Family history of cancer predicts endometrial cancer risk independently of Lynch Syndrome: Implications for genetic counselling

Gynecologic Oncology

Volumn 147, Issue 2, 2017, Pages 381-387

  Johnatty, Sharon E ^a   Tan, Yen Y ^a,b   Buchanan, Daniel D ^c,d,e   Bowman, Michael ^a   Walters, Rhiannon J ^a   Obermair, Andreas ^f   Quinn, Michael A ^c   Blomfield, Penelope B ^g   Brand, Alison ^h   Leung, Yee ⁱ   Oehler, Martin K ^j   Kirk, Judy A ^k   O'Mara, Tracy A ^a   Webb, Penelope M ^a   Spurdle, Amanda B ^a  

^a QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^b UNIV KLIN FÜR FRAUENHEILKUNDE   (Austria)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d UNIVERSITY OF MELBOURNE   (Australia)

^e ROYAL MELBOURNE HOSPITAL   (Australia)

^f UNIVERSITY OF QUEENSLAND   (Australia)

^g ROYAL HOBART HOSPITAL   (Australia)

^h UNIVERSITY OF SYDNEY   (Australia)

ⁱ UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^j ROYAL ADELAIDE HOSPITAL   (Australia)

^k UNIVERSITY OF SYDNEY   (Australia)

more..

Author keywords

Endometrial cancer; Family cancer history; Lynch syndrome; Mismatch repair; Risk

Indexed keywords

ADULT; ARTICLE; BREAST CANCER; CANCER DIAGNOSIS; CANCER RISK; COLORECTAL CANCER; CONTROLLED STUDY; ENDOMETRIUM CANCER; FAMILY HISTORY; FEMALE; GENE EXPRESSION; GENETIC COUNSELING; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; MAJOR CLINICAL STUDY; MISMATCH REPAIR; OVARY CANCER; POPULATION BASED CASE CONTROL STUDY; PREDICTION; PRIORITY JOURNAL; QUESTIONNAIRE; RISK FACTOR; SECOND-DEGREE RELATIVE; STOMACH CANCER; THYROID CANCER; ANAMNESIS; AUSTRALIA; CASE CONTROL STUDY; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; ENDOMETRIAL NEOPLASMS; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; PROCEDURES; STATISTICAL MODEL;

AUSTRALIA; CASE-CONTROL STUDIES; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; ENDOMETRIAL NEOPLASMS; FEMALE; GENETIC COUNSELING; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LOGISTIC MODELS; MEDICAL HISTORY TAKING; MIDDLE AGED;

EID: 85027406843     PISSN: 00908258     EISSN: 10956859     Source Type: Journal    
DOI: 10.1016/j.ygyno.2017.08.011     Document Type: Article

References (30)

