Top

Published in:

01-12-2009

Cancer prevention and screening practices among women at risk for hereditary breast and ovarian cancer after genetic counseling in the community setting

Authors: Debra Morgan, Heather Sylvester, F. Lee Lucas, Susan Miesfeldt

Published in: Familial Cancer | Issue 4/2009

Abstract

The context is that there are limited data regarding the management of women at risk for hereditary breast and ovarian cancer (HBOC) after genetic counseling in the community setting. The objective of the study is to examine the cancer screening and prevention behaviors among women with diverse risk factors for HBOC, counseled through a non-academic genetic counseling service. This study was designed as a retrospective telephone survey. A community/private-hospital based cancer genetic counseling service was setting. The patients studied were women, at least 21 years of age, who had undergone cancer genetic counseling with: (1) a ≥10% predicted likelihood of carrying a BRCA1/2 mutation; (2) a documented BRCA1/2 mutation. A 121-item telephone survey was intervened. Main outcome measures are (1) reason for referral, (2) genetic testing/results, and (3) screening and prevention behaviors. Sixty-nine women participated (31% response rate). Forty-nine (71%) respondents had a history of breast cancer. Forty-three women (62%) reported undergoing BRCA1/2 testing, of these, seven (16%) had a deleterious mutation; 32 (74%) received negative results and four (9%) had “inconclusive” findings. Among the seven with documented mutations; five had a personal history of breast cancer; none had a history of ovarian cancer; all had undergone bilateral salpingo-oophorectomy (BSO), while five (71%) had undergone bilateral mastectomy. Among those 62 respondents without a documented mutation, pretest likelihood of a BRCA1/2 mutation (based on established models) was as follows: 10–29% likelihood in 38 (61%); 30–59% likelihood in 16 (26%); and ≥60% likelihood in eight (13%). Of these, 16 (26%) had undergone bilateral mastectomy for treatment and/or risk-reduction while 20 (32%) had undergone BSO for risk-reduction or for “other reasons”. Almost all who had not undergone bilateral mastectomy were presenting for regular mammograms; fewer were undergoing regular breast MRI imaging. For those who had not undergone risk-reducing BSO; few were having CA-125 levels or transvaginal ultrasounds. Among those studied, the majority underwent genetic testing. A significant percentage elected to undergo risk-reducing mastectomy and BSO. Although prophylactic surgical decisions appeared to be largely influenced by BRCA mutation status, a number of women in the lower risk categories had undergone these procedures.

Lynch HT, Snyder CL et al (2003) Hereditary breast ovarian cancer at the bedside: role of the medical oncologist. J Clin Oncol 21(4):740–753. doi:10.1200/JCO.2003.05.096 CrossRefPubMed

Narod SA, Foulkes WD (2004) BRCA1 and BRCA2: 1994 and beyond. Nat Rev Cancer 4(9):665–676. doi:10.1038/nrc1431 CrossRefPubMed

Ford D, Easton DF et al (1998) Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The breast cancer linkage consortium. Am J Hum Genet 62(3):676–689. doi:10.1086/301749 CrossRefPubMed

Antoniou A, Pharoah PD et al (2003) 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 72(5):1117–1130. doi:10.1086/375033 CrossRefPubMed

Easton DF, Steele L et al (1997) Cancer risks in two large breast cancer families linked to BRCA2 on chromosome 13q12–13. Am J Hum Genet 61(1):120–128. doi:10.1086/513891 CrossRefPubMed

Struewing JP, Hartge P et al (1997) The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med 336(20):1401–1408. doi:10.1056/NEJM199705153362001 CrossRefPubMed

The Breast Cancer Linkage Consortium (1999) Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst 91(15):1310–1316. doi:10.1093/jnci/91.15.1310 CrossRef

Brose MS, Rebbeck TR et al (2002) Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program. J Natl Cancer Inst 94(18):1365–1372PubMed

Thompson D, Easton DF (2002) Cancer incidence in BRCA1 mutation carriers. J Natl Cancer Inst 94(18):1358–1365PubMed

10.

Chen S, Parmigiani G (2007) Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol 25(11):1329–1333. doi:10.1200/JCO.2006.09.1066 CrossRefPubMed

11.

U.S. Preventive Services Task Force (2005) Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: recommendation statement. Ann Intern Med 143(5):355–361

12.

Kauff ND, Domchek SM et al (2008) Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study. J Clin Oncol 26(8):1331–1337. doi:10.1200/JCO.2007.13.9626 CrossRefPubMed

13.

Herrinton LJ, Barlow WE et al (2005) Efficacy of prophylactic mastectomy in women with unilateral breast cancer: a cancer research network project. J Clin Oncol 23(19):4275–4286. doi:10.1200/JCO.2005.10.080 CrossRefPubMed

14.

