Abstract
Hereditary breast cancer may result from germline mutations in one of several genes. Different genes confer different levels of risk for the development of breast cancer, and may also confer a significantly increased risk of cancer in other organ sites. For example, mutations and the BRCA1 and BRCA2 genes, the most common cause of hereditary breast cancer, also markedly increase the risk of ovarian cancer.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Ford D, Easton DF, Stratton M et al (1998) Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. Am J Hum Genet 62:676–689
Antoniou A, Pharoah PD, Narod S 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 72:1117–1130
King MC, Marks JH, Mandell JB (2003) Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 302:643–646
Chen S, Iverson ES, Friebel T et al (2006) Characterization of BRCA1 and BRCA2 mutations in a large United States sample. J Clin Oncol 24:863–871
Hartmann LC, Sellers TA, Schaid DJ et al (2001) Efficacy of bilateral prophylactic mastectomy in women with a family history of breast cancer. J Natl Canc Inst 93:1633–1637
Rebbeck TR, Friebel T, Lynch HT et al (2004) Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol 22:1055–1062
Meijers-Heijboer H, van Geel B, van Putten WL et al (2001) Breast cancer after prophylactic mastectomy in women with a BRCA 1 or 2 mutation. N Engl J Med 354:159–164
Rebbeck TR et al (2002) The Prevention and Observation of Surgical End Points Study Group: prophylactic oophorectomy in carriers of BRCA 1 or BRCA2 mutations. N Eng J Med 346:1616–1622
Ray J, Loescher L, Brewer M (2005) Risk-reduction surgery decisions in high-risk women seen for genetic counseling. J Genet Couns 14:473–484
Uyei A, Peterson SK, Erlichman J et al (2006) Association between clinical characteristics and risk-reduction interventions in women who underwent BRCA1 and BRCA2 testing. Cancer 107:2745–2751
Beattie MS, Crawford B, Lin F et al (2009) Uptake, time course and predictors of risk-reducing surgeries in BRCA carriers. Genet Test Mol Biosmarkers 13:51–56
Litton JK, Westin SN, Ready K et al (2009) Perception of screening and risk reduction surgeries in patients tested for a BRCA deleterious mutation. Cancer 115:1598–1604
Frost MH, Schaid DJ, Sellers TA et al (2000) Long-term satisfaction and psychological and social function following bilateral prophylactic mastectomy. JAMA 284:319–324
Geiger AM, Nekhlyudov L, Herrinton LJ et al (2006) Quality of life after bilateral prophylactic mastectomy. Ann Surg Oncol 14:686–694
Van Oostrom I, Meijers-Heijboer H, Lodder LN et al (2003) Long-term psychologic impact of carrying a BRCA1/2 mutation and prophylactic surgery: a 5-year follow-up study. J Clin Oncol 21:3867–3874
Li FP, Fraumeni JF Jr, Mulvihill JJ et al (1988) A cancer family syndrome in twenty-four kindreds. Cancer Res 48:5358–5362
Sidransky D, Tokino T, Helzlsouer K et al (1992) Inherited p53 gene mutations in breast cancer. Cancer Res 52:2984–2986
Birch JM, Alston RD, McNally RJ et al (2001) Relative frequency and morphology of cancers in carriers of germline TP53 mutations. Oncogene 20:4621–4628
Chompret A, Brugieres L, Ronsin M et al (2000) P53 germline mutations in childhood cancers and cancer risk for carrier individuals. Br J Cancer 82:1932–1937
Le Bihan C, Bonaiti-Pellie C (1994) A method for estimating cancer risk in p53 mutation carriers. Cancer Detect Prev 18:171–178
Eng C (2003) PTEN: one gene, many syndromes. Hum Mutat 22:183–198
Starink TM, van der Veen JP, Arwert F et al (1986) The Cowden syndrome: a clinical and genetic study in 21 patients. Clin Genet 29:222–233
Pharoah P, Guilford P, Caldas C et al (2001) Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families. Gastroenterology 121:1348–1353
