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- Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.Proc Natl Acad Sci U S A. 2011; 108: 18032-18037
- Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2.Science. 2003; 302: 643-646
- 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.Am J Hum Genet. 2003; 72: 1117-1130
- Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families.Am J Hum Genet. 1998; 62: 676-689
SGO Clinical Practice Statement: Genetic testing for ovarian cancer. Available at: https://www.sgo.org/clinical-practice/guidelines/genetic-testing-for-ovarian-cancer/. Accessed October 24, 2016.
NCCN Guidelines Genetic/Familial High-Risk Assessment: breast and ovarian version 1.2017 2016; Available at: https://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf. Accessed September 1, 2017.
- Prevalence of BRCA1 and BRCA2 mutations in Ashkenazi Jewish families with breast and pancreatic cancer.Cancer. 2012; 118: 493-499
- Cancers associated with BRCA1 and BRCA2 mutations other than breast and ovarian.Cancer. 2015; 121: 269-275
- Uterine cancer after risk-reducing salpingo-oophorectomy without hysterectomy in women with BRCA mutations.JAMA Oncol. 2016; 2: 1434-1440
- Germline mutations in RAD51D confer susceptibility to ovarian cancer.Nat Genet. 2011; 43: 879-882
- Germline RAD51C mutations confer susceptibility to ovarian cancer.Nat Genet. 2012; 44: 475-476
- Germline mutations in the BRIP1, BARD1, PALB2, and NBN genes in women with ovarian cancer.J Natl Cancer Inst. 2015; 107: djv214
- Lynch syndrome in the 21st century: clinical perspectives.QJM. 2016; 109: 151-158
NCCN Clinical practice guidelines in oncology: genetic/familial high-risk assessment: colorectal. 2016; Available at: https://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf. Accessed October 11, 2016.
- Cancer risk in Lynch syndrome.Fam Cancer. 2013; 12: 229-240
- Gynecologic cancer as a “sentinel cancer” for women with hereditary nonpolyposis colorectal cancer syndrome.Obstetrics Gynecol. 2005; 105: 569-574
- Identifying Lynch syndrome in patients with ovarian carcinoma: the significance of tumor subtype.Adv Anat Pathol. 2013; 20: 378-386
- The histomorphology of Lynch syndrome–associated ovarian carcinomas: toward a subtype-specific screening strategy.Am J Surg Pathol. 2014; 38: 1173-1181
SGO Clinical Practice Statement: screening for Lynch syndrome in endometrial cancer. Available at: https://www.sgo.org/clinical-practice/guidelines/screening-for-lynch-syndrome-in-endometrial-cancer/. Accessed October 24, 2016.
- Germline mutations affecting the proofreading domains of pole and pold1 predispose to colorectal adenomas and carcinomas.Nat Genet. 2013; 45: 136-144
- Germline and somatic polymerase ε and δ mutations define a new class of hypermutated colorectal and endometrial cancers.J Pathol. 2013; 230: 148-153
- POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance.Genet Med. 2016; 18: 325-332
- Lifetime cancer risks in individuals with germline PTEN mutations.Clin Cancer Res. 2012; 18: 400-407
- High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations.Am J Gastroenterol. 2010; 105: 1258-1264
- Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study.Dig Liver Dis. 2013; 45: 606-611
- Peutz-Jeghers syndrome.Am J Gastroenterol. 2000; 95: 596-604
- p53: master of life, death, and the epigenome.Genes Development. 2017; 31: 955-956
- Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study.Lancet Oncol. 2011; 12: 559-567
- Cancer screening recommendations for individuals with Li-Fraumeni syndrome.Clin Cancer Res. 2017; 23: e38-e45
- Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study.Lancet Oncol. 2016; 17: 1295-1305
- Li-Fraumeni and related syndromes. Correlation between tumor type, family structure, and TP53 genotype.Cancer Res. 2003; 63: 6643-6650
ACOG Practice Bulletin No 182: Hereditary breast and ovarian cancer syndrome. Obstet Gynecol 2017;130(3);e110–26.
