keyword
https://read.qxmd.com/read/38524061/paget-s-presentation-of-high-grade-ductal-carcinoma-in-situ-dcis-in-a-very-young-female-with-breast-cancer-2-brca2-mutation
#1
Sneha Butala, Chancée Forestier, Sugeetha Nithiananthan, Asilis J Defran, Nafisa K Kuwajerwala
This is a case of a previously healthy 29-year-old female with erythema and skin excoriations of the left breast nipple-areolar complex (NAC). After a repeat trial and failure of topical hydrocortisone, a diagnostic mammogram and nipple biopsy revealed Paget's disease (PD) of the nipple with ductal carcinoma in situ (DCIS). A subsequent genetic analysis found a breast cancer 2 ( BRCA2 ) gene mutation. Treatment consisted of a left breast skin-sparing simple mastectomy with sentinel lymph node (SLN) biopsy and immediate tissue expander placement for implant reconstruction...
February 2024: Curēus
https://read.qxmd.com/read/38487612/effectiveness-of-prophylactic-laparoscopic-surgery-for-benign-adnexal-mass-during-pregnancy-a-single-center-retrospective-study
#2
JOURNAL ARTICLE
Zaw Htet Naing, Rie Ozaki, Mari Kitade, Keisuke Murakami, Yu Kawasaki, Atsuo Itakura
OBJECTIVES: This study aimed to evaluate the effectiveness of prophylactic laparoscopic surgery for avoiding adnexal torsion in pregnant women with benign adnexal masses. MATERIALS AND METHODS: This report contains two analyses, each for a different group of patients. Analysis 1: Surgical and pregnancy outcomes were examined among the 126 cases who underwent laparoscopic assisted cystectomy for adnexal masses during pregnancy in our hospital between January 2001 and December 2020...
2024: Gynecology and Minimally Invasive Therapy
https://read.qxmd.com/read/38310954/the-effects-of-a-laparoscopy-by-single-port-endoscopic-access-in-benign-adnexal-surgery-a-randomized-controlled-trial-effects-of-a-laparoscopy-by-single-port-in-benign-adnexal-surgery
#3
JOURNAL ARTICLE
Andy Schmitt, Patrice Crochet, Audrey Pivano, Claire Tourette, Cindy Faust, Karine Baumstarck, Aubert Agostini
STUDY OBJECTIVE: To evaluate whether Laparoendoscopic Single-Site Surgery (LESS) offers advantages over conventional laparoscopy (CL) in benign adnexal surgery DESIGN: Randomized controlled study SETTING: Gynecology-Obstetrics Unit of the University Hospital of the Conception in Marseille, France PATIENT: Patients over 18 years requiring ovarian cystectomy or salpingo-oophorectomy by laparoscopy for symptomatic ovarian cysts requiring benign or prophylactic surgery. INTERVENTION: In the case of ovarian cysts, premenopausal patients typically undergo a unilateral cystectomy, while postmenopausal patients undergo a unilateral or bilateral salpingo-oophorectomy upon a patient's request...
February 2, 2024: Journal of Minimally Invasive Gynecology
https://read.qxmd.com/read/38201529/prophylactic-interventions-for-hereditary-breast-and-ovarian-cancer-risks-and-mortality-in-brca1-2-carriers
#4
REVIEW
Taoran Liu, Jing Yu, Yangyang Gao, Xinyang Ma, Shan Jiang, Yuanyuan Gu, Wai-Kit Ming
BACKGROUND: Hereditary breast and ovarian cancers (HBOCs) pose significant health risks worldwide and are mitigated by prophylactic interventions. However, a meta-analysis of their efficacy and the impact of different genetic variants on their effectiveness is lacking. METHODS: A systematic review and meta-analysis were conducted, adhering to Cochrane guidelines. The review encompassed studies that involved prophylactic interventions for healthy women with BRCA variants, focusing on cancer incidence and mortality outcomes...
