Добавил:

Sekretar kiopkiopkiop18@yandex.ru t.me/Prokururor I Вовсе не секретарь, но почту проверяю Опубликованный материал нарушает ваши авторские права? Сообщите нам.

Вуз:

Ростовский Государственный Медицинский Университет

Предмет:

Медицина общая

Файл:

@xirurgi_2025 - 625 - файл

.pdf

Скачиваний:

Добавлен:

29.08.2026

Размер:

20 Мб

Скачать

☆

<<< < Предыдущая 1 2 3 4 5 6 78 / 508 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 > Следующая >>>

7 Genetic Predispositions andProphylactic Mastectomy inBreast Cancer Patients

Данная книга находится в списке для перевода на русский язык сайта https://meduniver.com/

years, younger women with breast cancer have a pervasive tendency towards genetic testing. Thus, the prevalence of the mutation carriers has been revealed to screen possible risk factors and to provide early diagnosis and treatment. American Society of Clinical Oncology (ASCO), National Comprehensive Cancer Network (NCCN), and European Society for Medical Oncology (ESMO) guidelines provide invaluable information for identifying possible candidates and eligibility criteria for genetic testing [29–31].

NCCN guidelines recommend genetic testing for individuals at risk in a broad spectrum including: breast cancer aged ≤45 up to 50years; triple- negative molecular-type aged ≤60 years; Ashkenazi Jewish at any age; two or primary breast cancer history; ovarian epithelial or fallopian tube cancer, or primary peritoneal cancer; breast cancer at any age with rst-, second-, third-degree relative diagnosed breast cancer ≤50years; male breast cancer; exocrine pancreas cancer at any age; high-grade with Gleason score >7 or metastatic prostate cancer. Guidelines have also expanded the suggestions for genetic testing in patients who are at risk for hereditary breast and/or ovarian cancer (HBOC). Patients with a close blood relative to whom genetic testing was interpreted as a pathologic/likely pathogenic variant in a susceptibility gene are referred for cascade testing to demonstrate germline status of high- and moderate-penetrance gene mutations for the patient and family members. Centers for Disease Control and Prevention have considered cascade testing as a tier 1 genomic application for patients with Lynch syndrome and HBOC [23,

32]. Previously limited testing for patients meet-

ing the criteria above resulted in 6–10% of misdiagnosis in mutation rates of BRCA1 and BRCA2 genes, especially before 2006. Multigene testing is highly recommended for previously tested individuals to determine potential mutations in other breast cancer susceptibility genes. In addition to these recommendations mentioned above, The American Society of Breast Surgeons has suggested that genetic testing has to be applicable for individuals with a personal history of breast cancer [33].

7.3 Hereditary Breast Cancer Surveillance andRiskReducing Treatments

7.3.1 Surveillance

Identication of a pathological and/or likely pathological mutation in a specic allele and genetic inheritance renders possible surveillance and early management of the risk-reducing therapeutic options for patients with or without breast cancer. Surveillance should be prioritized depending on patients’ age, personal and familial history of breast and other cancer, the rst onset of cancer in a family member, and expectations of childbearing [30]. BRCA mutation carriers must consider breast awareness and self- examination starting at age 18, regular expert clinical breast examination every 6–12months starting at age 25, and contrast-enhanced magnetic resonance imaging (MRI) annually starting at age 25–29 followed by annual mammography (MG). Adjunctive utilization of MG and MRI increases the detection rates of breast cancer in the early stages up to 94% and decrease mortality rates at 5 years [34]. A recent meta-analysis, which stratied patients by mutation status and age, has demonstrated the contribution of MG to MRI resulted in a 3.9 and 12.6% increase in screening sensitivity of BRCA1 and BRCA2 mutation carriers, respectively. Besides, adjunctive MG also contributes to screening sensitivity in BRCA2 mutation carriers under 40years old, indicating that distinct and personal screening scheme has to be taken into consideration according to the mutation status [35].

