BRCA1 Gene Mutations in Women With Papillary Serous Carcinoma of the Peritoneum

Bandera, Christina A.; Muto, Michael G.; Schorge, John O.; Berkowitz, Ross S.; Rubin, Stephen C.; Mok, Samuel C.

doi:10.1097/00006250-199810000-00021

Cited by 23 publications

(27 citation statements)

References 13 publications

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Section: Discussionmentioning

confidence: 99%

“…Recent reports have concluded that the study of BRCA1 mutations would benefit molecular pathogenic research on PSPC (26,27) and that PSPC should be considered a malignancy expressed in the familial breast ovarian cancer syndrome (28). Bandera et al reported three out of 17 PSPC with germline mutations of the BRCA1 (26). Two cases showed 185 delAG germline mutations of the BRCA1, which is one of the three mutational hotspots in the Ashkenazi Jewish population, and the patients have a strong family history or a history of multiple breast/ovarian cancer.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

BRCA1 Mutations in Taiwanese with Epithelial Ovarian Carcinoma and Sporadic Primary Serous Peritoneal Carcinoma

Wang

Shyong²,

Li³

et al. 2000

Japanese Journal of Clinical Oncology

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

BRCA1 Mutations in Taiwanese with Epithelial Ovarian Carcinoma and Sporadic Primary Serous Peritoneal Carcinoma

Wang

Shyong²,

Li³

et al. 2000

Japanese Journal of Clinical Oncology

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“…In carriers of BRCA1 and BRCA2 muta ons, cancers other than breast and ovarian tumours may develop -e.g. peritoneal cancer [508]; pancrea c cancer [509]; prostate cancer in males [510,511] and glioblastoma [512]. The la er is not that surprising, as BRCA-1 is expressed by neural stem cells [513].…”

Section: Xeroderma Pigmentosummentioning

confidence: 99%

DNA repair systems

Chakarov¹,

Petkova²,

Russev³

2014

Biodiscovery

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This paper provides detailed insight into the mechanisms of repair of different types of DNA damage and the direct molecular players (enzymes repairing the damage or tagging the damaged site for further processing; damage sensor molecules; other signalling and effector molecules). The gene c bases of diseases and condi ons associated with defec ve DNA repair are comprehensively reviewed, from the 'classic' severe diseases such as xeroderma pigmentosum and Cockayne syndrome to the much more subtle UV sensi vity syndromes. The review analyses the basic molecular mechanisms underlying the rela vely rare monogenic diseases of DNA repair and management of genome integrity as well as the common mul factorial diseases and condi ons with late onset that are associated with increased levels of oxida ve stress (metabolic syndrome, diabetes type 2, cardiovascular disease) and with accumula on of 'errors' in DNA (normal and pathological ageing phenotypes, various cancers). The role of cell cycle checkpoints in dividing cells and the mechanisms of decision-making for the fate of a damaged cell are discussed with regards to the cell homeostasis in normal and cancerous ssues. The role of major DNA damageassociated signalling and effector molecules (p53, ATM, poly-(ADP-ribose)-polymerase, DNA-dependent protein kinase, BRCA proteins, re noblastoma protein, and others) is discussed and illustrated with examples in the context of health and disease. DNA repair and programmed cell death are viewed together as a unified mechanism for limi ng the presence of damaged cells and cells with poten ally oncogenic transforma on in mul cellular organisms. Special a en on is paid to ageing as a natural phenomenon and an adap ve evolu onary mechanism, with a brief outline of 'successful ageing'. The differen al rates of repair of DNA in transcribed and nontranscribed regions of the genome and the specifici es of DNA repair profile in some types of cells (terminally differen ated cells, pluripotent stem cells, etc.) and in certain taxonomic groups (e.g. 'the rodent repairadox') are discussed with regards to replica ve ageing and the evolu onary processes on microand macroscale. The role of mutagenesis as a 'hit and miss' mechanism and the 'leakiness' of DNA repair for increasing gene c diversity in the course of individual life and on evolu onary scale and the phenomenology of ongoing molecular evolu on are extensively reviewed. Conflict of Interests:No poten al conflict of interest was disclosed by any of the authors. Types of DNA repair systemsIf you wish for peace, prepare for war.Publius Flavius Vege us Renatus, De Re Militari (circa 380 AD).DNA damage is a very broad term, encompassing many different types of lesions in DNA.Accordingly, DNA repair comprises many different types of pathways and mechanisms covering virtually every possible type of injury to the sequence or the structure of DNA.Accep ng Lewin's defini on of DNA damage "... any change that introduces a devia on from the usual double-helical structure" [1] , we may pre...