December 24, 2023: Cancers
https://read.qxmd.com/read/38192174/fear-of-cancer-recurrence-in-breast-cancer-survivors-carrying-a-brca1-2-mutation-a-qualitative-study
#5
JOURNAL ARTICLE
Josée Savard, Catherine Filion, Claudia Mc Brearty, Aude Caplette-Gingras, Jocelyne Chiquette, Michel Dorval
BACKGROUND: There is preliminary evidence suggesting that FCR is a major problem for breast cancer survivors carrying a BRCA1/2 mutation. The goal of this qualitative study, conducted among women who were treated for breast cancer, was to provide a deeper understanding of how FCR is experienced in the context of a genetic predisposition to breast cancer. METHOD: Three focus groups (90-110 min) were conducted with 19 breast cancer survivors carrying a BRCA1/2 mutation...
January 8, 2024: Cancer Medicine
https://read.qxmd.com/read/38132373/beyond-sterilization-a-comprehensive-review-on-the-safety-and-efficacy-of-opportunistic-salpingectomy-as-a-preventative-strategy-for-ovarian-cancer
#6
REVIEW
Tahereh Zadabedini Masouleh, Holly Etchegary, Kathleen Hodgkinson, Brenda J Wilson, Lesa Dawson
Ovarian cancer (OC) is Canada's third most common gynecological cancer, with an estimated 3000 new cases and 1950 deaths projected in 2022. No effective screening has been found to identify OC, especially the most common subtype, high-grade serous carcinoma (HGSC), at an earlier, curable stage. In patients with hereditary predispositions such as BRCA mutations, the rates of HGSC are significantly elevated, leading to the use of risk-reducing salpingo-oophorectomy as the key preventative intervention. Although surgery has been shown to prevent HGSC in high-risk women, the associated premature menopause has adverse long-term sequelae and mortality due to non-cancer causes...
November 28, 2023: Current Oncology
https://read.qxmd.com/read/38128091/the-new-surgical-robot-hugo%C3%A2-ras-for-total-hysterectomy-a-pilot-study
#7
JOURNAL ARTICLE
G Monterossi, L Pedone Anchora, R Oliva, A Fagotti, F Fanfani, B Costantini, A Naldini, D Giannarelli, G Scambia
BACKGROUND: With the rising popularity of robotic surgery, Hugo™ RAS is one of the newest surgical robotic platforms. Investigating the reliability of this tool is the first step toward validating its use in clinical practice; and presently there arelimited data available regarding this. The literature is constantly enriched with initial experiences, however no study has demonstrated the safety of this platform yet. OBJECTIVES: This study aimed to investigate its reliability during total hysterectomy...
December 2023: Facts, Views & Vision in ObGyn
https://read.qxmd.com/read/38067403/comparing-prognosis-for-brca1-brca2-and-non-brca-breast-cancer
#8
JOURNAL ARTICLE
Pedro Antunes Meireles, Sofia Fragoso, Teresa Duarte, Sidónia Santos, Catarina Bexiga, Priscila Nejo, Ana Luís, Beatriz Mira, Isália Miguel, Paula Rodrigues, Fátima Vaz
BACKGROUND: Germline pathogenic variants (PV) in BRCA1 and BRCA2 genes, which account for 20% of familial breast cancer (BC) cases, are highly penetrant and are associated with Hereditary Breast/Ovarian Cancer Syndrome. Previous studies, mostly including higher numbers of BRCA1 BC patients, yielded conflicting results regarding BRCA1/2 BC outcomes. In the Portuguese population, BRCA2 BC is diagnosed more frequently than BRCA1 BC. We aimed to compare clinicopathological characteristics and prognosis between BC patients with BRCA1 and BRCA2 mutations and a control group without germline PV ( BRCA-wt )...