Norton JA, Ham CM, Van Dam J et al (2007) CDH1 truncating mutations in the E-cadherin gene an indication for total gastrectomy to treat hereditary diffuse gastric cancer. Ann Surg 245:873–879
Beer GM, Varga Z, Budi S, Seifert B, Meyer VE (2002) Incidence of the superficial fascia and its relevance in skin-sparing mastectomy. Cancer 94:1619–1625
Ho CM, Mak CK, Lau Y, Cheung WY, Chan MC, Hung WK (2003) Skin involvement in invasive breast carcinoma: safety of skin-sparing mastectomy. Ann Surg Oncol 10:102–107
Carlson GW, Styblo TM, Lyles RH, Jones G, Murray DR, Staley CA et al (2003) The use of skin sparing mastectomy in the treatment of breast cancer: The Emory experience. Surg Oncol 12:265–269
Gerber B, Krause A, Reimer T, Muller H, Kuchenmeister I, Makovitzky J et al (2003) Skin-sparing mastectomy with conservation of the nipple-areola complex and autologous reconstruction is an oncologically safe procedure. Ann Surg 238:120–127
Greenway RM, Schlossberg L, Dooley WC (2005) Fifteen-year series of skin-sparing mastectomy for stage 0 to 2 breast cancer. Am J Surg 190:918–922
Kroll SS, Khoo A, Singletary SE, Ames FC, Wang BG, Reece GP et al (1999) Local recurrence risk after skin-sparing and conventional mastectomy: a 6-year follow-up. Plast Reconstr Surg 104:421–425
Spiegel AJ, Butler CE (2003) Recurrence following treatment of ductal carcinoma in situ with skin-sparing mastectomy and immediate breast reconstruction. Plast Reconstr Surg 111:706–711
Drucker-Zertuche M, Robles-Vidal C (2007) A 7-year experience with immediate breast reconstruction after skin sparing mastectomy for cancer. Eur J Surg Oncol 33:140–146
Carlson GW, Page A, Johnson E et al (2007) Local recurrence of ductal carcinoma in situ after skin-sparing mastectomy. J Am Coll Surg 204:1074–1080
Salhab M, Al Sarakbi W, Joseph A et al (2006) Skin-sparing mastectomy and immediate breast reconstruction: patient satisfaction and clinical outcomes. In J Clin Oncol 11:51–54
Chung A, Sacchini V (2008) Nipple-sparing mastectomy: where are we now? Surg Oncol 17:261–266
Rusby JE, Kirstein LJ, Brachtel EF, Taghian AG, Michaelson JS, Koerner FC, Smith BL et al (2008) Nipple sparing mastectomy: lessons from ex-vivo procedures. Breast J 14:464–470
Crowe JP Jr, Kim JA, Yetman R, Banbury J, Patrick RJ, Baynes D (2004) Nipple-sparing mastectomy: technique and results of 54 procedures. Arch Surg 139:148–150
Crowe JP, Patrick RJ, Yetman RJ, Djohan R (2008) Nipple-sparing mastectomy update: one hundred forty-nine procedures and clinical outcomes. Arch Surg 143:1106–1110
Stolier AJ, Sullivan SK, Dellacroce FJ (2008) Technical considerations in nipple-sparing mastectomy: 82 consecutive cases without necrosis. Ann Surg Oncol 15:1341–1347
Caruso F, Ferrara M, Castiglione G, Trombetta G, De Meo L, Catanuto G et al (2006) Nipple sparing subcutaneous mastectomy: sixty-six months follow-up. Eur J Surg Oncol 32:937–940
Petit JY, Veronesi U, Orecchia R, Luini A, Rey P, Intra M et al (2006) Nipple-sparing mastectomy in association with intra operative radiotherapy (ELIOT): a new type of mastectomy for breast cancer treatment. Breast Cancer Res Treat 96:47–51
Sacchini V, Pinotti JA, Barros AS et al (2006) Nipple-sparing mastectomy for breast cancer and risk reduction: oncologic or technical problem? J Am Coll Surg 203:704–714
Brachtel EF, Rusby JE, Michaelson JS, Smith BL, Koerner FC (2009) Occult nipple involvement in breast cancer: ClinicoÂpathologic findings in 316 consecutive mastectomy specimens. J Clin Oncol 27:4948–4954
Wijayanayagam A, Kumar AS, Foster RD, Esserman LJ (2008) Optimizing the total skin-sparing mastectomy. Arch Surg 143:38–45
Bresser PJ, Seynaeve C, Van Gool AR et al (2006) Satisfaction with prophylactic surgery and breast reconstruction in genetically predisposed women. Plast Reconstr Surg 118:1496–1497