7.3.2 Chemoprevention

Risk-reducing surgeries and chemoprevention are substantial therapeutic options for highrisk patients carrying a 40–50% lifetime risk of cancer. There are limited data in the literature regarding the preventive benet of hormonal chemoprevention in BRCA1 and BRCA2 mutation carriers. National Surgical Adjuvant Breast and

A. Soran and K. Senol

Bowel (NSABP) Breast Cancer Prevention Trial (P-1 trial) has revealed a 62% risk reduction (relative risk [RR] 0.38, 95% CI 0.06–1.56) in breast cancer with tamoxifen in BRCA2 mutation carriers, similar to the reduced incidence of estrogen receptor-positive breast cancer among all women [36]. In contrast, tamoxifen did not improve breast cancer incidence among healthy BRCA1 mutation carriers aged 35 and older in the P-1 trial (RR

1.67, 95% CI 0.32–10.07). BRCA1 mutation carriers have a tumor more likely to be high-grade medullary morphology with basal-like immunophenotype, which lacks estrogen receptor, progesterone receptor, and human epidermal growth factor receptor-2, and increased tp53, cytokeratin 5/6, cytokeratin 14/17, and epidermal growth factor [37]. Hormonal chemoprevention is less effective as a risk-reducing option for BRCA1 mutation carriers seeking surveillance without mastectomy. Recent studies proposed decreased rates in ipsilateral recurrence and contralateral breast cancer with adjuvant tamoxifen therapy in BRCA mutation carriers. Preventive benets of aromatase inhibitors in mutation carriers are lacking in the literature; however, extensive chemoprevention studies provided decreased breast cancer risk in high-risk postmenopausal patients with aromatase inhibitor therapy [38, 39].

7.4 Hereditary Breast Cancer andRisk-Reducing Surgery

7.4.1 Bilateral Prophylactic Mastectomy

Risk-reducing surgery in high-risk patients and BRCA mutation carriers yields remarkable success in preventing the development of primary breast cancer, ipsilateral breast cancer recurrence, contralateral breast cancer, and ovarian cancer. Prophylactic mastectomy (PM) and prophylactic salpingo-oophorectomy (PSO) are the mainstays of the therapeutic procedures with favorable outcomes regarding genetic inheritance. High- and moderate-penetrance genes in mutation carriers present with a 5- to 20-fold increase in breast and subsequent cancers, although it has been shown

that PM reduces the risk of ipsilateral and contralateral breast cancer by 90–97% especially in patients with BRCA1 and BRCA2 mutations (Table7.1) [68].

In 1998, Hartmann et al. have conducted a retrospective analysis of 639 women who underwent bilateral PM with the diagnosis of highand moderate-risk of breast cancer depending on the family history. This study has presented a signicant risk reduction in breast cancer incidence and breast cancer-related deaths in bilateral PM patients compared to the predicted deaths according to the risk-assessment models and incidence of breast cancer in close relatives at a median follow-up time of 15years [47]. The latter study, including a retrospective analysis of BRCA mutation carriers in the same cohort of patients, revealed that bilateral PM was provided complete risk reduction in 26 mutation carriers with no evidence of breast cancer after a median of 13.4years of follow-up [48]. Meijers-Heijboer etal. have demonstrated in a prospective study that bilateral PM in BRCA mutation carriers was consistent with 100% risk reduction in invasive disease during 3 years follow-up, whereas surveillance had a 2.5% risk of breast cancer per year [49]. However, this study had a bias in favor of risk-reducing surgery regarding premenopausal PSO rates, which were 58% and 38% in bilateral PM and surveillance groups, respectively. Prevention and Observation of Surgical Endpoints (PROSE) study group has prospectively matched the bilateral PM and surveillance group of patients based on PSO and has conrmed a relative breast cancer risk reduction of 95% in patients with prior or concurrent PSO and 90% in patients with intact ovaries [50]. Domcheck et al. have presented 2482 women who tested positive for BRCA1 and BRCA2 mutation with similar breast cancer risk reduction in both bilateral PM and PSO group. However, breast cancer incidence was signicantly reduced among BRCA1 patients who had a PSO before 50years old (HR=1.36; 95% CI: 0.26–7.05, p =0.02). PSO and bilateral PM have also signicantly reduced the breast cancer incidence in BRCA1 and BRCA2 mutation carriers without previous breast cancer, but PSO did not affect ipsilateral

7 Genetic Predispositions andProphylactic Mastectomy inBreast Cancer Patients

Данная книга находится в списке для перевода на русский язык сайта https://meduniver.com/

Clinical breast examination

every 6–12months starting

at age 25years, or 10years

before the rst onset of

cancer in a relative, annual

contrast-enhanced MRI

starting at age 25 with the

addition of mammography

starting at age 30

Recommend risk-reducing

salpingo-oophorectomy at

age 35–40, consider

risk-reducing mastectomy

Clinical breast examination

every 6–12months starting

at age 20–25years, annual

contrast-enhanced MRI

starting at age 20–75 or if

MRI is unavailable,

mammography may be

considered starting at age 30

Consider risk-reducing

Breast cancer management and surveillance

NCCN recommendations [29] ESMO recommendations [30]

