Clinical implications of genetic testing for BRCA1 and BRCA2 mutations in Austria

Clinical Genetics

Volumn 85, Issue 1, 2014, Pages 72-75

  Singer, C F ^a   Muhr, D ^a   Rappaport, C ^a   Tea, M K ^a   Gschwantler Kaulich, D ^a   Fink Retter, A ^a   Pfeiler, G ^a   Berger, A ^a   Sun, P ^b   Narod, S A ^b  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

^b WOMEN S COLLEGE HOSPITAL   (Canada)

Author keywords

BRCA1; BRCA2; Breast cancer; Prevention; Risk

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; TAMOXIFEN;

ARTICLE; AUSTRIA; BREAST CANCER; CANCER INCIDENCE; CANCER PREVENTION; CANCER RISK; CHEMOPROPHYLAXIS; FEMALE; FOLLOW UP; GENE MUTATION; GENETIC SCREENING; HUMAN; INTRADUCTAL CARCINOMA; MAJOR CLINICAL STUDY; MASTECTOMY; NUCLEAR MAGNETIC RESONANCE IMAGING; OVARIECTOMY; OVARY CANCER; PARTIAL MASTECTOMY; PERITONEUM CANCER; PRIORITY JOURNAL; SALPINGOOOPHORECTOMY;

BRCA1; BRCA2; BREAST CANCER; PREVENTION; RISK;

ADULT; AGED; AUSTRIA; FEMALE; GENES, BRCA1; GENES, BRCA2; GENETIC TESTING; HEREDITARY BREAST AND OVARIAN CANCER SYNDROME; HETEROZYGOTE; HUMANS; INCIDENCE; MASTECTOMY; MIDDLE AGED; MUTATION; MUTATION RATE; OVARIECTOMY; QUESTIONNAIRES;

EID: 84890141579     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12216     Document Type: Article

References (24)

1. Antoniou A, Pharoah PD, Narod S et al. 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 (5): 1117-1130.
2. Ford D, Easton DF, Stratton M et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 1998: 62 (3): 676-689.
3. Lubinski J, Huzarski T, Byrski T et al. The risk of breast cancer in women with a BRCA1 mutation from North America and Poland. Int J Cancer 2011: 131 (1): 229-234.
4. Møller P, Maehle L, Vabø A, Clark N, Sun P, Narod SA. Age-specific incidence rates for breast cancer in carriers of BRCA1 mutations from Norway. Clin Genet 2013: 83 (1): 88-91.
5. Kroiss R, Winkler V, Bikas D et al. Younger birth cohort correlates with higher breast and ovarian cancer risk in European BRCA1 mutation carriers. Hum Mutat 2005: 26 (6): 583-589.
6. Passaperuma K, Warner E, Causer PA et al. Long-term results of screening with magnetic resonance imaging in women with BRCA mutations. Br J Cancer 2012: 107 (1): 24-30.
7. Møller P, Stormorken A, Jonsrud C et al. Survival of patients with BRCA1-associated breast cancer diagnosed in an MRI-based surveillance program. Breast Cancer Res Treat 2013: 139: 155-161.
8. Rebbeck TR, Friebel T, Lynch HT et al. Prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol 2004: 22 (6): 1055-1062.
9. Eisen A, Lubinski J, Klijn J et al. Breast cancer risk following oophorectomy in BRCA1 and BRCA2 mutation carriers: an international case-control study. J Clin Oncol 2005: 23 (30): 7491-7496.
10. Finch A, Beiner M, Lubinski J et al. Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 Mutation. JAMA 2006: 296 (2): 185-192.
11. Gronwald J, Tung N, Foulkes WD et al. Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: an update. Int J Cancer 2006: 118 (9): 2281-2284.
12. Huzarski T, Byrski T, Gronwald J et al. Ten year survival in BRCA1-negative and BRCA1-positive breast cancer patients. J Clin Oncol (in press).
13. Metcalfe K, Gershman S, Ghadirian P, et al. Contralateral mastectomy and survival after breast cancer in BRCA1 and BRCA2 mutation carriers (submitted).
14. Metcalfe K, Ghadirian P, Lynch HT, et al. The impact of oophorectomy on survival after breast cancer in BRCA1 and BRCA2 mutation carriers (submitted).
15. Lubinski J, Huzarski T, Byrski T et al. The risk of breast cancer in women with a BRCA1 mutation from North America and Poland. Int J Cancer 2012: 131 (1): 229-234.
16. Górski B, Jakubowska A, Huzarski T et al. A high proportion of founder BRCA1 mutations in Polish breast cancer families. Int J Cancer 2004: 110 (5): 683-686.
17. Wagner TM, Möslinger RA, Muhr D et al. BRCA1-related breast cancer in Austrian breast and ovarian cancer families: specific BRCA1 mutations and pathological characteristics. Int J Cancer 1998: 77 (3): 354-360.
18. Uglanitsa N, Oszurek O, Uglanitsa K et al. The contribution of founder mutations in BRCA1 to breast cancer in Belarus. Clin Genet 2010: 78 (4): 377-380.
19. Elsakov P, Kurtinaitis J, Petraitis S et al. The contribution of founder mutations in BRCA1 to breast and ovarian cancer in Lithuania. Clin Genet 2010: 78 (4): 373-376.
20. Sokolenko AP, Rozanov ME, Mitiushkina NV et al. Founder mutations in early-onset, familial and breast cancer patients from Russia. Fam Cancer 2007: 6 (3): 281-286.
21. Metcalfe KA, Poll A, Royer R et al. Screening for founder mutations in BRCA1 and BRCA2 in unselected Jewish women. J Clin Oncol 2010: 28 (3): 387-391.
22. Donenberg T, Lunn J, Curling D et al. A high prevalence of BRCA1 mutations among breast cancer patients from the Bahamas. Breast Cancer Res Treat 2011: 125 (2): 591-596.
23. Metcalfe KA, Birenbaum-Carmeli D, Lubinski J et al. International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers. Int J Cancer 2008: 122 (9): 2017-2022.
24. Narod SA, Metcalfe K, Lynch HT et al. Should all BRCA1 mutation carriers with stage I breast cancer receive chemotherapy? Breast Cancer Res Treat 2013: 138 (1): 273-279.