International Journal of Clinical Oncology

, Volume 19, Issue 6, pp 1043–1051 | Cite as

Development of an integrated support system for hereditary cancer and its impact on gynecologic services

  • Mina Morii-Kashima
  • Hiroshi Tsubamoto
  • Chika Sato
  • Mariko Ushioda
  • Naohiro Tomita
  • Yasuo Miyoshi
  • Tomoko Hashimoto-Tamaoki
  • Kazuo Tamura
  • Hideaki Sawai
  • Hiroaki Shibahara
Original Article



Patients with hereditary cancer need an integrated support system. A recently launched project was evaluated in terms of its efficacy in screening patients with hereditary cancer at the gynecologic service.


The project team comprised gynecologists, surgeons, medical geneticists, and certified genetic counselors (CGCs) in our hospital. At the gynecologic service, a newly developed self-administered family history questionnaire (SAFHQ) was given to patients with ovarian, endometrial, or breast cancer as well as a history of multiple cancers. After an interview, a CGC constructed a pedigree and evaluated the risk for hereditary cancer. Patients at risk were recommended by a gynecologist to receive further genetic counseling at the Department of Genetics according to the modified Bethesda criteria, Amsterdam II criteria, and National Comprehensive Cancer Network (NCCN) guidelines 2012 for breast–ovarian cancer syndrome (HBOC). The numbers of newly screened patients were compared before and after the project launch.


The SAFHQ was administered to 131 patients and 106 (81 %) pedigrees were constructed between August 2012 and July 2013. The number of newly screened patients according to the Bethesda criteria was 4 and 8 at 10 years before and 1 year after the project launch, respectively. Two and 31 patients met the NCCN criteria for HBOC excluding ovarian cancer alone, respectively, at these 2 time points. Of 54 patients who were recommended to undergo further counseling, 10 (19 %) visited the Department of Genetics.


After the launch of an integrated support system, the number of patients with hereditary cancers who were screened increased. The gynecologic service played a pivotal role in patient and family care.


Gynecology Lynch syndrome Hereditary breast and ovarian cancer Genetic counseling PDSA cycle 