Breast awareness at age 18

Clinical breast examination every

6–12months starting at age

20–25years or individualized based

on breast cancer history in a relative

before 30years

Annual mammography with

consideration of tomosynthesis,

annual contrast-enhanced MRI

starting at age 30–75years

Recommend risk-reducing

salpingo-oophorectomy between 35

and 40years

Consider risk-reducing mastectomy

Clinical breast examination every

6–12months starting at age 20years,

annual contrast-enhanced MRI at age

20–29years

Annual contrast-enhanced breast

MRI or mammography at age

30–75years

Consider risk-reducing mastectomy

Avoid therapeutic radiation therapy

mastectomy

Avoid radiation therapy

Clinical breast examination

Clinical breast examination every

every 6–12months starting

at age 20–25years, annual

contrast-enhanced MRI

starting age at 20–29, annual

MRI and/or mammography

starting at age 30–75years

Consider risk-reducing

mastectomy

6–12months starting at age

20–25years

Annual mammography with

consideration of tomosynthesis,

annual contrast-enhanced MRI

starting at age 30years

Consider risk-reducing mastectomy

(continued)

Breast cancer risk and

incidence, median age, and

tumor subtype

Incidence 1/300

Relative risk 11.4

Median age 42years

Triple negative, basal-like

tumors

Incidence 1/800

Relative risk 11.7

Median age 45years

Luminal phenotype tumors

breast cancer (%)

60% by age 70

(95% CI 44–75%)

Associated tumors Lifetime risk of

Genes and associated

for mutation carriers

Table 7.1 Hereditary syndromes and clinical signicance of associated genes in familial breast cancer, and guideline recommendations for risk-reducing and screening options

Gynecologic,

pancreatic and

syndrome

BRCA1, hereditary

breast and ovarian

High-

penetrance

prostate tumors,

Cancer [11, 39, 40]

genes

55% by age 70

(95% CI 41–70%)

melanoma

BRCA2, hereditary

breast and ovarian

Cancer [11, 39, 40]

Incidence 1/5000 to 1/20,000

Relative risk 6.4 (95% CI

4.3–9.3)

Median age 33years (range

22–60)

85% by age 60

(95% CI 60–92%)

[31]

Soft tissue

sarcomas, brain

and

adrenocortical

tumors,

TP53, Li-Fraumeni

syndrome [41, 42]

Increased HER-2 receptor-

positive tumors

medulloblastoma,

leukemia

No increased risk

of ovarian cancer

Incidence unknown

Relative risk 6.6 (95% CI

2.2–19.9)

Median age 53years

Invasive lobular carcinoma

39% by age 80

(95% CI 23–68%)

[22]

Gastric tumors

No increased risk

of ovarian cancer

CDH-1, hereditary

diffuse gastric

Cancer syndrome

[22, 43]

Clinical breast examination

every 6–12months starting

at age 20–25years, annual

contrast-enhanced MRI

Breast cancer management and surveillance

NCCN recommendations [29] ESMO recommendations [30]

Clinical breast examination every

6–12months starting at age 20years

Annual mammography with

consideration of tomosynthesis,

starting and/or

mammography starting at

age 30–75, annual

endometrial ultrasound ±

biopsies at age 30–35

Consider risk-reducing

mastectomy and

hysterectomy

Clinical breast examination

every 6–12months starting

annual contrast-enhanced MRI

starting at age 30–35years, or

5–10years before rst onset of

breast cancer in a relative,

endometrial cancer screening starting

at age 35

Consider risk-reducing mastectomy

and hysterectomy

Clinical breast examination every

6–12months starting at age 20years,

at age 20–25years, annual

contrast-enhanced MRI

starting at age 20–29years,

annual breast MRI and/or

mammography starting at

age 30–75years

Consider risk-reducing

mastectomy

Clinical breast examination

every 6–12months starting

Annual contrast-enhanced MRI at

age 20–29years, annual breast MRI

or mammography at age 30–75years

Risk-reducing mastectomy is not

recommended and may be

considered based on family history

Clinical breast examination every

6–12months starting at age 20years

A. Soran and K. Senol

at age 20–25years, annual

contrast-enhanced MRI

starting age at 20–29, annual

MRI and/or mammography

starting at age 30–75years

Consider risk-reducing

mastectomy

Annual mammography with

consideration of tomosynthesis,

annual contrast-enhanced MRI

starting at age 30years

Consider risk-reducing mastectomy

Breast cancer risk and inci-

dence, median age, and tumor

subtype

Incidence 1/200,000

Relative risk is unreliable

Lifetime risk of

breast cancer (%)