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“…The high frequency of Ashkenazi founder mutations of BRCA1 and BRCA2 in women with fallopian tube and peritoneal carcinomas was confirmed in a recent New York study which reported that 5 of 29 patients (17%) with fallopian tube cancer and 9 of 22 patients (41%) with primary peritoneal carcinoma carried one or more of these mutations [13]. Of 17 consecutive patients with papillary serous carcinoma of the peritoneum in Boston, tested for BRCA1 mutations by Bandera et al, 2, both with personal or family histories of breast and/or ovarian cancer, were found to carry the 185delAG mutation; a third patient with no personal or family history of breast or ovarian cancer carried a novel BRCA1 mutation [154]. In a screening study at the Gilda Radner Ovarian Cancer Detection Program in southern California, Karlan et al tested for BRCA1 mutations in three Jewish women of Russian-Polish ancestry with peritoneal carcinoma, and all three women carried germ-line 185delAG mutations [116].…”

Section: Genetic Susceptibilitymentioning

confidence: 99%

Peritoneal carcinoma in women with genetic susceptibility: implications for Jewish populations

Casey

Bewtra

2004

Familial Cancer

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Women from families with multiple cases of breast and ovarian cancer, specifically those who carry cancer-associated mutations of BRCA1 or BRCA2 are at increased life-time risk for peritoneal carcinoma, even after previous surgery to remove the ovaries, fallopian tubes and uterus. Hereditary breast-ovarian cancer (HBOC) syndrome and the associated BRCA1 and BRCA2 mutations are particularly prevalent in women of Jewish lineage, and specific BRCA1 and BRCA2 germline mutations have been linked with peritoneal carcinoma and HBOC syndrome in Jewish populations, especially those of Ashkenazi descent. This review presents the currently available data and looks forward toward further and better understanding of peritoneal carcinoma in women with inherited susceptibility. Over 90% of peritoneal cancer in patients from HBOC syndrome kindreds and associated with BRCA1 and BRCA2 mutations are serous carcinomas, which is equivalent with the proportion of ovarian cancers that are serous carcinomas in similar patients. The best indications are that while many peritoneal carcinomas in genetically susceptible women may arise directly from malignant transformation of the peritoneum, others might represent metastases from primary ovarian or fallopian tube carcinomas. Although the incidence of borderline ovarian tumors may not be increased in HBOC syndrome kindreds and those who carry cancer-associated BRCA1 and BRCA2 mutations, these individuals could be susceptible to malignant transformation of borderline lesions of the ovaries and peritoneum. Moreover, recent reports raise the question of possibly increased risk in Jewish carriers of germline BRCA1 mutations for uterine papillary serous carcinoma, which could be the source of metastasis to the peritoneum in some cases. The penetrance of cancer-associated BRCA1 mutations for ovarian cancer is estimated to be 11%-54%, and for BRCA2 mutations the penetrance for ovarian cancer is 11%-23%. So far, available screening methods appear to be insufficient for early detection of many ovarian cancers. Prophylactic oophorectomy has been found to reduce the risk for ovarian cancer in women from HBOC kindreds and those who carry cancer-associated BRCA1 and BRCA2 mutations, leaving a residual risk for peritoneal carcinomatosis of well less than 5%. Therefore, surgical removal of the ovaries, fallopian tubes and uterus, after child-bearing has been completed and by early in the fifth decade of life, are appropriate prophylactic procedures in women whose genetic susceptibility puts them at increased risk for cancers of mullerian tract origin, including ovarian and fallopian tube carcinomas and possibly serous carcinoma of the uterus. Hysterectomy, as well as salpingo-oophorectomy, removes the gynecologic organs targeted for malignant transformation in genetically susceptible women and simplifies decisions regarding hormone replacement therapy and chemical prophylaxis and treatment of breast cancer. Unless a transabdominal operative approach is otherwise indicated, laparoscopic-assisted transvagin...

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BRCA1 Gene Mutations in Women With Papillary Serous Carcinoma of the Peritoneum

Cited by 23 publications

References 13 publications

BRCA1 Mutations in Taiwanese with Epithelial Ovarian Carcinoma and Sporadic Primary Serous Peritoneal Carcinoma

BRCA1 Mutations in Taiwanese with Epithelial Ovarian Carcinoma and Sporadic Primary Serous Peritoneal Carcinoma

DNA repair systems

Peritoneal carcinoma in women with genetic susceptibility: implications for Jewish populations

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