December 3, 2023: Cancers
https://read.qxmd.com/read/37920853/pathogenic-germline-variants-in-patients-with-breast-cancer-conversations-across-generations-practices-and-patients-attitude
#9
JOURNAL ARTICLE
Hikmat Abdel-Razeq, Rawan Mustafa, Sarah Abdel-Razeq, Hala Abu-Fares, Sama Al Masri, Rana Damsees, Mariam El-Atrash, Shatha Elemian, Mais Alkyam, Khawlah Ammar, Rayan Bater, Marah Kderat, Abdulrahman Alhajahjeh
Background: Breast cancer susceptibility genes such as BRCA1 , BRCA2 , PALB2 , CHEK2 and many others are increasingly recognized among our patient population. In addition to their impact on treatment decisions of tested patients themselves, identifying at-risk family members offer opportunities for cancer preventive measures. Methods: This is an observational cross-sectional study of adult breast cancer patients with positive breast-cancer-susceptibility germline variants who received treatment at our institution...
2023: Frontiers in Genetics
https://read.qxmd.com/read/37887578/specialty-care-and-counselling-about-hereditary-cancer-risk-improves-adherence-to-cancer-screening-and-prevention-in-newfoundland-and-labrador-patients-with-brca1-2-pathogenic-variants-a-population-based-retrospective-cohort-study
#10
JOURNAL ARTICLE
Aimee Roebothan, Kerri N Smith, Melanie Seal, Holly Etchegary, Lesa Dawson
Pathogenic variants (PVs) in BRCA1 and BRCA2 increase the lifetime risks of breast and ovarian cancer. Guidelines recommend breast screening (magnetic resonance imaging (MRI) and mammogram) or risk-reducing mastectomy (RRM) and salpingo-oophorectomy (RRSO). We sought to (1) characterize the population of BRCA1/2 PV carriers in Newfoundland and Labrador (NL), (2) evaluate risk-reducing interventions, and (3) identify factors influencing screening and prevention adherence. We conducted a retrospective study from a population-based provincial cohort of BRCA1/2 PV carriers...
October 22, 2023: Current Oncology
https://read.qxmd.com/read/37792368/prophylactic-salpingo-oophorectomy-and-survival-after-brca1-2-breast-cancer-resection
#11
JOURNAL ARTICLE
Gabriele Martelli, Francesco Barretta, Claudio Vernieri, Secondo Folli, Giancarlo Pruneri, Silvia Segattini, Anna Trapani, Claudia Carolla, Gianbattista Spatti, Rosalba Miceli, Cristina Ferraris
IMPORTANCE: Few studies have investigated whether prophylactic salpingo-oophorectomy (PSO) for patients with previously resected breast cancer who carry pathogenic germline BRCA1 or BRCA2 variants is associated with a reduced risk of cancer-specific death. OBJECTIVE: To assess the association of PSO and prophylactic mastectomy (PM) with prognosis after quadrantectomy or mastectomy as primary treatment for patients with BRCA1 or BRCA2 breast cancer. DESIGN, SETTING, AND PARTICIPANTS: This retrospective cohort study was performed in a single-institution, tertiary referral center...
October 4, 2023: JAMA Surgery
https://read.qxmd.com/read/37704491/impact-of-non-brca-genes-in-the-indication-of-risk-reducing-surgery-in-hereditary-breast-and-ovarian-cancer-syndrome-hboc
#12
JOURNAL ARTICLE
Laura Fernández Madrigal, Maria Yeray Rodríguez Garcés, Francisco Javier Jiménez Ruiz
Hereditary breast and ovarian cancer syndrome (HBOC) is associated with other genes beyond BRCA. The performance of prophylactic bilateral mastectomy (PBM) and risk-reducing salpingo-oophorectomy (RRSO) are primary prevention measures that can be recommended depending on the type of pathogenic/likely pathogenic (P/LP) variant detected or family history. Descriptive, retrospective, and observational audit. Between the years 2015 to May 2023, a total of 288 families were studied by a multigene panel using NGS...