77% by age 70

(95% CI 59–91%)

Endometrial,

thyroid,

Genes and associated

syndrome Associated tumors

PTEN, Cowden

syndrome [44, 45]

Table 7.1 (continued)

Median age 42years [34–38,

46–49]

Increased risk of benign

breast changes

gastrointestinal

and renal tumors

No increased risk

of ovarian cancer

Incidence 1/155,000

Relative risk 15.2 (95% CI

7.6–27) (1,113,065)

Median age 37years (range

9–44)

Invasive ductal carcinoma

45% by age 70

(95% CI 27–68%)

Mucocutaneous

pigmentation,

hamartomatous

polyps,

gastrointestinal

system cancers,

STK11, Peutz-

Jeghers syndrome

[50, 51]

pancreas, ovarian,

and other

Incidence 1/100 to 4/100

gynecologic

cancers, gonadal

tumors

Pancreas 35% by age 70

PALB2, familial

Relative risk 5.3 (95% CI

3–9.4)

(95% CI 26–46%)

breast Cancer [24,

52, 53]

7 Genetic Predispositions andProphylactic Mastectomy inBreast Cancer Patients

Данная книга находится в списке для перевода на русский язык сайта https://meduniver.com/

Annual endometrial

ultrasound ± biopsies at age

30–35

Consider risk-reducing

hysterectomy and salpingo-

oophorectomy after

completion of childbearing

Clinical breast examination every

6–12months starting at age 20years

Annual mammography beginning at

40years of age with consideration of

annual contrast-enhanced breast

MRI,

Consider risk-reducing hysterectomy

and salpingo-oophorectomy after

completion of childbearing

Clinical breast examination

every 6–12months starting

at age 20–25years, annual

contrast-enhanced MRI

starting age at 20–29, annual

MRI and/or mammography

starting at age 30–75years

Consider annual breast MRI

Consider risk-reducing mastectomy

depending on the family history

Clinical breast examination every

6–12months starting at age 20years

Annual mammography beginning at

40years of age with consideration of

annual contrast-enhanced breast MRI

Consider risk-reducing mastectomy

depending on the family history

Clinical breast examination every

(no evidence regarding the

age of onset)

6–12months starting at age 20years

Annual mammography beginning at

40years of age with consideration of

annual contrast-enhanced breast MRI

Consider risk-reducing mastectomy

depending on the family history

Consider risk-reducing salpingo-

oophorectomy depending on the

(continued)

family history

1/370 to 1/3000

Median age 53years

Relative risk 3.95 (95% CI

1.59–8.13)

18.6% by age 70

(95% CI

11.3–26%)

Colon,

endometrium,

ovarian, and

stomach

MSH1, MLH1,

MSH6, PMS2,

EPCAM, lynch

syndrome [54, 55]

Relative risk 3.0 (95% CI

2.6–3.5)

Mean age 50years

Luminal phenotype tumors

28–37% by age 70

(95% CI 20–56%)

Male breast

cancer, stomach,

colon, prostate,

kidney and

thyroid tumors,

sarcoma

CHEK2, familial

breast Cancer,

c.100delC [56–58]

Moderate-

penetrance

genes

Incidence 1/40,000 to

1/300,000

Relative risk 2.8 (95% CI

32.8% by age 80

(95% CI

24.5–40.3%)

No increased risk

of ovarian cancer

Ovarian,

pancreatic, and

prostate tumors

ATM, Familial

Breast Cancer [59]

2.2–3.7)

Median age 40–50years

Consider risk-reducing

salpingo-oophorectomy after

the age of 45

Breast cancer management and surveillance

NCCN recommendations [29] ESMO recommendations [30]

Unknown or insufcient data for

breast cancer risk, recommend breast

cancer screening based on the family

history

Consider risk-reducing

salpingo-oophorectomy after

the age of 45

Consider risk-reducing salpingo-

oophorectomy at age 45–50 or

depending on the family history

No evidence of association for breast

cancer risk, recommend breast

cancer screening based on the family

N/A

history

Consider risk-reducing salpingo-

oophorectomy at age 45–50 or

depending on the family history

Annual mammography beginning at

40years of age with consideration of

annual contrast-enhanced breast MRI

Risk-reducing mastectomy and

salpingo-oophorectomy is not

A. Soran and K. Senol

N/A

recommended and may be

considered based on family history

There are no specic management

and surveillance guideline for breast

cancer risk in mutation carriers

Surveillance should be individualized

Breast cancer risk and inci-

dence, median age, and tumor

subtype

Incidence <1/1000

Relative risk for ovarian

Lifetime risk of

breast cancer (%)

