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7 Genetic Predispositions andProphylactic Mastectomy inBreast Cancer Patients
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7 Genetic Predispositions andProphylactic Mastectomy inBreast Cancer Patients
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total skin-sparing mastectomy and immediate reconstruction in 657 breasts. Ann Surg Oncol. 2012;19(11):3402–9.
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Prophylactic Mastectomy forBenign Pathologies
MuratKemalAtahan andBeyzaÖzçınar
8
8.1 Introduction
Two topics should be mentioned under the topic of prophylactic mastectomy for benign patholo­gies. One is bilateral prophylactic mastectomy (BPM) for high-risk patients with no breast cancer history, the second is contralateral pro­phylactic mastectomy for patients with single­side breast cancer. We will discuss each topic separately.
Breast cancer is the most common cancer and cause of cancer-related deaths in women all over the world. About one in four cancers in women are breast cancer. GLOBOCAN 2018 data show that around 2.1million new breast cancer cases are diagnosed in 2018 and about 15% of cancer­related deaths of women are due to breast cancer [1]. It is known that when breast cancer is diag­nosed in the early stages, it provides a survival advantage for women and the most important outcome in cancer is survival. Accordingly, the following question arises: would we also gain a survival advantage if we identify high-risk women and perform risk-reducing surgery for breast cancer?
M. K. Atahan (*) Department of General Surgery, İzmir Katip Çelebi University Faculty of Medicine, İzmir, Turkey e-mail: muratkemal.atahan@ikcu.edu.tr
B. Özçınar Department of General Surgery, İstanbul University Faculty of Medicine, İstanbul, Turkey e-mail: bozcinar@istanbul.edu.tr
Breast cancer is a multifactorial disease and about 15–20% of all cases have a family history, but only 5–10% have a known genetic mutation [2–5]. Family history is a well-known risk fac­tor for breast cancer. The risk of breast cancer in women with affected rst-degree (parents or siblings) relatives increases about two times, and the occurrence of both increases approximately four times [2–4, 6]. However, it is known that the risk increases as the family member becomes closer and the age of diagnosis decreases [2, 4,
5]. Although the most common genetic mutations
are seen in BRCA 1 and 2 genes, only 9–29% of patients who underwent genetic counseling for familial breast cancer have these gene muta­tions. Approximately 4–11% had other genetic mutations and no known genetic mutation was detected in approximately 64–86.5% of these patients [7].
According to the National Comprehensive Cancer Network (NCCN) 2020 Breast Cancer Risk Reduction Guideline, women with a known genetic predisposition or pedigree sug­gestive of genetic predisposition or lifetime risk are ≥ 20% in models, and if the life expectancy is ≥10years, they should be counseled for risk­reduction options [8]. Also, women who do not meet any familial risk criteria or have negative genetic tests but have a history of thoracic radia­tion therapy before 30years, history of lobular carcinoma in situ (LCIS), or history of atypi­cal ductal or lobular hyperplasia (ADH, ALH) or 5-year breast cancer risk of ≥1.7% and life
© The Author(s), under exclusive license to Springer Nature Switzerland AG 2021 O. N. Dilek et al. (eds.), Prophylactic Surgery, https://doi.org/10.1007/978-3-030-66853-2_8
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M. K. Atahan and B. Özçınar
expectancy ≥10years should be counseled for risk-reduction options [8].
The topic of “Genetic Predispositions and Prophylactic Mastectomy” has been discussed in the previous section. In this section, we will discuss: prophylactic mastectomy for high­risk women with no known genetic mutations and contralateral prophylactic mastectomy for patients with unilateral breast cancer.