September 6, 2023: Current Problems in Cancer
https://read.qxmd.com/read/37601649/long-term-complete-response-with-third-line-parp-inhibitor-after-immunotherapy-in-a-patient-with-triple-negative-breast-cancer-a-case-report
#13
Roberta Caputo, Martina Pagliuca, Matilde Pensabene, Sara Parola, Michelino De Laurentiis
While standard treatment has shown efficacy in patients with breast cancer gene ( BRCA ) mutations, recurrence rates are high and additional effective therapies are needed. Olaparib, a poly adenosine diphosphate-ribose polymerase (PARP) inhibitor, approved for the treatment of metastatic germline BRCA1 / BRCA2 breast cancer (BC), has demonstrated evidence of a progression-free survival (PFS) benefit, good safety profile, and improved quality of life compared with standard chemotherapy. We here describe the case of a patient with BRCA1 mutated advanced BC and a long history of response to chemotherapy and immunotherapy who received systemic treatment with olaparib...
2023: Frontiers in Oncology
https://read.qxmd.com/read/37592269/hereditary-breast-and-ovarian-cancer-triggered-by-occult-fallopian-tube-cancer-a-case-report
#14
JOURNAL ARTICLE
Hikaru Murakami, Satoe Fujiwara, Ruri Nishie, Shoko Ueda, Shinichi Terada, Takashi Yamada, Masahide Ohmichi
BACKGROUND: At the time of benign gynecological surgery, a prophylactic salpingo-oophorectomy or salpingectomy is increasingly being performed concurrently to reduce the risk of future ovarian and fallopian tube cancer. We herein describe a case of hereditary breast and ovarian cancer syndrome in which a hysterectomy and bilateral adnexectomy were performed with a preoperative diagnosis of benign tumor. A detailed pathological examination revealed occult fallopian tube cancer, and additional staging surgery provided an accurate pathology diagnosis...
August 18, 2023: Journal of Medical Case Reports
https://read.qxmd.com/read/37573025/clinical-significance-of-risk-reducing-salpingo-oophorectomy-in-patients-with-brca1-2-mutation
#15
JOURNAL ARTICLE
Merve Tuna, Levent Özgen, Yakup Yalcin, Kemal Ozerkan
OBJECTIVE: Serous tubal intraepithelial carcinoma (STIC) is a precursor lesion which is located in the distal fallopian tube and causes high grade serous ovarian carcinoma (HGSOC). The incidence of STIC for women underwent risk reducing salpingo-oophorectomy for BRCA mutation varies from 0.6 to 7 % and its clinical outcomes are still unclear. The aim of this study was to demonstrate the incidence of STIC and HGSOC in BRCA1/2 mutation carriers after risk reducing salpingo-oophorectomy (RRSO) and the clinical outcomes of these patients...
August 10, 2023: Journal of Gynecology Obstetrics and Human Reproduction
https://read.qxmd.com/read/37568378/long-term-follow-up-of-sexual-function-and-steroid-levels-in-women-after-perimenopausal-hysterectomy-with-or-without-concomitant-oophorectomy
#16
JOURNAL ARTICLE
Jonas Zimmerman, Mats Brännström, Cornelia Bergdahl, Adel Aziz, Jonas Hermansson
Hysterectomy, most often performed because of bleeding disorders or uterine leiomyoma, is one of the most common major surgical procedures in women and is usually performed during the perimenopausal period on ages 45-55 years. Hysterectomy may be combined with bilateral salpingo-oophorectomy, as a risk-reducing procedure to minimize the risk of ovarian cancer. An open question is whether concomitant oophorectomy, with cessation of ovarian androgen secretion, has any long-term effects on sexual function. In the present prospective cohort study of women undergoing benign hysterectomy, the long-term (10-12 years) effects on sexual function and changes in sex hormone levels were investigated in women having undergone perimenopausal hysterectomy, with or without concomitant bilateral salpingo-oophorectomy...