9% by age 80 for

ovarian cancer

Ovarian cancer,

lung, kidney,

Genes and associated

syndrome Associated tumors

RAD51 paralog D,

Familial Breast

Table 7.1 (continued)

cancer is 6.3 (95% CI

2.8–13.8)

Median age for ovarian

cancer is 60years

No evidence of association

for breast cancer

Relative risk for breast cancer

brain, pancreatic,

liver, colorectal

tumors

Cancer [60]

RAD51 paralog C,

Familial Breast

Cancer [60]

0.91 (95% CI 0.45–1.86)

Triple-negative breast cancer

Incidence 1/100

Relative risk for ovarian

cancer is 11.2 (95% CI

3.2–34.1)

Median age for ovarian

cancer is 50–55years

5.8% by age 80 for

ovarian cancer

(95% CI

3.6–9.1%)

Ovarian cancer,

Fanconi anemia

BRIP1, Familial

Breast Cancer [61]

Triple-negative breast cancer

Relative risk 3.1 (95% CI

1.4–6.6)

Prostate cancer 20–30% by age 80 Incidence 1/167

NBN, familial breast

Cancer, c.657del5

[62, 63]

Relative risk 2.16 (95% CI

1.31–3.63)

Triple-negative and bilateral

breast cancer [65]

20% by age 80 Incidence <1/1000

Neuroblastoma,

lung and colon

cancer

BARD1, Familial

Breast Cancer [64]

7 Genetic Predispositions andProphylactic Mastectomy inBreast Cancer Patients

Данная книга находится в списке для перевода на русский язык сайта https://meduniver.com/

N/A

Annual mammography beginning at

30years of age with consideration of

annual contrast-enhanced breast MRI

at age 30–50

Relative risk 2.6 (95% CI

2.1–3.2)

Median age 46years

Invasive ductal carcinoma

N/A

There are no specic management

and surveillance guideline for breast

cancer risk in mutation carriers

Surveillance should be individualized

Breast cancer risk decreases

over 50years

Up to 1.25-fold increase for

heterozygous mutations

Up to 1.65-fold increase for

homozygous mutations

20% by age 80 Incidence 1/3000 to 1/5000

Malignant

peripheral nerve

sheath tumors,

GIST

No increased risk

NF1,

Neurobromatosis

Syndrome [66]

<20% lifetime risk

of breast cancer in

of ovarian cancer

MUTHY

RAD50

Low-

penetrance

mutation carriers.

MRE11A

FANCC

RECQL4

RINT1

SLX4

genes

SMARCA4

XRCC2 [52]

A. Soran and K. Senol

breast recurrence in mutation carriers [69]. Riskreducing surgeries not only reduce breast and ovarian cancer incidence but also improve survival rates among females in both BRCA1 and BRCA2 mutation carriers [70]. To date, the survival benet of bilateral PM was controversial. An exploratory study conducted by Ingham etal. mentioned 10-year survival rates of BRCA1 and BRCA2 mutation carriers without prior breast cancer following risk-reduction surgery as 98.9% (92.2–99.5%) and 98% (91.1–99%), respectively. This study has improved survival for bilateral PM and PSO procedures by linking rst-degree relatives to the BRCA mutation carriers to overcome the bias of tapered interests in genetic testing on diagnosis [71]. Thus, survival benet regarding PM requires further prospective studies in a large cohort of patients with long-term followup. BRCA mutation carriers have the highest risk for breast and ovarian cancer, whether they have an intense surveillance program and options for risk-reducing surgery. Several studies have investigated the survival benet or survival gain from bilateral PM via theoretical modeling in BRCA mutation carriers [72, 73]. The estimated gain in life expectancy was declined by aging and was minimized for patients older than 60years. Recent modeling proposed 25.6% of patients will die of the disease without risk-reducing surgery before 80years old, which could be avoided by mastectomy at age 25. BRCA mutation carriers would gain 2.6 and 3.3years of life expectancy from bilateral PM at age 35 and age 25, respectively [74].