- Inherited mutations in women with ovarian carcinoma.JAMA Oncol. 2016; 2: 482-490
- Prospective evaluation of molecular screening for Lynch syndrome in patients with endometrial cancer ≤ 70 years.Gynecol Oncol. 2012; 125: 414-420
- American cancer society guidelines for breast screening with MRI as an adjunct to mammography.CA Cancer J Clinicians. 2007; 57: 75-89
- Effect of screening on ovarian cancer mortality: the prostate, lung, colorectal and ovarian (PLCO) cancer screening randomized controlled trial.JAMA. 2011; 305: 2295-2303
- Results from four rounds of ovarian cancer screening in a randomized trial.Obstetrics Gynecol. 2009; 113: 775-782
- The role of ultrasound evaluation in the detection of early-stage epithelial ovarian cancer.Am J Obstetrics Gynecol. 2005; 192: 1214-1221
- The epidemiology of CA-125 in women without evidence of ovarian cancer in the prostate, lung, colorectal and ovarian cancer (PLCO) screening trial.Gynecol Oncol. 2008; 110: 383-389
- Early detection of ovarian cancer using the risk of ovarian cancer algorithm with frequent CA125 testing in women at increased familial risk: combined results from two screening trials.Clin Cancer Res. 2017; 23: 3628-3637
- Evidence of stage shift in women diagnosed with ovarian cancer during phase ii of the United Kingdom familial ovarian cancer screening study.J Clin Oncol. 2017; 35: 1411-1420
- Surveillance for endometrial cancer in the hereditary nonpolyposis colorectal cancer syndrome.Int J Cancer. 2007; 120: 821-824
- Improvement of endometrial biopsy over transvaginal ultrasound alone for endometrial surveillance in women with Lynch syndrome.Fam Cancer. 2009; 8: 391
- The outcome of endometrial carcinoma surveillance by ultrasound scan in women at risk of hereditary nonpolyposis colorectal carcinoma and familial colorectal carcinoma.Cancer. 2002; 94: 1708-1712
- Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation.New Engl J Med. 2002; 346: 1609-1615
- Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study.J Clin Oncol. 2008; 26: 1331-1337
- Mortality after bilateral salpingo-oophorectomy in BRCA1 and BRCA2 mutation carriers: a prospective cohort study.Lancet Oncol. 2006; 7: 223-229
- Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality.JAMA. 2010; 304: 967-975
- Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation.J Clin Oncol. 2014; 32: 1547-1553
- Prophylactic salpingectomy and delayed oophorectomy as an alternative for BRCA mutation carriers.Obstetrics Gynecol. 2013; 121: 14-24
- Acceptability of prophylactic salpingectomy with delayed oophorectomy as risk-reducing surgery among BRCA mutation carriers.Gynecol Oncol. 2014; 133: 283-286
- The role of risk-reducing surgery in hereditary breast and ovarian cancer.New Engl J Med. 2016; 374: 454-468
- Oral contraceptive use and breast or ovarian cancer risk in BRCA1/2 carriers: a meta-analysis.Eur J Cancer. 2010; 46: 2275-2284
- Modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: a systematic review and meta-analysis.J Natl Cancer Inst. 2014; 106: dju091
- Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2: national surgical adjuvant breast and bowel project (NSABP-P1) breast cancer prevention trial.JAMA. 2001; 286: 2251-2256
- Tamoxifen for prevention of breast cancer: report of the national surgical adjuvant breast and bowel project P-1 study.J Natl Cancer Inst. 1998; 90: 1371-1388
- Use of medications to reduce risk for primary breast cancer: a systematic review for the U.S. preventive services task force.Ann Intern Med. 2013; 158: 604-614
- Effects of tamoxifen vs raloxifene on the risk of developing invasive breast cancer and other disease outcomes: the NSABP study of tamoxifen and raloxifene (STAR) p-2 trial.JAMA. 2006; 295: 2727-2741
- Update of the national surgical adjuvant breast and bowel project study of tamoxifen and raloxifene (STAR) P-2 trial: preventing breast cancer.Cancer Prev Res (Phila). 2010; 3: 696-706
- Benefit/risk assessment for breast cancer chemoprevention with raloxifene or tamoxifen for women age 50 years or older.J Clin Oncol. 2011; 29: 2327-2333
- Anastrozole for prevention of breast cancer in high-risk postmenopausal women (IBIS-II): an international, double-blind, randomised placebo-controlled trial.Lancet. 2014; 383: 1041-1048
- Exemestane for breast-cancer prevention in postmenopausal women.New Engl J Med. 2011; 364: 2381-2391
- Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome.New Engl J Med. 2006; 354: 261-269
- Gynecologic cancer prevention in Lynch syndrome/hereditary nonpolyposis colorectal cancer families.Obstet Gynecol. 2007; 110: 18-25
- ACOG Practice bulletin no. 147: Lynch syndrome.Obstetrics Gynecol. 2014; 124: 1042-1054
- Oral contraceptive use for the primary prevention of ovarian cancer.Evid Rep Tevhnol Assess (Full Rep). 2013; 212: 1-514
- Endometrial cancer and oral contraceptives: an individual participant meta-analysis of 27 276 women with endometrial cancer from 36 epidemiological studies.Lancet Oncol. 2015; 16: 1061-1070
Conflict of Interest Statement: The authors report no conflict of interest.