8.2 Prophylactic Mastectomy
forHigh-Risk Women withNo Known Genetic Mutation
8.2.1 Assessment ofBreast
CancerRisk
When conducting breast cancer risk analysis, detailed medical, surgical, and family history should be obtained. Especially, whether there was a history of radiation therapy to the thoracic region before age 30years, benign previous biopsy (especially LCIS, ADH, or ALH) and the number of biopsies, reproductive history (age at menarche, age at menopause, age at rst pregnancy, and age at rst living birth), use of oral contraception and hormone replacement therapy, number of rela­tives with breast cancer history on each side, blood degree, age at diagnosis, bilaterality, and ethnicity of women should be considered. Statistical mod­els are used to determine the risk of breast cancer. The Claus model can be used especially for risk analysis of Caucasian women with a family history of one or more relatives with breast cancer. The Claus model is primarily focused on family his­tory. The Gail model can be used for women over 35 years of age, but this model excludes genetic predisposition and second- or third-degree family history, it includes benign previous biopsy. The Gail and Tyrer- Cuzick (IBIS) models use demo­graphic information of patients, i.e., age, personal history of breast disease, reproductive history, and family history. The most commonly used model is the Gail model. However, the Gail model under­estimates the risk in non-Caucasian women, women with atypia, and mantle radiation history.
The Tyrer-Cuzick model overestimates the risk in LCIS, ADH, and ALH, but can be used in women aged below 35 years. In addition, the BRCAPro and BOADICEA models can be used to calculate the mutational probability [9, 10].
Genetic counseling and genetic testing are recommended according to the National Institute for Health and Care Excellence (NICE) guide­line, last updated in November 2019, if any of the below are present:
1. First-degree relative with breast cancer aged
under 40years.
2. Two rst-degree relatives or one rst- and one
second-degree relative with breast cancer at any age.
3. First-degree male relative with breast cancer
at any age.
4. First-degree relative with bilateral breast can-
cer, rst diagnosed before age 50years.
5. First-degree relative with both breast and
ovarian cancer.
6. Any rst- and/or second-degree relatives one
with breast cancer, one with ovarian cancer [11].
In addition to the above NICE criteria, the NCCN Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Guideline 2020 recommended that women with a familial history of rst- and/or second-degree relative with pan­creatic cancer, metastatic or intraductal prostate cancer at any age or more than 5% BRCA 1 and 2 mutation risk in the Tyrer-Cuzick, BRCAPro, and Penn II models should undergo genetic coun­seling [12]. Prophylactic mastectomy for patients with pathologic mutations was discussed in the previous section. The group of patients without a genetic predisposition but high risk for breast cancer will be discussed in this section.
8.3 Prophylactic Mastectomy
forWomen withaHistory ofLCIS or ADH/ALH
Lobular carcinoma in situ (LCIS), ALH, and ADH are benign breast lesions with known increased breast cancer risk. LCIS and ALH will
8 Prophylactic Mastectomy forBenign Pathologies
79
be referred to as lobular neoplasia together in this section. The rate of lobular neoplasia to progress into ductal carcinoma in situ (DCIS) or invasive cancer is 8–10 times higher for LCIS and 4–5 times higher for ALH than the breast cancer risk in the general population [13, 14]. Hartman etal. (2014) in their cohort study of 698 women with ADH and/or ALH, after a mean follow-up of 12.5years, found that 29% of all women had developed breast cancer at 25years after biopsy diagnosis. Two in every three patients with breast cancer were diagnosed on the ipsilateral side with atypical hyperplasia, and one in three had can­cer on the contralateral side, 19% of all cancers were DCIS, and the remainder was invasive can­cer. Moreover, the risk of progress into invasive cancer was similar both in ADH and ALH in this cohort [15]. These results support that atypical hyperplasia, either ADH or ALH, is a risk indica­tor of breast cancer that increases the risk of both breasts. Coopey etal. (2012) revealed that after a mean follow-up of 68 months, the results of 2938 women with atypical breast lesions showed that the 10-year breast cancer risk was 17.3% in ADH, 20.7% in ALH, and 23.7% in LCIS [16]. In a review, Thomas etal. (2018) concluded that the rate of breast cancer development in 1-year duration was 1–2% for ADH and ALH, and 2% for LCIS [17, 18].