7.4.2 Contralateral Prophylactic Mastectomy

The tendency of genetic testing is tremendously increasing in young women with breast cancer, and clinical management is relatively confusing for patients seeking for surveillance and surgical treatment [75, 76]. Breast-conserving surgery and radiotherapy result in favorable outcomes and survival rates in sporadic breast cancer so that the role of local therapy for mutation carriers is debated with conicting clinical outcomes

in the literature [77]. Ipsilateral breast cancer recurrence and contralateral breast cancer following breast-conserving surgery and radiotherapy are signicantly increased in mutation carriers as compared to the sporadic cases [78,

79]. Ipsilateral breast cancer recurrence risk in

a patient who has an evident family history is increasing up to 13% at 10years after the diagnosis of primary disease [80]. BRCA mutation carriers have a contralateral breast cancer risk of 17% at 5years and 30% at 10years or almost 3% per year after breast-conserving surgery [81, 82]. Prophylactic contralateral mastectomy (CM) should be considered for high-risk patients to minimize these risk factors and tumor recurrences. Younger age at disease onset, history of PSO, and unilateral mastectomy have been presented as predictors of contralateral prophylactic mastectomy in women with a BRCA1 or BRCA2 mutation [83]. Sprundel etal. have demonstrated in a retrospective study, including 148 BRCA mutation carriers who treated for invasive breast cancer stages I–IIIa, that prophylactic CM reduced the risk of contralateral breast cancer 91% regardless of PSO [84]. The survival benet of prophylactic CM was found to be related to the PSO in that cohort of patients. Metcalfe et al. have reviewed the 20-year survival experience of 390 BRCA mutation carriers with early-stage breast cancer and suggested that patients treated with bilateral mastectomy have an increased likelihood of survival than those treated with unilateral mastectomy [85]. The survival rates of bilateral and unilateral mastectomy groups were 88% and 66%, respectively, with a signicant 48% reduction in death from cancer for prophylactic CM (HR:0.52 95% CI 0.29–0.93, p= 0.03). These studies have identied the breast cancer risk reduction and survival benet of prophylactic CM, but the data were insufcient to distinguish the preventive effects of PSO from the CM on survival. Evans et al. have compared the survival rates of prophylactic CM and non-CM in patients with BRCA mutation and matched the groups by mutation type, PSO, tumor grade, and stage [86]. This study has demonstrated signicantly better survival rates for prophylactic CM,

7 Genetic Predispositions andProphylactic Mastectomy inBreast Cancer Patients

Данная книга находится в списке для перевода на русский язык сайта https://meduniver.com/

regardless of PSO.Thus, more extensive series would indicate prophylactic CM as a counseling option on diagnosis to improve survival.

7.4.3 Operative Approaches

Prophylactic mastectomy procedures include total mastectomy, skin-sparing mastectomy, and subcutaneous (nipple-sparing) mastectomy. In a prospective study, local recurrence rates of skin- sparing mastectomy were found to be 0–7% comparable to the total mastectomy [87]. A meta- analysis of nine retrospective series comprising 3739 patients has also demonstrated similar local recurrence rates in between skin-sparing and total mastectomy procedures [88]. There has been no randomized controlled trial comparing the efcacy and oncologic safety of the nipplesparing mastectomy with total mastectomy and skin-sparing mastectomy. Local recurrence rates, 5-year disease-specic survival rates, and mortality rates were similar for nipple-sparing and skinsparing mastectomy procedures in several studies [89]. Nipple-sparing mastectomy is controversial in BRCA mutation carriers due to the remaining substantial amount of breast tissue, which provides a higher risk for breast cancer recurrences during postoperative surveillance [50]. However, Jakub et al. have retrospectively reviewed the outcomes of nine institutions’ data from 1968 to 2013in a cohort of patients with BRCA mutations in terms of oncologic safety of prophylactic nipple-sparing mastectomy. They have presented no ipsilateral or contralateral breast cancer recurrence in any patients who underwent nipplesparing mastectomy within a median follow-up time of 36months [90]. Although follow-up times after risk-reducing surgery were insufcient to make precise comments, such studies have also demonstrated the efcacy and the oncologic safety of nipple-sparing mastectomy in BRCA mutation carriers [91, 92]. While nipple- sparing mastectomy and immediate reconstruction with breast implants is the most preferred procedure, multiple experienced centers have implicated this procedure into routine clinical practice for riskreducing surgery [93, 94].