1. Ferlay, J., Soerjomataram, I., Dikshit, R., Eser, S., Mathers, C., Rebelo, M., et al. Cancer incidence and mortality worldwide: sources, methods and major patterns in GLOBOCAN 2012. Int. J. Cancer 136 (2015), E359–86.
2. Siegel, R.L., Miller, K.D., Jemal, A., Cancer statistics, 2015. CA Cancer J. Clin. 65 (2015), 5–29.
3. Trabert, B., Wentzensen, N., Felix, A.S., Yang, H.P., Sherman, M.E., Brinton, L.A., Metabolic syndrome and risk of endometrial cancer in the united states: a study in the SEER-medicare linked database. Cancer Epidemiol. Biomark. Prev. 24 (2015), 261–267.
4. Morice, P., Leary, A., Creutzberg, C., Abu-Rustum, N., Darai, E., Endometrial cancer. Lancet 387 (2016), 1094–1108.
5. Win, A.K., Reece, J.C., Ryan, S., Family history and risk of endometrial cancer: a systematic review and meta-analysis. Obstet. Gynecol. 125 (2015), 89–98.
6. O'Mara, T.A., Glubb, D.M., Painter, J.N., Cheng, T., Dennis, J., Australian National Endometrial Cancer Study G, et al. Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer. Endocr. Relat. Cancer 22 (2015), 851–861.
7. Carvajal-Carmona, L.G., O'Mara, T.A., Painter, J.N., Lose, F.A., Dennis, J., Michailidou, K., et al. Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk. Hum. Genet. 134 (2015), 231–245.
8. Thompson, D.J., O'Mara, T.A., Glubb, D.M., Painter, J.N., Cheng, T., Folkerd, E., et al. CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer. Endocr. Relat. Cancer 23 (2016), 77–91.
9. Chen, M.M., O'Mara, T.A., Thompson, D.J., Painter, J.N., Australian National Endometrial Cancer Study G, Attia, J., et al. GWAS meta-analysis of 16,852 women identifies new susceptibility locus for endometrial cancer. Hum. Mol. Genet. 25 (2016), 2612–2620.
10. Cheng, T.H., Thompson, D.J., O'Mara, T.A., Painter, J.N., Glubb, D.M., Flach, S., et al. Five endometrial cancer risk loci identified through genome-wide association analysis. Nat. Genet. 48 (2016), 667–674.
11. Painter, J.N., O'Mara, T.A., Batra, J., Cheng, T., Lose, F.A., Dennis, J., et al. Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk. Hum. Mol. Genet. 24 (2015), 1478–1492.
12. Spurdle, A.B., Thompson, D.J., Ahmed, S., Ferguson, K., Healey, C.S., O'Mara, T., et al. Genome-wide association study identifies a common variant associated with risk of endometrial cancer. Nat. Genet. 43 (2011), 451–454.
13. Spurdle, A.B., Bowman, M.A., Shamsani, J., Kirk, J., Endometrial cancer gene panels: clinical diagnostic versus research germline DNA testing. Mod. Pathol. 30 (2017), 1048–1068.
14. Group SGOCPECW, Burke, W.M., Orr, J., Leitao, M., Salom, E., Gehrig, P., et al. Endometrial cancer: a review and current management strategies: part I. Gynecol. Oncol. 134 (2014), 385–392.
15. Tan, M.H., Mester, J.L., Ngeow, J., Rybicki, L.A., Orloff, M.S., Eng, C., Lifetime cancer risks in individuals with germline PTEN mutations. Clin. Cancer Res. 18 (2012), 400–407.
16. Black, D., Bogomolniy, F., Robson, M.E., Offit, K., Barakat, R.R., Boyd, J., Evaluation of germline PTEN mutations in endometrial cancer patients. Gynecol. Oncol. 96 (2005), 21–24.
17. Bellido, F., Pineda, M., Aiza, G., Valdes-Mas, R., Navarro, M., Puente, D.A., et al. 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. 18 (2016), 325–332.
18. Segev, Y., Iqbal, J., Lubinski, J., Gronwald, J., Lynch, H.T., Moller, P., et al. The incidence of endometrial cancer in women with BRCA1 and BRCA2 mutations: an international prospective cohort study. Gynecol. Oncol. 130 (2013), 127–131.
19. Tan, Y.Y., McGaughran, J., Ferguson, K., Walsh, M.D., Buchanan, D.D., Young, J.P., et al. Improving identification of lynch syndrome patients: a comparison of research data with clinical records. Int. J. Cancer 132 (2013), 2876–2883.
20. Buchanan, D.D., Tan, Y.Y., Walsh, M.D., Clendenning, M., Metcalf, A.M., Ferguson, K., et al. Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing. J. Clin. Oncol. Off. J. Am. Soc. Clin. Oncol. 32 (2014), 90–100.
21. Vasen, H.F., Watson, P., Mecklin, J.P., Lynch, H.T., New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 116 (1999), 1453–1456.
22. Cook, L.S., Nelson, H.E., Stidley, C.A., Dong, Y., Round, P.J., Amankwah, E.K., et al. Endometrial cancer and a family history of cancer. Gynecol. Oncol. 130 (2013), 334–339.
23. Seger, H.M., Soisson, A.P., Dodson, M.K., Rowe, K.G., Cannon-Albright, L.A., Familial clustering of endometrial cancer in a well-defined population. Gynecol. Oncol. 122 (2011), 75–78.
24. Rowlands, I.J., Nagle, C.M., Spurdle, A.B., Webb, P.M., Australian National Endometrial Cancer Study G, Australian Ovarian Cancer Study G, Gynecological conditions and the risk of endometrial cancer. Gynecol. Oncol. 123 (2011), 537–541.
25. Mogensen, J.B., Kjaer, S.K., Mellemkjaer, L., Jensen, A., Endometriosis and risks for ovarian, endometrial and breast cancers: a nationwide cohort study. Gynecol. Oncol. 143 (2016), 87–92.
26. Fiederling, J., Shams, A.Z., Haug, U., Validity of self-reported family history of cancer: a systematic literature review on selected cancers. Int. J. Cancer 139 (2016), 1449–1460.
27. Murff, H.J., Spigel, D.R., Syngal, S., Does this patient have a family history of cancer? An evidence-based analysis of the accuracy of family cancer history. JAMA 292 (2004), 1480–1489.
28. Sijmons, R.H., Boonstra, A.E., Reefhuis, J., Hordijk-Hos, J.M., de Walle, H.E., Oosterwijk, J.C., et al. Accuracy of family history of cancer: clinical genetic implications. Eur. J. Hum. Genet. 8 (2000), 181–186.
29. Ivanovich, J., Babb, S., Goodfellow, P., Mutch, D., Herzog, T., Rader, J., et al. Evaluation of the family history collection process and the accuracy of cancer reporting among a series of women with endometrial cancer. Clin. Cancer Res. 8 (2002), 1849–1856.
30. Freedman, R.A., Garber, J.E., Family cancer history: healthy skepticism required. J. Natl. Cancer Inst. 103 (2011), 776–777.