Black DS, Specht MC, Lee JM et al (2007) Detecting occult malignancy in prophylactic mastectomy: preoperative MRI vs. sentinel lymph node biopsy. Ann Surg Oncol 14:2477–2484
McLaughlin SA, Stempal M, Morris EA, Liberman L, King TA (2007) Can magnetic resonance imaging be used to select patients for sentinel lymph node biopsy in prophylactic mastectomy? Cancer 112:1214–1221
Pierce LJ, Strawderman M, Narod SA et al (2000) Effect of radiotherapy after breast-conserving treatment in women with breast cancer and germline BRCA1/2 mutations. J Clin Oncol 19:3360–3369
Pierce LJ, Levin AM, Rebbeck TR et al (2006) Ten-year multi-institutional results of breast conserving surgery and radiotherapy in BRCA ½-associated Stage I or II breast cancer. J Clin Oncol 24:2437–2443
De Bock GH, Tollenaar RA, Papelard H et al (2001) Clinical and pathological features of BRCA 1 associated carcinomas in a hospital-based sample of Dutch breast cancer patients. Br J Cancer 85:347–350
Lakhani SR, van De Vijver MJ, Jacquemier J et al (2002) The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER2, and p53 in patients with mutations in BRCA 1 and BRCA2. J Clin Oncol 20:2310–2318
Veronesi A, de Giacomi C, Magri MD et al (2005) Familial breast cancer: characteristics and outcome of BRCA1-2 positive and negative cases. BMC Cancer 5:70–75
Robson M, Svahn T, McCormick B et al (2005) Appropriateness of breast-conserving treatment of breast carcinoma in women with germline mutations in BRCA1 or BRCA2: a clinic-based series. Cancer 103:44–51
Metcalfe K, Lynch HT, Ghadirian P et al (2004) Contralateral breast cancer in BRCA1 and BRCA2 mutation carriers. J Clin Oncol 22:2328–2335
Disa JJ, McCarthy CM, Mehrara BJ, Pusic AL, Cordeiro PG (2008) Immediate latissimus dorsi/prosthetic breast reconstruction following salvage mastectomy after failed lumpectomy/irradiation. Plastic Reconstr Surg 121:159–164
ACS (2009) Cancer facts and figures 2009, American Cancer Society, Atlanta, GA
Garber JE, Offit K (2005) Hereditary cancer predisposition syndromes. J Clin Oncol 23:276–292
Struewing JP, Hartge P, Wacholder S et al (1997) The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med 336:1401–1408
Frank TS (2001) Hereditary cancer syndromes. Arch Pathol Lab Med 125:85–90
Chen S, Parmigiani G (2007) Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol 25:1329–1333
Ford D, Easton DF, Bishop DT et al (1994) Risk of cancer in BRCA1 mutation carriers. Lancet 343:692–695
Levine DA, Argenta PA, Yee CJ et al (2005) Fallopian tube and primary peritoneal carcinomas associated with BRCA mutations. J Clin Oncol 21:4222–4227
Struewing JP, Watson P, Eaton DF et al (1995) Prophylactic oophorectomy in inherited breast/ovarian cancer families. J Natl Cancer Inst Monogr 17:33–35
Weber BL, Punzalan C, Eisen A et al (2000) Ovarian cancer risk reduction after bilateral prophylactic oophorectomy in BRCA1 and BRCA2 mitation carriers. Am Soc Hum Genet 67(Suppl 2):59 (abstract 251)
Piver MS, Jishi MF, Tsukada Y, Nava G (1993) Primary peritoneal carcinoma after prophylactic oophorectomy in women with a family history of ovarian cancer. A report of the Gilda Radner Familial Ovarian Cancer Registry. Cancer 71:2751–2755
Kauff ND, Satagopan JM, Robson ME et al (2002) Risk-reducing salpingo-oophorectomy in women with a BRCA 1 or BRCA 2 mutation. N Engl J Med 346:1609–1615
Schrag D, Kuntz KM, Garber JE, Weeks JC (1997) Decision analysis-effects of prophylactic mastectomy and oophorectomy on life expectancy among women with BRCA1 or BRCA2 mutations. N Engl J Med 336:1465–1471
Kauff ND, Domchek SM, Friebel TM et al (2008) Risk-reducing salpingo-oophrectomy for the prevention of BRCA 1 and BRCA 2 associated breast and gynecologic cancer: A multicenter, prospective study. J Clin Oncol 26:1331–1337