7.5 Conclusion

Clinical management is relatively confusing of breast cancer patients with gene test positivity. Since studies are providing more information for breast cancer genes, guidelines for genetic counseling and testing are changing frequently. Therefore, regarding surgery or surveillance in the group of patients should be discussed case by case with their input and discussion from all stakeholders including genetic consular and patient.

References

1. World Health Organisation, International Agency for Research on Cancer, GLOBOCAN 2018 database. Cancer Today. 2020. http://gco.iarc.fr/today/home.

2. Bray F, Ferlay J, Soerjomataram I, Siegel RL, Torre LA, Jemal A. Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin. 2018;68(6):394–424.

3. Ferlay J, Colombet M, Soerjomataram I, Mathers C, Parkin DM, Piñeros M, et al. Estimating the global cancer incidence and mortality in 2018: GLOBOCAN sources and methods. Int J Cancer. 2019;144(8):1941–53.

4. Armaroli P, Riggi E, Basu P, Anttila A, Ponti A, Carvalho AL, etal. Performance indicators in breast cancer screening in the European Union: a comparison across countries of screen positivity and detection rates. Int J Cancer. 2020;147(7):1855–63.

5. Howlader N, Noone AM, Krapcho M, Miller D, Brest A, Yu M, Ruhl J, Tatalovich Z, Mariotto A, Lewis DR, Chen HS, Feuer EJ, Cronin KA, editors. SEER cancer statistics review, 1975–2017. Bethesda, MD: National Cancer Institute; 2020. https://seer.cancer.

gov/csr/1975_2017/, based on November 2019 SEER

data submission, posted to the SEER web site.

6. Alsop K, Fereday S, Meldrum C, de Fazio A, Emmanuel C, George J, et al. BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group. J Clin Oncol. 2012;30(21):2654–63.

7. Margolin S, Johansson H, Rutqvist LE, Lindblom A, Fornander T.Family history, and impact on clinical presentation and prognosis, in a population-based breast cancer cohort from the Stockholm County. Fam Cancer. 2006;5(4):309–21.

8. Couch FJ, Nathanson KL, Oft K. Two decades after BRCA: setting paradigms in personalized cancer care and prevention. Science (New York, NY). 2014;343(6178):1466–70.

A. Soran and K. Senol

9. Ford D, Easton DF, Peto J. Estimates of the gene frequency of BRCA1 and its contribution to breast and ovarian cancer incidence. Am J Hum Genet. 1995;57(6):1457–62.

10. Kuchenbaecker KB, Hopper JL, Barnes DR, Phillips KA, Mooij TM, Roos-Blom MJ, et al. Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. JAMA. 2017;317(23):2402–16.

11. Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, 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):1117–30.

12. Mavaddat N, Peock S, Frost D, Ellis S, Platte R, Fineberg E, et al. Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. J Natl Cancer Inst. 2013;105(11):812–22.

13. SEER Cancer Statistics Review, 1973–2000. New malignancies among cancer survivors: SEER Cancer Registries. 2020. http://seer.cancer.gov/archive/publi-

cations/mpmono/. Accessed 17 Jul 2019.

14. American Cancer Society. Key statistics for breast cancer in men: American Cancer Society. 2020.

http://www.cancer.org/cancer/breastcancerinmen/ detailedguide/breast- cancer- in- men- key- statistics.

Accessed 17 Jul 2019.

15. SEER Cancer Registries. SEER Cancer Statistics Review, 1975–2011. 2020. http://seer.cancer.gov/

csr/1975_2011/. Accessed 17 Jul 2019.

16. Melanoma Research Alliance. Melanoma statistics.

https://www.curemelanoma.org/about- melanoma/ melanoma- statistics- 2. Accessed 1 Nov 1 2019. 2020. https://www.curemelanoma.org/about- melanoma/ melanoma- statistics- 2. Accessed 1 Nov 2019.

17. Moran A, O’Hara C, Khan S, Shack L, Woodward E, Maher ER, etal. Risk of cancer other than breast or ovarian in individuals with BRCA1 and BRCA2 mutations. Fam Cancer. 2012;11(2):235–42.

18. Breast Cancer Linkage Consortium. Cancer risks in BRCA2 mutation carriers 1999 [updated Aug 4. 1999/08/05:[1310-6].

19. Mersch J, Jackson MA, Park M, Nebgen D, Peterson SK, Singletary C, et al. Cancers associated with BRCA1 and BRCA2 mutations other than breast and ovarian. Cancer. 2015;121(2):269–75.