Domchek SM, Friebel TM et al (2006) Mortality after bilateral salpingo-oophorectomy in BRCA1 and BRCA2 mutation carriers: a prospective cohort study. Lancet Oncol 7(3):223–229. doi:10.1016/S1470-2045(06)70585-X CrossRefPubMed

15.

Gronwald J, Tung N et al (2006) Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: an update. Int J Cancer 118(9):2281–2284. doi:10.1002/ijc.21536 CrossRefPubMed

16.

Epplein M, Koon KP et al (2005) Genetic services for familial cancer patients: a follow-up survey of National Cancer Institute Cancer Centers. J Clin Oncol 23(21):4713–4718. doi:10.1200/JCO.2005.00.133 CrossRefPubMed

17.

Friedman LC, Cooper HP et al (2003) Primary care physicians’ attitudes and practices regarding cancer genetics: a comparison of 2001 with 1996 survey results. J Cancer Educ 18(2):91–94. doi:10.1207/S15430154JCE1802_11 CrossRefPubMed

18.

Wideroff L, Freedman AN et al (2003) Physician use of genetic testing for cancer susceptibility: results of a national survey. Cancer Epidemiol Biomarkers Prev 12(4):295–303PubMed

19.

Tinley ST, Houfek J et al (2004) Screening adherence in BRCA1/2 families is associated with primary physicians’ behavior. Am J Med Genet 125(1):5–11. doi:10.1002/ajmg.a.20431 CrossRef

20.

Lerman C, Hughes C et al (2000) Prophylactic surgery decisions and surveillance practices one year following BRCA1/2 testing. Prev Med 31(1):75–80. doi:10.1006/pmed.2000.0684 CrossRefPubMed

21.

Botkin JR, Smith KR et al (2003) Genetic testing for a BRCA1 mutation: prophylactic surgery and screening behavior in women 2 years post testing. Am J Med Genet 118(3):201–209. doi:10.1002/ajmg.a.10102 CrossRef

22.

Meijers-Heijboer H, Brekelmans CT et al (2003) Use of genetic testing and prophylactic mastectomy and oophorectomy in women with breast or ovarian cancer from families with a BRCA1 or BRCA2 mutation. J Clin Oncol 21(9):1675–1681. doi:10.1200/JCO.2003.09.052 CrossRefPubMed

23.

Peshkin BN, Schwartz MD et al (2002) Utilization of breast cancer screening in a clinically based sample of women after BRCA1/2 testing. Cancer Epidemiol Biomarkers Prev 11(10 Pt 1):1115–1118PubMed

24.

Scheuer L, Kauff N et al (2002) Outcome of preventive surgery and screening for breast and ovarian cancer in BRCA mutation carriers. J Clin Oncol 20(5):1260–1268. doi:10.1200/JCO.20.5.1260 CrossRefPubMed

25.

Isaacs C, Peshkin BN et al (2002) Breast and ovarian cancer screening practices in healthy women with a strong family history of breast or ovarian cancer. Breast Cancer Res Treat 71(2):103–112. doi:10.1023/A:1013800409238 CrossRefPubMed

26.

Metcalfe KA, Jan Lubinski J et al (2008) Predictors of contralateral prophylactic mastectomy in women with a BRCA1 or BRCA2 mutation: the hereditary breast cancer clinical study group. J Clin Oncol 26(7):1093–1097. doi:10.1200/JCO.2007.12.6078 CrossRefPubMed

27.

Barcenas CH, Hosain GM et al (2006) Assessing BRCA carrier probabilities in extended families. J Clin Oncol 24(3):354–360. doi:10.1200/JCO.2005.02.2368 CrossRefPubMed

28.

James PA, Doherty R et al (2006) Optimal selection of individuals for BRCA mutation testing: a comparison of available methods. J Clin Oncol 24(4):707–715. doi:10.1200/JCO.2005.01.9737 CrossRefPubMed

29.

Burke W, Daly M, Garber J et al (1997) Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II. BRCA1 and BRCA2. Cancer Genetics Studies Consortium. JAMA 277(12):997–1003. doi:10.1001/jama.277.12.997 CrossRefPubMed

30.

NCCN Breast Cancer Panel (2000) NCCN practice guidelines for genetics/familial high-risk screening. Breast, Version 1

31.

Tinley S et al (2004) Screening adherence in BRCA 1/2 families is associated with primary physicians’ behavior. Am J Med Genet 125A(1):5–11. doi:10.1002/ajmg.a.20431 CrossRefPubMed

32.