July 28, 2023: Journal of Clinical Medicine
https://read.qxmd.com/read/37365514/decision-analytic-evaluation-of-the-comparative-effectiveness-and-cost-effectiveness-of-strategies-to-prevent-breast-and-ovarian-cancer-in-german-women-with-brca-1-2-mutations
#17
JOURNAL ARTICLE
Lára R Hallsson, Gaby Sroczynski, Jutta Engel, Uwe Siebert
BACKGROUND: Women with inherited mutations in the BRCA1 or BRCA2 genes have increased lifetime risks for developing breast and/or ovarian cancer and may develop these cancers around the age of 30 years. Therefore, prevention of breast and ovarian cancer in these women may need to start relatively early in life. In this study we systematically evaluate the long-term effectiveness and cost effectiveness of different prevention strategies for breast and ovarian cancer in women with BRCA-1/2 mutation in Germany...
June 26, 2023: BMC Cancer
https://read.qxmd.com/read/37334322/sertoli-leydig-cell-tumor-associated-with-a-germline-dicer1-pathogenic-variant-diagnosed-during-pregnancy-considerations-for-treatment-surveillance-and-prevention
#18
Joyce Y Wang, Kimberly K Ma, Daniel J Reiter, Ana Torvie, Elizabeth M Swisher
•This is the first report of a germline DICER1 -associated Sertoli-Leydig cell tumor (SLCT) diagnosed in pregnancy.•SLCT is linked to DICER1 pathogenic variants, but little is known about management of DICER1 -associated SLCT.•There is an extended risk for metachronous SLCT in patients with germline DICER1 pathogenic variants who retain an ovary.•Prophylactic contralateral salpingo-oophorectomy may be offered with shared decision making to patients with inherited SLCT.•Genetic testing for DICER1 should be offered to all patients with moderately or poorly differentiated SLCT...
August 2023: Gynecologic Oncology Reports
https://read.qxmd.com/read/37308046/adherence-to-risk-reducing-salpingo-oophorectomy-guidelines-among-gynecologic-oncologists-compared-to-general-gynecologists
#19
JOURNAL ARTICLE
Pegah Blustein, Sarah R Werner, Pooja Uppalapati, Tung Ming Leung, Gregg A Husk, Elena B Pereira, Jill S Whyte, Jeannine A Villella
BACKGROUND: Risk-reducing bilateral salpingo-oophorectomy reduces mortality from high-grade serous carcinoma in patients with hereditary breast and ovarian cancer associated gene mutations. Ideal surgical management includes 5 steps outlined in 2005 by the Society of Gynecologic Oncology and the American College of Obstetricians and Gynecologists. In addition, it is recommended that pathologic examination include serial sectioning of specimens. In practice, risk-reducing salpingo-oophorectomy is performed by both gynecologic oncologists and general gynecologists...
September 2023: American Journal of Obstetrics and Gynecology
https://read.qxmd.com/read/37192837/barriers-to-hormone-therapy-following-prophylactic-bilateral-salpingo-oophorectomy-in-brca1-2-mutation-carriers
#20
JOURNAL ARTICLE
Jessica B DiSilvestro, Jessica Haddad, Katina Robison, Lindsey Beffa, Jessica Laprise, Jennifer Scalia-Wilbur, Christina Raker, Melissa Clark, Elizabeth Lokich, Erin Hofstatter, Disha Dalela, Amy Brown, Leslie Bradford, Maris Toland, Ashley Stuckey
OBJECTIVE: This study aimed to identify barriers to hormone therapy (HT) use among women with BRCA1/2 mutations after prophylactic bilateral salpingo-oophorectomy (BSO). METHODS: A cross-sectional, electronic survey was conducted of BRCA1/2 mutation carriers at Women and Infants Hospital, Yale Medical Center, Hartford Healthcare, and Maine Medical Center. This study was a subanalysis of a subset of female BRCA1/2 mutation carriers who had undergone a prophylactic BSO...
May 16, 2023: Menopause: the Journal of the North American Menopause Society
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