  1. 1.
    Pal T, Permuth-Wey J, Betts JA et al (2005) BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases. Cancer 104:2807–2816PubMedCrossRefGoogle Scholar
  2. 2.
    Lu KH (2008) Hereditary gynecologic cancers: differential diagnosis, surveillance, management and surgical prophylaxis. Fam Cancer 7:53–58PubMedCrossRefGoogle Scholar
  3. 3.
    Hampel H, Frankel W, Panescu J et al (2006) Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res 66:7810–7817PubMedCrossRefGoogle Scholar
  4. 4.
    Dinh TA, Rosner BI, Atwood JC et al (2011) Health benefits and cost-effectiveness of primary genetic screening for Lynch syndrome in the general population. Cancer Prev Res (Phila) 4:9–22PubMedCentralCrossRefGoogle Scholar
  5. 5.
    Komata D, Yahata T, Kodama S et al (2009) The prevalence of hereditary breast/ovarian cancer risk in patients with a history of breast or ovarian cancer in Japanese subjects. Obstet Gynecol Res 35:912–917CrossRefGoogle Scholar
  6. 6.
    Aoki D, Udagawa Y, Ohwada M et al (2009) A report of Fujinka-Shuyo-Iinnkai. Acta Obstet Gynaecol Jpn 61:1540–1541Google Scholar
  7. 7.
    Kaneko K, Ohsumi S, Aogi K et al (2013) Genetic counseling and practice of hereditary cancers at Shikoku Cancer Center. Gan To Kagaku Ryoho 40:139–142PubMedGoogle Scholar
  8. 8.
    Lu KH (2008) Hereditary gynecologic cancer: Risk, prevention, and management. Informa HealthcareGoogle Scholar
  9. 9.
    Umar A, Boland CR, Terdiman JP et al (2004) Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 96:261–268PubMedCentralPubMedCrossRefGoogle Scholar
  10. 10.
    Vasen HF (2000) Clinical diagnosis and management of hereditary colorectal cancer syndromes. J Clin Oncol 18(21 Suppl):81–92Google Scholar
  11. 11.
    Masuda K, Banno K, Hirasawa A et al (2012) Relationship of lower uterine segment cancer with Lynch syndrome: a novel case with an hMLH1 germline mutation. Oncol Rep 28:1537–1543PubMedCentralPubMedGoogle Scholar
  12. 12.
  13. 13.
    Yang K, Allen B, Conrad P et al (2006) Awareness of gynecologic surveillance in women from hereditary non-polyposis colorectal cancer families. Fam Cancer 5:405–409PubMedCrossRefGoogle Scholar
  14. 14.
    Domanska K, Carlsson C, Bendahl PO et al (2009) Knowledge about hereditary nonpolyposis colorectal cancer; mutation carriers and physicians at equal levels. BMC Med Genet 10:30PubMedCentralPubMedCrossRefGoogle Scholar
  15. 15.
    Ketabi Z, Mosgaard BJ, Gerdes AM et al (2012) Awareness of endometrial cancer risk and compliance with screening in hereditary nonpolyposis colorectal cancer. Obstet Gynecol 120:1005–1012PubMedGoogle Scholar
  16. 16.
    Salemink S, Dekker N, Kets CM et al (2013) Focusing on patient needs and preferences may improve genetic counseling for colorectal cancer. J Genet Couns 22:118–124PubMedCentralPubMedCrossRefGoogle Scholar
  17. 17.
    Soliman PT, Oh JC, Schmeler KM et al (2005) Risk factors for young premenopausal women with endometrial cancer. Obstet Gynecol 105:575–580PubMedCrossRefGoogle Scholar
  18. 18.
    Morgan D, Sylvester H, Lucas FL et al (2010) Hereditary breast and ovarian cancer: referral source for genetic assessment and communication regarding assessment with nongenetic clinicians in the community setting. Genet Med 12:25–31PubMedCrossRefGoogle Scholar
  19. 19.
    Loren AW, Mangu PB, Beck LN et al (2013) Fertility preservation for patients with cancer: American Society of Clinical Oncology Clinical Practice Guideline Update. J Clin Oncol 31:2500–2510PubMedCrossRefGoogle Scholar
  20. 20.
    Shulman LP (2010) Hereditary breast and ovarian cancer (HBOC): clinical features and counseling for BRCA1 and BRCA2, Lynch syndrome, Cowden syndrome, and Li-Fraumeni syndrome. Obstet Gynecol Clin N Am 37:109–133CrossRefGoogle Scholar
  21. 21.
    Wood M, Kadlubek P, Lu KH et al (2012) Quality of cancer family history and referral for genetic counseling and testing among oncology practices: a pilot test of quality measures as part of the ASCO Quality Oncology Practice Initiative (QOPI). J Clin Oncol 30 (suppl; abstr CRA1505)Google Scholar