Rosen B, Kwon K, Fung K, Fung M et al (2004) Systematic review of management options of women with a hereditary predisposition to ovarian cancer. Gynecol Oncol 93:280–286
Finch A, Beiner M, Lubinski J et al (2006) Salpingo-oophrectomy in women with a BRCA 1 or BRCA2 mutation. JAMA 296:185–192
Domchek SM, Friebel TM, Neuhausen SL et al (2006) Mortality after bilateral salpingo-oophorectomy for the prevention of BRCA1 and BRCA2 mutation carriers: a prospective cohort study. Lancet Oncol 7:223–229
Brose MS, Rebbeck TR, Calzone KA et al (2002) Cancer risk estimates for BRCA1 mutation carriers indentified in a risk evaluation program. J Natl Cancer Inst 94:1365–1372
Finch A, Shaw P, Rosen B et al (2006) Clinical and pathologic findings of prophylactic salpingo-oophorectomies in 159 BRCA1 and BRCA2 mutation carriers. Gynecol Oncol 100:58–64
Zhou J, Iwasa Y, Konishi I et al (1995) Papillary serous carcinoma of the peritoneum in women. A clinicopathologic and immunohistochemical study. Cancer 76:429–436
Eisen A, Rebbeck TR, Wood WC, Webber BL (2000) Prophylactic surgery in women with a hereditary predisposition to breast and ovarian cancer. J Clin Oncol 18:1980–1995
Dowdy SC, Stefanek M, Hartmann LC (2004) Surgical risk reduction: prophylactic salpingo-oophorectomy and prophylactic mastectomy. Am J Obstet Gynecol 191:1113–1123
Powell CB, Kenley E, Chen LM et al (2005) Risk-reducing salpingo-oophorectomy in BRCA mutation carriers: role of serial sectioning in the detection of occult malignancy. J Clin Oncol 23:127–132
Powell CB (2006) Occult ovarian cancer at the time of risk-reducing salpingo-oophorectomy. Gynecol Oncol 100:1
Guillem JG, Wood WC, Moley JF et al (2006) ASCO/SSO review of current role of risk-reducing surgery in common hereditary cancer syndromes. J Clin Oncol 24:4642–4660
Lu KH, Garber JE, Cramer DW et al (2000) Occult ovarian tumors in women with BRCA1 or BRCA2 mutations undergoing prophylactic oophorectomy. J Clin Oncol 18:2728–2732
Kauff ND, Barakat RR (2004) Surgical risk-reduction in carriers of BRCA mutations: where do we go from here? Gynecol Oncol 93:277–279
(2005) Society of Gynecologic Oncologists Clinical Practice Committee Statement on Prophylactic Salpingo-oophorectomy. Gynecol Oncol 98:179–181
Watson P, Lynch HT (1993) Extracolonic cancer in hereditary nonpolyposis colorectal cancer. Cancer 71:677–685
Lavie O, Hornreich G, Ben Arie A et al (2000) BRCA1 germline mutations in women with uterine serous papillary carcinoma. Obstet Gynecol 96:28–32
Hornreich G, Beller U, Lavie O et al (1999) Is uterine serous papillary carcinoma a BRACA1-related disease? Case report and review of the literature. Gynecol Oncol 75:300–304
Lavie O, Hornreich G, Ben Arie A et al (2004) BRCA germline mutations in Jewish women with uterine serous papillary carcinoma. Gynecol Oncol 92:521–524
Goshen R, Chu W, Elit L et al (2000) Is uterine papillary serous adenocarcinoma a manifestation of the hereditary breast-ovarian cancer syndrome? Gynecol Oncol 79:477–481
Rubinstein WS (2005) Surgical management of BRCA1 and BRCA2 carriers: bitter choices slightly sweetened. J Clin Oncol 23:7772–7774
Villella JA, Parmar M, Donohue K et al (2006) Role of prophylactic hysterectomy in patients at high risk for hereditary cancers. Gynecol Oncol 102:475–479
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2010 Springer Science+Business Media, LLC
About this chapter
Cite this chapter
Specht, M.C., del Carmen, M.G., Smith, B.L. (2010). Surgical Management of Hereditary Breast and Ovarian Cancer. In: Chung, D., Haber, D. (eds) Principles of Clinical Cancer Genetics. Springer, Boston, MA. https://doi.org/10.1007/978-0-387-93846-2_4
Download citation
DOI: https://doi.org/10.1007/978-0-387-93846-2_4
Published:
Publisher Name: Springer, Boston, MA
Print ISBN: 978-0-387-93844-8
Online ISBN: 978-0-387-93846-2
eBook Packages: MedicineMedicine (R0)