Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer.
By H. Risch, J. McLaughlin, D. Cole, B. Rosen, L. Bradley, E. Kwan, E. Jack, D. Vesprini, G. Kuperstein, J. Abrahamson and 3 more. American Journal of Human Genetics, 2001
1,052 citations recorded by the source corpus.
Subfields: Genetics, Pathology and Forensic Medicine, Reproductive Medicine
View Paper: https://www.semanticscholar.org/paper/025ca3b18b60d627547c8aed5c85b2e4ac19183d
How researchers see this paper
The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.
In Genetics
- Barbara L. Weber
- Timothy R. Rebbeck
- Nelson L. S. Tang
- J. Peto
- Ie-Ming Shih
- Sean V. Tavtigian
- M. King
- R. Kurman
In Reproductive Medicine
Citations in the corpus
- Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program. (2002, background): “A recent study of incident ovarian cancer cases tested for germline BRCA1 mutations suggested a consistent risk of ovarian cancer association with mutations throughout BRCA1 but an increased risk of breast cancer associated with mutations in the 3 region of BRCA1 ( 24 ).”
- BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases (2005, background): “invasive ovarian carcinomas are due to hereditary susceptibility.(5,6) Mutations in the BRCA1 and BRCA2”
- OVARIAN LOW-GRADE AND HIGH-GRADE SEROUS CARCINOMA: Pathogenesis, Clinicopathologic and Molecular Biologic Features, and Diagnostic Problems (2009, background): “In all, 12% to 15% of women with ovarian carcinoma, and B15% of serous carcinomas, in large population-based series from North America have germline mutations of BRCA, either BRCA1 or BRCA2.(43,44) Most of the BRCA-related hereditary ovarian tumors are high-grade serous carcinoma.”
- Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond. (2015, neutral): “P44 (White) 3 DGC (37) GC (70), LBC (45), BC (33), BC (56) GEJ (NA), CRC (70), prostate (NA) NR STK11 (19) c.”
- Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. (2002, result): “Because of the generally high prevalence of mutations associated with this disease, it has been suggested that genetic testing should be considered for women who have been diagnosed with invasive ovarian cancer, regardless of family history.(10,14) The prevalence of mutations in women with ovarian c”
- Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. (2006, background): “Among white women in the United States, 5% to 10% of breast cancer cases and 10% to 15% of ovarian cancer cases are due to inherited mutations in BRCA1 and BRCA2.(3-10) Inherited mutations in other genes also influence risk of breast cancer.”
- Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. (2003, background): “…(22–54) Thorlacius et al. 1998 Population-based Br cases 18 (2–32) 56 (5–80) 3 (0–19) 10 (1–55) Anglian Breast Cancer Study Group 2000 Population-based Ov cases 3.6 8.8 1.6 4.5 Risch et al. 2001 a Br p breast cancer; Ov p ovarian cancer b Carrying 185delAG and 5382insC. c Carrying 185delAG,…”