The upgrade rate of atypical lesions to cancer after excision is also important. A large retrospec­tive study by Chang Sen etal. (2016) showed that 447 lesions with ALH or LCIS in biopsy resulted in 22 cancers after excisional biopsy, and the upgrade rates of LCIS and ALH were 8.4% and
2.4%, respectively. The authors recommended close follow-up with 6-month intervals for ALH and surgical excision for LCIS [19]. In many studies, the upgrade rate of ADH into cancer was between 10 and 30%, and most authors recom­mended surgical excision for ADH [20–22]. Pena etal. (2017) found that the upgrade rate of ADH was 16%. However, when they divided the cases according to the number of atypical foci, the upgrade rate of the low-risk group was found as
4.9%. They concluded that, in the low- risk group of ADH, active surveillance was enough, but in the high-risk group, surgical excision was rec-
ommended [23].On the other hand, some studies have suggested that ADH had a lower upgrade rate than previous studies and there was no need for excision, especially in the low-risk group [22,
24]. Menen et al. (2017) followed 175 patients
with ADH with low risk for 3years. They per­formed surgical excision on 50 patients and close follow-up with 125 patients, and the rate of can­cer development in the surgical excision group was 12%, and 5.6% in the follow- up group. Index site failure was detected only in one patient, but a striking point was that all contralateral breast cancers occurred in the surgical excision group. They concluded that observation was appropri­ate in selected cases of ADH with low risk [22]. In the review of Racz etal. (2017), the authors concluded that excision was recommended for lobular neoplasia, especially for LCIS, and surgi­cal excision was the standard treatment for ADH; however, in some selected low-risk cases of ADH, observation could be applied safely [25].
There are three strategies for the management of high-risk women, and there are no randomized controlled trials for the management strategies of LCIS, ADH, and ALH. Wong etal. (2017) used the Markow simulation model and created three cohorts in the SEER (National Cancer Institute’s Surveillance, epidemiology, and End Results) database to determine life expectancy and survival differences in three cohorts (active surveillance, risk-reducing chemoprevention, and bilateral pro­phylactic mastectomy) in patients with LCIS.The results showed that adding chemoprevention or risk-reducing surgery increased life expectancy. Chemoprevention added an average of 1.6months and risk-reducing surgery added an average of 3 months to survival. However, in the quality­adjusted life expectancy (QALE), a decrease in survival was detected. Bilateral prophylac­tic mastectomy (BPM) reduced QALE by about
1.9–3.7 years. BPM reduced the risk of breast cancer by 99%, but only provided a maximum of 4.4months of gain to women diagnosed at the age of 40 years. As a result, the 10-year overall survival (OS) with active surveillance was 97.4% for women diagnosed at the age of 40years, and there were 0.3–0.4% increases with chemopre­vention and 0.5–0.7% increases with BPM [26].
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M. K. Atahan and B. Özçınar
In light of these data, chemoprevention seems to be the most appropriate approach in LCIS. The contribution of BPM to survival seems to be neg­ligible considering its negative effect on quality of life. A long-term follow-up study of King etal. (2015) of 56 women with LCIS who underwent BPM revealed that no patients had cancer in the follow- up; 1032 women remained under surveil­lance with or without chemoprevention, and after a mean follow-up of 83months, 14% of women had breast cancer. Women who preferred BPM were younger with dense breasts and strong fam­ily history. Chemoprevention was signicantly associated with breast cancer risk reduction [18].
Consequently, in the presence of lobular neo­plasia or ADH, to decide whether BPM indi­cated, the biopsy results alone are not sufcient. It is important to determine the lifelong risk of breast cancer by using the most appropriate risk­determining model according to other risk modi­ers such as family history, prior radiation therapy history, and reproductive history. The Gail, Tyrer­Cuzick, and Claus models can be used. Claus model is useful when there is a strong family history, and the Gail model is useful for women aged ≥35years who have other risk factors, e.g., age at menarche, age at rst live birth, and the number of breast biopsies. The Gail model may underestimate the risk of hyperplasia. The Tyrer­Cuzick model can be used before age 35years, but it overestimates the risk of LCIS, ADH, and ALH.By using these methods if the lifelong risk is ≥20%, BPM is considering as an alternative treatment option. However, the effect of BPM on survival, the advantages and disadvantages of this method, and possible complications should be explained to women in detail and all three treat­ment options should be presented for choice.