  22. 22.
    Murff HJ, Spigel DR, Syngal S (2004) Does this patient have a family history of cancer? An evidence-based analysis of the accuracy of family cancer history. JAMA 292:1480–1489PubMedCrossRefGoogle Scholar
  23. 23.
    Mai PL, Garceau AO, Graubard BI et al (2011) Confirmation of family cancer history reported in a population-based survey. J Natl Cancer Inst 103:788–797PubMedCentralPubMedCrossRefGoogle Scholar
  24. 24.
    Vogel TJ, Stoops K, Bennett RL et al (2012) A self-administered family history questionnaire improves identification of women who warrant referral to genetic counseling for hereditary cancer risk. Gynecol Oncol 125:693–698PubMedCrossRefGoogle Scholar
  25. 25.
    Ooseto K, Arakawa A, Ando M et al (2012) Usefulness of the family career hearing in the interview vote with Lynch syndrome. Tokai Sanka Fujinka Gakkai Zasshi 49:303–307Google Scholar
  26. 26.
    Patenaude AF (2005) Genetic testing for cancer: psychological approaches for helping patients and families. American Psychological Association, Washington, DCCrossRefGoogle Scholar
  27. 27.
    Rosenthal AN, Fraser L, Manchanda R et al (2013) Results of annual screening in phase I of the United Kingdom familial ovarian cancer screening study highlight the need for strict adherence to screening schedule. J Clin Oncol 31:49–57PubMedCentralPubMedCrossRefGoogle Scholar
  28. 28.
    Lancaster JM, Powell CB, Kauff ND et al (2007) Society of Gynecologic Oncologists Education Committee statement on risk assessment for inherited gynecologic cancer predispositions. Gynecol Oncol 107:159–162PubMedCrossRefGoogle Scholar
  29. 29.
    Resnick KE, Hampel H, Fishel R et al (2009) Current and emerging trends in Lynch syndrome identification in women with endometrial cancer. Gynecol Oncol 114:128–134PubMedCentralPubMedCrossRefGoogle Scholar
  30. 30.
    Lu KH, Schorge JO, Rodabaugh KJ et al (2007) Prospective determination of prevalence of lynch syndrome in young women with endometrial cancer. J Clin Oncol 25:5158–5164PubMedCrossRefGoogle Scholar
  31. 31.
    Matthews KS, Estes JM, Conner MG et al (2008) Lynch syndrome in women less than 50 years with endometrial cancer. Obstet Gynecol 111:1161–1166PubMedCentralPubMedCrossRefGoogle Scholar
  32. 32.
    Shih KK, Garg K, Levine DA et al (2011) Clinicopathologic significance of DNA mismatch repair protein defects and endometrial cancer in women 40 years of age and younger. Gynecol Oncol 123:88–94PubMedCrossRefGoogle Scholar
  33. 33.
    Ring KL, Connor EV, Atkins KA et al (2013) Women 50 years or younger with endometrial cancer: the argument for universal mismatch repair screening and potential for targeted therapeutics. Int J Gynecol Cancer 23:853–860PubMedCrossRefGoogle Scholar
  34. 34.
    Cohn DE, Frankel W, Resnick KE et al (2006) Improved survival with an intact DNA mismatch repair system in endometrial cancer. Obstet Gynecol 108:1208–1215PubMedCrossRefGoogle Scholar
  35. 35.
    Kauff ND (2007) How should women with early-onset endometrial cancer be evaluated for lynch syndrome? J Clin Oncol 25:5143–5146PubMedCrossRefGoogle Scholar
  36. 36.
    Günther K, Horbach T, Hohenberger W et al (2000) Colonic late-onset familial adenomatous polyposis combined with severe duodenal polyposis and familial endometrial cancer. Am J Med 108:681–683PubMedCrossRefGoogle Scholar
  37. 37.
    Oshima S, Miyake Y, Ikeda M et al (2007) A case of an uterine and pancreatic cancer with familial adenomatous polyposis detected by FDG-PET (in Japanese). Surgery 69:237–240Google Scholar
  38. 38.
    Iwama T, Tamura K, Morita T et al (2004) A clinical overview of familial adenomatous polyposis derived from the database of the Polyposis Registry of Japan. Int J Clin Oncol 9:308–316PubMedCrossRefGoogle Scholar
  39. 39.
    Schorge JO, Modesitt SC, Coleman RL et al (2010) SGO White Paper on ovarian cancer: etiology, screening and surveillance. Gynecol Oncol 119:7–17PubMedCrossRefGoogle Scholar
  40. 40.
