Hereditary cancer predisposition syndromes

JE Garber, K Offit - Journal of clinical oncology, 2005 - ascopubs.org
Cancer genetics is increasingly becoming integrated into the practice of modern medical
oncology. The ability to distinguish a growing proportion of the 5% to 10% of all cancers that …

BRCA1 and BRCA2 and the genetics of breast and ovarian cancer

PL Welcsh, MC King - Human molecular genetics, 2001 - academic.oup.com
Germline mutations in the tumor suppressor genes BRCA1 and BRCA2 predispose
individuals to breast and ovarian cancers. Progress in determining the function of BRCA1 …

Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer

S Zhang, R Royer, S Li, JR McLaughlin, B Rosen… - Gynecologic …, 2011 - Elsevier
BACKGROUND: The heritable fraction of ovarian cancer exceeds that of any other common
adult cancer. Most inherited cases of ovarian cancer are due to a germline mutation in …

BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases

T Pal, J Permuth‐Wey, JA Betts… - … Journal of the …, 2005 - Wiley Online Library
BACKGROUND It is believed that BRCA1 and BRCA2 germline mutations account for the
majority of hereditary ovarian carcinomas; however, to the authors' knowledge, there are …

Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin–cohort study in Ontario, Canada

HA Risch, JR McLaughlin, DEC Cole… - Journal of the …, 2006 - academic.oup.com
Background: BRCA1 and BRCA2 mutations in general populations and in various types of
cancers have not been well characterized. We investigated the presence of these mutations …

Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer

HA Risch, JR McLaughlin, DEC Cole, B Rosen… - The American Journal of …, 2001 - cell.com
A population-based series of 649 unselected incident cases of ovarian cancer diagnosed in
Ontario, Canada, during 1995–96 was screened for germline mutations in BRCA1 and …

Clinical Characteristics of Individuals With Germline Mutations in BRCA1 and BRCA2: Analysis of 10,000 Individuals

TS Frank, AM Deffenbaugh, JE Reid… - Journal of Clinical …, 2002 - ascopubs.org
PURPOSE: To assess the characteristics that correlate best with the presence of mutations
in BRCA1 and BRCA2 in individuals tested in a clinical setting. PATIENTS AND METHODS …

Efficacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 gene mutation carriers

LC Hartmann, TA Sellers, DJ Schaid… - Journal of the …, 2001 - academic.oup.com
Background: In women with a family history of breast cancer, bilateral prophylactic
mastectomy is associated with a decreased risk of subsequent breast cancer of …

Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer

T Walsh, S Casadei, KH Coats, E Swisher, SM Stray… - Jama, 2006 - jamanetwork.com
ContextGenetic testing for inherited mutations in BRCA1 and BRCA2 has become integral to
the care of women with a severe family history of breast or ovarian cancer, but an unknown …

Risk-reducing salpingo-oophorectomy for the prevention of BRCA1-and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study

ND Kauff, SM Domchek, TM Friebel… - Journal of clinical …, 2008 - ascopubs.org
Purpose Risk-reducing salpingo-oophorectomy (RRSO) has been widely adopted as a key
component of breast and gynecologic cancer risk-reduction for women with BRCA1 and …