8.4 Prophylactic Mastectomy
forWomen withaPrevious History ofThoracic Radiation Therapy
Many studies have shown that women receiving radiation therapy (RT) to the chest region due to Hodgkin lymphoma (HL) before age ≤30years
have an increased risk of developing breast can­cer. The risk of developing breast cancer after childhood radiation therapy to the chest is about the same as that for women who are BRCA­positive [27–29]. Travis etal. (2005) observed 3817 women receiving radiation therapy to the chest due to HL and showed that if a woman at age 25years received radiation therapy, the risk of developing breast cancer by 45years was
11.1% and was 20% by 55years [27].The Late Effects Study Group reported a cohort of 1380 children with HL; after 17 months follow-up, they found an 18.5-fold increased risk in sec­ond malignancies, with breast cancer being the most common malignancy with a risk of 56.7 times that of the general population [28]. The International Late Effects of Childhood Cancer Guideline Harmonization Group recommends starting a breast cancer surveillance at age 25 or 8 years after RT (whichever occurs last). Especially for those who receive ≥20 Gy RT to the chest, annual breast cancer surveillance is recommended at least up to age 50 years [29]. The NCCN Breast Cancer Risk Reduction Guideline version 2020 recommended that risk­reduction options should be discussed with women who have a prior history of chest RT before age 30 years with a life expectancy of ≥10years [8].
8.5 Contralateral Prophylactic Mastectomy
In recent years, the frequency of recommending bilateral mastectomy to women with unilateral cancer has increased. However, bilateral mastec­tomy has no advantage in many women. There are certain consensus statements about which women are eligible for contralateral prophylactic mastectomy (CPM). Consequently, the advan­tages and disadvantages of CPM should be eval­uated on a patient-by-patient basis, and also the patient’s preference should be considered in the decision process. The American Society of Breast Surgeons (ASBrS) consensus group agreed that CPM was not recommended in women with aver­age risk with unilateral breast cancer [30].
8 Prophylactic Mastectomy forBenign Pathologies
81
Wong et al. (2017) compared patients who underwent breast-conserving surgery (BCS) and a CPM group; after a median follow-up of
8.25years, they found that the OS and breast can­cer-specic survival (BCSS) in the BCS group was better than in the CPM group (HR: 1.08) [31]. BCS should be recommended for every suitable woman.
If a woman needs a mastectomy due to the index tumor then consider the patient’s overall survival rate according to the age, prognostic features of index tumor, patient’s comorbidities, and risk of contralateral breast cancer (CBC) occurrence rate and systemic recurrence rate. It should be noted that the CPM does not alter the prognosis of the original tumor, so CPM should be considered if it provides a survival advantage.
In their systematic review and meta-analysis, Molina-Montes et al. (2014) revealed that the 5-year cumulative risk of CBC in BRCA 1 and 2 carriers was 15% and 9%, and in noncarri­ers it was 3% [32]. The risk of CBC in women with average risk was 0.1–0.6% per year [30]. In the WECARE study, the relative risk of CBC in patients with a rst-degree relative with a history of breast cancer diagnosed before age 45years was 2.5 and the relative risk was 3.6in patients with a family history of rst-degree relative with bilateral breast cancer. In women diagnosed with unilateral breast cancer before age 55years with a rst-degree relative with breast cancer, the 10-year CBC risk was 15.6%. The risk of CBC in women with a rst-degree relative with bilateral breast cancer was similar to that of genetic muta­tion carriers [33].
There is no randomized controlled trial show­ing the survival benet of CPM.There are many studies in the literature showing the survival advantage of CPM; however, the survival advan­tage may be due to the selection bias of patients, e.g., those with younger age and no comorbid dis­eases. Peralta etal. (2000) compared two groups of patients matched in terms of age, tumor stage, surgical modality, and adjuvant therapy, and they found the 15-year disease-free survival (DFS) rate as 55% in the CPM group and 28% in the non-CPM group, and CBC was detected during the 6.2years’ follow-up in 36/182 patients with
unilateral mastectomy [34]. In a retrospective cohort study of 50,000 women with unilateral breast cancer, the CBC rate in the CPM group was 0.5% during the 5.7years of follow-up and
2.7% in the group without CPM, and the HR of death of breast cancer was 0.57 [35].