    Auranen A, Joutsiniemi T (2011) A systematic review of gynecological cancer surveillance in women belonging to hereditary nonpolyposis colorectal cancer (Lynch syndrome) families. Acta Obstet Gynecol Scand 90:437–444PubMedCrossRefGoogle Scholar
  41. 41.
    Inoue K, Tsubamoto H, Hao H et al (2013) Ovarian carcinoma in situ of presumable fallopian tube origin in a patient with Lynch syndrome: a case report. Gynecol Oncol Case Rep 5:61–63Google Scholar
  42. 42.
    Kuppermann M, Wang G, Wong S et al (2013) Preferences for outcomes associated with decisions to undergo or forgo genetic testing for Lynch syndrome. Cancer 119:215–225PubMedCrossRefGoogle Scholar
  43. 43.
    Domchek SM, Friebel TM, Neuhausen SL et al (2006) Mortality after bilateral salpingo-oophorectomy in BRCA1 and BRCA2 mutation carriers: a prospective cohort study. Lancet Oncol 7:223–229PubMedCrossRefGoogle Scholar
  44. 44.
    Grann VR, Jacobson JS, Thomason D et al (2002) Effect of prevention strategies on survival and quality-adjusted survival of women with BRCA1/2 mutations: an updated decision analysis. J Clin Oncol 20:2520–2529PubMedCrossRefGoogle Scholar
  45. 45.
    Schmeler KM, Lynch HT, Chen LM et al (2006) Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. N Engl J Med 354:261–269PubMedCrossRefGoogle Scholar
  46. 46.
    Dhar SU, Cooper HP, Wang T et al (2011) Significant differences among physician specialties in management recommendations of BRCA1 mutation carriers. Breast Cancer Res Treat 129:221–227PubMedCentralPubMedCrossRefGoogle Scholar
  47. 47.
    Demsky R, McCuaig J, Maganti M et al (2013) Keeping it simple: genetics referrals for all invasive serous ovarian cancers. Gynecol Oncol 130:329–333PubMedCrossRefGoogle Scholar
  48. 48.
    Lacour R, Daniels M, Westin S et al (2008) What women with ovarian cancer think and know about genetic testing. Gynecol Oncol 111:132–136PubMedCentralPubMedCrossRefGoogle Scholar
  49. 49.
    Backes FJ, Mitchell E, Hampel H et al (2011) Endometrial cancer patients and compliance with genetic counseling: room for improvement. Gynecol Oncol 123:532–536PubMedCrossRefGoogle Scholar
  50. 50.
    Deming WE (1986) Out of the crisis, 1st edn. MIT Press, CambridgeGoogle Scholar
  51. 51.
    Nakayama DK, Bushey TN, Hubbard I et al (2010) Using a Plan-Do-Study-Act cycle to introduce a new or service line. AORN J 92:335–343PubMedCrossRefGoogle Scholar
  52. 52.
    Vogel P, Vassilev G, Kruse B et al (2011) Morbidity and mortality conference as part of PDCA cycle to decrease anastomotic failure in colorectal surgery. Langenbecks Arch Surg 396:1009–1015PubMedCrossRefGoogle Scholar
  53. 53.
    Oh HC, Toh HG, Giap Cheong ES (2011) Realization of process improvement at a diagnostic radiology department with aid of simulation modeling. J Healthc Qual 33:40–47PubMedCrossRefGoogle Scholar
  54. 54.
    Michael M, Schaffer SD, Egan PL et al (2013) Improving wait times and patient satisfaction in primary care. J Healthc Qual 35:50–60PubMedCrossRefGoogle Scholar
  55. 55.
    Honda O, Tsubamoto H, Ito Y et al (2013) Regional coordination for end-of-life care in our department. Jpn J Gynecol Oncol 1:1–8Google Scholar

Copyright information

© Japan Society of Clinical Oncology 2013

Authors and Affiliations

  • Mina Morii-Kashima
    • 1
  • Hiroshi Tsubamoto
    • 1
  • Chika Sato
    • 2
  • Mariko Ushioda
    • 1
  • Naohiro Tomita
    • 3
  • Yasuo Miyoshi
    • 4
  • Tomoko Hashimoto-Tamaoki
    • 2
  • Kazuo Tamura
    • 3
    • 5
  • Hideaki Sawai
    • 1
  • Hiroaki Shibahara
    • 1
  1. 1.Department of Obstetrics and GynecologyHyogo College of MedicineNishinomiyaJapan
  2. 2.Department of GeneticsHyogo College of MedicineNishinomiyaJapan
  3. 3.Division of Lower GI, Department of Lower Gastrointestinal SurgeryHyogo College of MedicineNishinomiyaJapan
  4. 4.Department of Breast and Endocrine SurgeryHyogo College of MedicineNishinomiyaJapan
  5. 5.Department of Life Science, Faculty of Science and EngineeringKinki UniversityHigashiosakaJapan

Personalised recommendations