20. Malkin D. Li-Fraumeni syndrome. Genes Cancer. 2011;2(4):475–84.

21. Giardiello FM, Brensinger JD, Tersmette AC, Goodman SN, Petersen GM, Booker SV, et al. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology. 2000;119(6):1447–53.

22. Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E. Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. J Natl Cancer Inst. 2013;105(21):1607–16.

23. Hansford S, Kaurah P, Li-Chang H, Woo M, Senz J, Pinheiro H, et al. Hereditary diffuse gastric cancer syndrome: CDH1 mutations and beyond. JAMA Oncol. 2015;1(1):23–32.

24. Walsh MD, Buchanan DD, Cummings MC, Pearson SA, Arnold ST, Clendenning M, etal. Lynch syndromeassociated breast cancers: clinicopathologic characteristics of a case series from the colon cancer family registry. Clin Cancer Res. 2010;16(7):2214–24.

25. Antoniou AC, Casadei S, Heikkinen T, Barrowdale D, Pylkäs K, Roberts J, et al. Breast-cancer risk in families with mutations in PALB2. N Engl J Med. 2014;371(6):497–506.

26. Lalloo F, Evans DG. Familial breast cancer. Clin Genet. 2012;82(2):105–14.

27. Easton DF, Pharoah PD, Antoniou AC, Tischkowitz M, Tavtigian SV, Nathanson KL, et al. Gene-panel sequencing and the prediction of breast-cancer risk. N Engl J Med. 2015;372(23):2243–57.

28. National Cancer Institute cancer trends progress report, genetic testing. 15 Mar 2020. https://progress-

report.cancer.gov/prevention/genetic_testing.

29. Tung NM, Boughey JC, Pierce LJ, Robson ME, Bedrosian I, Dietz JR, etal. Management of hereditary breast cancer: American Society of Clinical Oncology, American Society for Radiation Oncology, and Society of Surgical Oncology guideline. J Clin Oncol. 2020;38(18):2080–106.

30. National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology. Genetic/ familial high-risk assessment: Breast and ovarian.

2020. https://www.nccn.org/professionals/physician_

gls/pdf/genetics_bop.pdf. Accessed 4 Feb 2020.

31. Paluch-Shimon S, Cardoso F, Sessa C, Balmana J, Cardoso MJ, Gilbert F, etal. Prevention and screening in BRCA mutation carriers and other breast/ovarian hereditary cancer syndromes: ESMO clinical practice guidelines for cancer prevention and screening. Ann Oncol. 2016;27(Suppl 5):v103–v10.

32. Mai PL, Best AF, Peters JA, DeCastro RM, Khincha PP, Loud JT, etal. Risks of rst and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort. Cancer. 2016;122(23):3673–81.

33. American Society of Breast Surgeons consensus guideline on genetic testing for hereditary breast cancer. 2019. http://www.breastsurgeons.org/docs/

statements/Consensus- Guideline- on- GeneticTesting- for- Hereditary- Breast- Cancer.pdf. Accessed

27 Aug 2019.

34. Warner E, Messersmith H, Causer P, Eisen A, Shumak R, Plewes D.Systematic review: using magnetic resonance imaging to screen women at high risk for breast cancer. Ann Intern Med. 2008;148(9):671–9.

35. Le-Petross HT, Whitman GJ, Atchley DP, Yuan Y, Gutierrez-Barrera A, Hortobagyi GN, et al. Effectiveness of alternating mammography and magnetic resonance imaging for screening women with

<<< < Предыдущая 1 2 3 4 5 6 78 / 508 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 > Следующая >>>

Соседние файлы в папке @xirurgi_2025

#
29.08.202621 Мб0@xirurgi_2025 - 612 - файл.pdf
#
29.08.202621 Мб0@xirurgi_2025 - 617 - файл.pdf
#
29.08.202621 Мб0@xirurgi_2025 - 620 - файл.pdf
#
29.08.202620 Мб0@xirurgi_2025 - 622 - файл.pdf
#
29.08.202620 Мб0@xirurgi_2025 - 624 - файл.pdf
#
29.08.202620 Мб0@xirurgi_2025 - 625 - файл.pdf
#
29.08.202620 Мб0@xirurgi_2025 - 626 - файл.pdf
#
29.08.202620 Мб0@xirurgi_2025 - 630 - файл.pdf
#
29.08.202620 Мб0@xirurgi_2025 - 631 - файл.pdf
#
29.08.202620 Мб0@xirurgi_2025 - 632 - файл.pdf
#
29.08.202620 Мб0@xirurgi_2025 - 633 - файл.pdf