Wooster R, Weber BL (2003) Breast and ovarian cancer. N Engl J Med 348(23):2339–2347. doi:10.1056/NEJMra012284 CrossRefPubMed

33.

McClain MR, Palomaki GE et al (2005) Adjusting the estimated proportion of breast cancer cases associated with BRCA1 and BRCA2 mutations: public health implications. Genet Med 7(1):28–33. doi:10.1097/01.GIM.0000151155.36470.FF PubMedCrossRef

34.

Lerman C, Narod S et al (1996) BRCA1 testing in families with hereditary breast-ovarian cancer. A prospective study of patient decision making and outcomes. JAMA 275(24):1885–1892. doi:10.1001/jama.275.24.1885 CrossRefPubMed

35.

Hartmann LC, Sellers TA et al (2001) Efficacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 gene mutation carriers. J Natl Cancer Inst 93(21):1633–1637PubMedCrossRef

36.

Kauff ND, Satagopan JM et al (2002) Risk-reducing salpingooophorectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med 346(21):1609–1615. doi:10.1056/NEJMoa020119 CrossRefPubMed

37.

King MC, Wieand S et al (2001) 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 286(18):2251–2256. doi:10.1001/jama.286.18.2251 CrossRefPubMed

38.

Armstrong K, Quistberg DA et al (2006) Prescription of tamoxifen for breast cancer prevention by primary care physicians. Arch Intern Med 166(20):2260–2265. doi:10.1001/archinte.166.20.2260 CrossRefPubMed

39.

Taylor R, Taguchi K (2005) Tamoxifen for breast cancer chemoprevention: low uptake by high-risk women after evaluation of a breast lump. Ann Fam Med 3(3):242–247. doi:10.1370/afm.284 CrossRefPubMed

40.

Stoutjesdijk MJ, Boetes C et al (2001) Magnetic resonance imaging and mammography in women with a hereditary risk of breast cancer. J Natl Cancer Inst 93(14):1095–1102. doi:10.1093/jnci/93.14.1095 CrossRefPubMed

41.

Kriege M, Brekelman CT et al (2004) Efficacy of MRI and mammography for breast cancer screening in women with a familial or genetic predisposition. N Engl J Med 351(5):427–437. doi:10.1056/NEJMoa031759 CrossRefPubMed

42.

Leach MO, Boggis CR et al (2005) Screening with magnetic resonance imaging and mammography in a UK population at high familial risk of breast cancer : a prospective multicentre cohort study (MARIBS). Lancet 365(9473):1769–1778. doi:10.1016/S0140-6736(05)66481-1 CrossRefPubMed

43.

Warner E, Plewes DB et al (2004) Surveillance of BRCA1 and BRCA2 mutation carriers with magnetic resonance imaging, ultrasound, mammography, and clinical breast examination. JAMA 292:1317–1325. doi:10.1001/jama.292.11.1317 CrossRefPubMed

44.

Saslow D et al (2007) American cancer society guidelines breast screening with MRI as an adjunct to mammography. CA Cancer J Clin 57:75–89CrossRefPubMed

Title: Cancer prevention and screening practices among women at risk for hereditary breast and ovarian cancer after genetic counseling in the community setting
Authors: Debra Morgan
Heather Sylvester
F. Lee Lucas
Susan Miesfeldt
Publication date: 01-12-2009
Publisher: Springer Netherlands
Published in: Familial Cancer / Issue 4/2009
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-009-9242-z

Webinar | 19-02-2024 | 17:30 (CET)

Keynote webinar | Spotlight on antibody–drug conjugates in cancer

Watch now

Antibody–drug conjugates (ADCs) are novel agents that have shown promise across multiple tumor types. Explore the current landscape of ADCs in breast and lung cancer with our experts, and gain insights into the mechanism of action, key clinical trials data, existing challenges, and future directions.

Dr. Véronique Diéras

Prof. Fabrice Barlesi

Developed by: Springer Medicine

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 4/2009

Strategies for endometrial screening in the Lynch syndrome population: a patient acceptability study

CHEK2*1100delC does not contribute to risk to breast cancer among Malay, Chinese and Indians in Malaysia

Genetic polymorphism in ornithine decarboxylase and risk of breast cancer

Low contribution of BRCA1/2 genomic rearrangement to high-risk breast cancer in the Korean population

Mutation screening of VHL gene in a family with malignant bilateral pheochromocytoma: from isolated familial pheochromocytoma to von Hippel-Lindau disease

Determination of splice-site mutations in Lynch syndrome (hereditary non-polyposis colorectal cancer) patients using functional splicing assay

Keynote webinar | Spotlight on antibody–drug conjugates in cancer