Oncologic Safety of Prophylactic Nipple-Sparing Mastectomy in a Population With <i>BRCA</i> Mutations

Jakub, James W.; Peled, Anne Warren; Gray, Richard; Greenup, Rachel A.; Kiluk, John V.; Sacchini, Virgilio; McLaughlin, Sarah A.; Tchou, Julia; Vierkant, Robert A.; Degnim, Amy C.; Willey, Shawna C.

doi:10.1001/jamasurg.2017.3422

Cited by 152 publications

(111 citation statements)

References 33 publications

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“…However, in selected cases (figure 4), if the surgical strategy is discussed and is in accordance with patient’s wishes (also considering the uncontrolled fear, which is frequently observed in these situations), a prophylactic bilateral nipple-sparing mastectomy (PNSM) could be performed as defined for BRCA mutation carriers 89…”

Section: Prophylactic Surgerymentioning

confidence: 99%

Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect

et al. 2018

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Recent studies have reported germline mutations in cases of lobular breast cancer (LBC) not associated with the classical hereditary diffuse gastric cancer syndrome. A multidisciplinary workgroup discussed genetic susceptibility, pathophysiology and clinical management of hereditary LBC (HLBC). The team has established the clinical criteria for screening and results' interpretation, and created consensus guidelines regarding genetic counselling, breast surveillance and imaging techniques, clinicopathological findings, psychological and decisional support, as well as prophylactic surgery and plastic reconstruction. Based on a review of current evidence for the identification of HLBC cases/families, genetic testing is recommended in patients fulfilling the following criteria: (A) bilateral LBC with or without family history of LBC, with age at onset<50 years, and (B) unilateral LBC with family history of LBC, with age at onset <45 years. In asymptomatic mutant carriers, breast surveillance with clinical examination, yearly mammography, contrast-enhanced breast MRI and breast ultrasonography (US) with 6-month interval between the US and the MRI should be implemented as a first approach. In selected cases with personal history, family history of LBC and mutations, prophylactic mastectomy could be discussed with an integrative group of clinical experts. Psychodecisional support also plays a pivotal role in the management of individuals with or without germline alterations. Ultimately, the definition of a specific protocol for genetic screening and ongoing coordinated management of patients with HLBC is crucial for the effective surveillance and early detection of LBC.

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Section: Prophylactic Surgerymentioning

confidence: 99%

Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect

et al. 2018

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“…2,29,30 Oncologic safety of NSM has also been demonstrated in the population with BRCA mutations as well. 31 Our study demonstrates that in addition to widely accepted level of oncologic safety, NSM provides patients with higher levels of sexual well-being while maintaining comparable levels of satisfaction with the breasts, as well as physical and psychosocial well-being.…”

Section: Discussionmentioning

confidence: 54%

“…Oncologic safety has been demonstrated in those undergoing NSM as studies have shown local recurrence rate ranging from 2.3‐8.2%, comparable to the rates in conventional mastectomy patients . Oncologic safety of NSM has also been demonstrated in the population with BRCA mutations as well …”

Section: Discussionmentioning

confidence: 94%

Quality of life and sexual well‐being after nipple sparing mastectomy: A matched comparison of patients using the breast Q

Yoon-Flannery¹,

DeStefano

Cruz

et al. 2018

Journal of Surgical Oncology

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“…Nipple‐sparing (NSM) and skin‐sparing (SSM) mastectomies require a less extensive reconstruction and often a better cosmetic result. Since the PROSE study in 2004, a piece of mounting evidence demonstrates that NSM, as well as SSM, may be effective forms of surgical prophylaxis in BRCA carriers . In a recent retrospective study, patients with BRCA who underwent prophylactic NSM at nine institutions from 1968‐2013 were reviewed .…”

Section: Hereditary Breast and Ovarian Cancer Syndromementioning

confidence: 99%

Screening and surgical prophylaxis for hereditary cancer syndromes with high risk of endometrial and ovarian cancer

Bercow

Eisenhauer

2019

Journal of Surgical Oncology

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In the era of advanced cancer genomics, our recognition of hereditary cancer mutations continues to increase. Two of these conditions, which carry an increased risk of female cancers including endometrial, ovarian, breast, are hereditary breast and ovarian cancer syndrome and Lynch syndrome. Risk-reducing surgery, such as mastectomy, salpingo-oophorectomy, and hysterectomy may decrease cancer risk for mutation carriers. Background, indications, techniques, and consequences of these surgical procedures are reviewed.BRCA, endometrial cancer, hereditary cancer, Lynch syndrome, ovarian cancer | INTRODUCTIONIn 2019, over 109 000 women in the United States will be diagnosed with gynecologic malignancy and over 33 000 will die from one. 1 Although only a small percentage of these women will develop endometrial or ovarian cancer associated with an identifiable germline mutation, the potential for personalized prevention and individualized treatment is great in this select cohort. This article will review the hereditary conditions associated with increased risk of ovarian and/or endometrial cancer and how patients should be screened for these mutations. It will also address the surgical means by which these women can reduce their risk of ovarian and endometrial cancer. | HEREDITARY BREAST AND OVARIAN CANCER SYNDROMEIn 2018, approximately 22 000 women received a new diagnosis of ovarian cancer in the United States, and there were 14 000 ovarian cancer deaths. 2 Inherited germline mutations that increase the risk for ovarian cancer are present in approximately 7%-25% of these women. 3 Hereditary breast and ovarian cancer syndrome (HBOC) is the most common genetic syndrome linked to ovarian cancer and is associated with mutations in the BRCA genes. BRCA1 and BRCA2 are tumor suppressor genes involved in the repair of double-stranded DNA breaks. Certain populations are at significantly higher risk for BRCA mutations than the general population including, Ashkenazi Jewish, French Canadian, and Icelandic populations. This is because of the founder effect, which causes a decrease in genetic diversity in a population that is geographically or reproductively isolated. For example, in the general United States non-Jewish population, the risk of inheriting a BRCA mutation is 1 in 400 compared with the Ashkenazi Jewish population, who carry an increased risk of 1 in 40. 4 The inheritance pattern of the BRCA mutations is autosomal dominant. However, tumor suppressor genes are known to be recessive, requiring both copies of the gene to be affected. In the "two-hit" hypothesis, a loss of heterozygosity is required. Therefore, a germline BRCA mutation is inherited in one copy of the gene, the second copy then undergoes a somatic mutationi.e., the second hitand the carrier is phenotypically affected. 5The most recently estimated cumulative cancer risk by age 80 for BRCA1 and BRCA2 carriers is 72% and 69%, respectively. 2 By comparison, the lifetime risk of ovarian and breast cancer in the general population is 1.3% and 12.4%, respective...

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Oncologic Safety of Prophylactic Nipple-Sparing Mastectomy in a Population With BRCA Mutations

Abstract: Nipple-sparing mastectomies are highly preventive against breast cancer in a BRCA population. Although the follow-up remains relatively short, NSM should be offered as a breast cancer risk-reducing strategy to appropriate patients with BRCA mutations.

Cited by 152 publications

References 33 publications

Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect

Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect

Quality of life and sexual well‐being after nipple sparing mastectomy: A matched comparison of patients using the breast Q

Screening and surgical prophylaxis for hereditary cancer syndromes with high risk of endometrial and ovarian cancer

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