-small-cell lung cancer: association of marker changes after two chemotherapy cycles with different measures of clinical response and survival. Br J Cancer (2007) 0.95
A deletion/insertion mutation in the BRCA2 gene in a breast cancer family: a possible role of the Alu-polyA tail in the evolution of the deletion. Genes Chromosomes Cancer (2001) 0.95
Nonfunctional paraganglioma of the pancreas. Am J Gastroenterol (1984) 0.95
Variability of Stickler syndrome. Am J Med Genet (1992) 0.95
Identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the aetiology of retinitis pigmentosa in humans. J Med Genet (2010) 0.94
A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews. Am J Med Genet A (2011) 0.94
Both recessive and dominant forms of anhidrotic/hypohidrotic ectodermal dysplasia map to chromosome 2q11-q13. Am J Hum Genet (1999) 0.94
Heterozygote detection in Hunter syndrome. Am J Med Genet (1984) 0.93
On the inheritance of primary spontaneous pneumothorax. Am J Med Genet (1991) 0.92
Heterogeneity of the autosomal dominant split hand/split foot malformation. Am J Hum Genet (1995) 0.92
The genetics of the aryl sulfatase A locus. Am J Hum Genet (1981) 0.92
Radiocurability of microscopic disease in childhood rhabdomyosarcoma with radiation doses less than 4,000 cGy. J Clin Oncol (1990) 0.92
Genetic homogeneity of autoimmune polyglandular disease type I. Am J Hum Genet (1996) 0.92
Increased level of bleomycin-induced chromosome breakage in ataxia telangiectasia skin fibroblasts. Cancer Res (1983) 0.91
Familial café au lait spots: a variant of neurofibromatosis type 1. J Med Genet (1995) 0.91
Haplotype analysis of BRCA2 8765delAG mutation carriers in French Canadian and Yemenite Jewish hereditary breast cancer families. Hum Hered (2001) 0.91
Interleukin-2 improves tumour response to DNP-modified autologous vaccine for the treatment of metastatic malignant melanoma. Br J Cancer (2004) 0.91
Machado-Joseph disease: correlation between the clinical features, the CAG repeat length and homozygosity for the mutation. Eur J Hum Genet (1996) 0.90
Double heterozygotes for the Ashkenazi founder mutations in BRCA1 and BRCA2 genes. Am J Hum Genet (1998) 0.90
Metabolic activity in the calcified zone of cartilage: observations on tetracycline labelled articular cartilage in human osteoarthritic hips. Rheumatol Int (1990) 0.90