A study of patients who underwent CPM from the SEER database between 1998 and 2010 showed that patients with increased age, greater tumor size or nodal involvement, poorly differ­entiated histology, and estrogen receptor (ER) negativity had an increased risk of death due to cancer and CPM had a survival benet. However, if patients with CBC were excluded from the analysis, the survival advantage of CPM did not change. This condition suggests that patients who underwent CMP may already have a better prognosis and this survival benet might result from a selection bias of cases [36]. In the sys­tematic review and meta-analysis of Fayanju etal. (2014), patients who underwent CPM had better OS (RR: 1.09) and a reduced risk of breast cancer-related death (RR: 0.69) than those non­CPM patients. In a group of high-risk women due to family history or genetic predisposition, there was an absolute risk reduction of CBC in the CPM group, but there was no survival advan­tage detected. The researchers commented that the increase in survival in CPM group was not due to a decreased rate of CBC cancer but might be due to selection bias of patients with younger age and better health [37]. As a result, exclud­ing the BRCA carriers, CPM is not associated with survival benet [30]. The NCCN Breast Cancer Guideline 2020 recommended that CPM should be discouraged for women with unilat­eral breast cancer other than high-risk women recommended in Breast Cancer Risk Reduction Guideline 2020 [8, 38].
As a result of the consensus statement of the ASBrS, CPM should be considered in women with BRCA1-2 mutation, strong family his­tory without known genetic predisposition, and women with a history of chest radiation before age 30years. CPM can be considered in women with a strong family history and negative genetic result and carriers of genes other than BRCA 1-2, e.g., CHEK-2, and p53 [32].
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M. K. Atahan and B. Özçınar
8.6 Surgical Outcomes
There are risks and benets of prophylactic mas­tectomies. BPM and CPM reduce breast cancer risk by more than 90% [30, 39–42]. Hartmann etal. (1999) studied 639 women with moderate­to- high risk for breast cancer according to their family history, and the 14-year follow-up results concluded that the breast cancer occurrence rate decreased 89.5% in women with moderate risk and 90–94% in women with high risk. Also, breast cancer-related death decreased 100% in women with moderate risk and 81–94% in women with high risk who underwent BPM [39]. Boughey etal. (2010) revealed the results of 385 women with stage 1 and 2 breast cancer who had a family history and showed that CPM reduced the CBC rate about 95% and had better 10-year OS rates (83% vs.74%) and DFS with an HR of
0.67 [40]. Generally, mastectomies have low morbid-
ity and also decrease the anxiety of recurrence. Several studies showed higher surgical complica­tions rates with either BPM or CPM.In the study of Miller etal. (2013), CPM was associated with a higher rate for any surgical complications (OR:
1.53) and also a higher risk for major complica-
tions (OR: 2.66) [43]. All women need breast reconstruction after BPM or CPM.In women with implant-based reconstruction, the overall compli­cation rate was 1.2 times higher in the bilateral mastectomy group, and with autologous recon­structions, the rate was 1.6 times higher than in the unilateral mastectomy group. However, sur­gical site infections, implant failure, and medical complications were similar in both the unilateral mastectomy and bilateral mastectomy groups [44]. BPM and CPM can also increase compli­cations rate requiring reoperation, and potential comorbidities increased these risks. The occur­rence of any major complications delayed the adjuvant treatment and indirectly affected the survival outcome.
The cosmetic results of unilateral mastectomy
may be worse than bilateral mastectomy and reconstruction, especially in patients with unilat­eral breast cancer. CPM may be considered for good cosmetic results, to improve breast symme-
try and also to reduce the anxiety of CBC.Women with unilateral mastectomy are less satised by their body image than those who undergo bilateral mastectomies [42]. On the other hand, women with bilateral mastectomies have decreased sex­ual satisfaction and feel themselves to be less sexually attractive. Additionally, many patients reported the results to be worse than expected. However, women who choose BPM tend to be more anxious regarding breast cancer occurrence and BPM decreases their anxiety level.
Therefore, the risk–benet analysis of both BPM and CPM for each patient should be well discussed with the patient whose preference should be considered. Any women at high risk for breast cancer should be considered for BPM, and women at high risk for CBC should be con­sidered for CPM.However, if the primary tumor is advanced and patients have several comor­bidities, which would increase the risk of surgi­cal complications and have no increased risk of CBC, CPM should be discouraged [30].
8.7 Conclusion
The prophylactic mastectomy decision is a highly personal decision and wtext fomen should be informed that the risk of breast cancer does not disappear with prophylactic mastectomies, only reduced by 90–95%, and that every surgi­cal modality has potential risks and sometimes reoperations may be required.
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